Breast cancer (BC) is an aggressive tumor. Circulating tumor cells (CTCs) are a potential biomarker for the prognosis of cancer patients. This study aimed to explore the prognostic significance of CTCs in patients with BC.
Methods
Retrospectively, 108 BC patients were collected between January 2011 and December 2019, while 10 patients with benign nodules were included as controls. CTCs with different phenotypes of patients were isolated using CanPatrol and tricolor RNA in situ hybridization (RNA-ISH) methods. Estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor-2 (HER-2) levels were measured by immunohistochemistry (IHC). The progression-free survival (PFS) was calculated using the Kaplan–Meier method. Independent risk factors for BC recurrence were determined by Cox proportional risk regression analysis.
Results
The higher the cancer stage (p = 0.00), the higher the ki-67 expression level (p < 0.01), and the lower the histologic grade (p < 0.01), the higher the number of CTCs. The PFS of patients with high CTCs was shorter than that of patients with low CTCs (p < 0.05). Total CTCs (≥ 6) and positive mesenchymal CTCs (MCTCs) were also associated with recurrence and metastasis.
Conclusions
Total CTCs in BC patients have an independent influence on PFS reduction. Higher total CTCs and MCTCs in peripheral blood are biomarkers for predicting the prognosis of BC patients. HER-2 high expression is also associated with the prognosis of the disease.
{"title":"Detection of Circulating Tumor Cells in the Prognostic Significance of Patients With Breast Cancer: A Retrospective Study","authors":"Wanwen Xu, Feng Yuan","doi":"10.1002/jcla.25126","DOIUrl":"10.1002/jcla.25126","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Breast cancer (BC) is an aggressive tumor. Circulating tumor cells (CTCs) are a potential biomarker for the prognosis of cancer patients. This study aimed to explore the prognostic significance of CTCs in patients with BC.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Retrospectively, 108 BC patients were collected between January 2011 and December 2019, while 10 patients with benign nodules were included as controls. CTCs with different phenotypes of patients were isolated using CanPatrol and tricolor RNA in situ hybridization (RNA-ISH) methods. Estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor-2 (HER-2) levels were measured by immunohistochemistry (IHC). The progression-free survival (PFS) was calculated using the Kaplan–Meier method. Independent risk factors for BC recurrence were determined by Cox proportional risk regression analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The higher the cancer stage (<i>p</i> = 0.00), the higher the ki-67 expression level (<i>p</i> < 0.01), and the lower the histologic grade (<i>p</i> < 0.01), the higher the number of CTCs. The PFS of patients with high CTCs was shorter than that of patients with low CTCs (<i>p</i> < 0.05). Total CTCs (≥ 6) and positive mesenchymal CTCs (MCTCs) were also associated with recurrence and metastasis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Total CTCs in BC patients have an independent influence on PFS reduction. Higher total CTCs and MCTCs in peripheral blood are biomarkers for predicting the prognosis of BC patients. HER-2 high expression is also associated with the prognosis of the disease.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"39 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11737110/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142846883","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Thalassemia, a genetic blood disorder, poses significant global health challenges, emphasizing the importance of accurate screening methods. Traditional diagnostic tools, such as osmotic fragility and dichlorophenolindophenol tests, along with blood indices, such as mean corpuscular volume and mean corpuscular hemoglobin, have limitations. Digital microscopy of peripheral blood smears is a promising alternative for objective quantification and standardization.
Methods
Blood samples from 81 thalassemia screening-negative and 41 screening-positive individuals were analyzed using Mindray MC-80 Digital Morphology.
Results
Pre-classification of red blood cell (RBC) morphology using Mindray MC-80 revealed significant differences between the screening-positive and screening-negative groups. Various RBC morphologies demonstrated statistically significant variance, including hypochromic cells, schistocytes, elliptocytes, target cells, teardrop cells (p < 0.001), and ovalocytes (p = 0.002). However, the area under the receiver operating characteristic curve of these parameters was < 0.8, indicating a limited discriminatory power.
Conclusion
RBC morphology showed promise in detecting subtle changes associated with thalassemia. However, it may not be sufficient for accurate screening alone, highlighting the need for complementary diagnostic approaches.
{"title":"Digital Imaging of Peripheral Blood Smear With MC-80 as a Screening Tool for Thalassemia","authors":"Peempol Chokchaipermpoonphol, Satana Lamtanthong, Sathaporn Nokkaew","doi":"10.1002/jcla.25135","DOIUrl":"10.1002/jcla.25135","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Thalassemia, a genetic blood disorder, poses significant global health challenges, emphasizing the importance of accurate screening methods. Traditional diagnostic tools, such as osmotic fragility and dichlorophenolindophenol tests, along with blood indices, such as mean corpuscular volume and mean corpuscular hemoglobin, have limitations. Digital microscopy of peripheral blood smears is a promising alternative for objective quantification and standardization.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Blood samples from 81 thalassemia screening-negative and 41 screening-positive individuals were analyzed using Mindray MC-80 Digital Morphology.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Pre-classification of red blood cell (RBC) morphology using Mindray MC-80 revealed significant differences between the screening-positive and screening-negative groups. Various RBC morphologies demonstrated statistically significant variance, including hypochromic cells, schistocytes, elliptocytes, target cells, teardrop cells (<i>p</i> < 0.001), and ovalocytes (<i>p</i> = 0.002). However, the area under the receiver operating characteristic curve of these parameters was < 0.8, indicating a limited discriminatory power.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>RBC morphology showed promise in detecting subtle changes associated with thalassemia. However, it may not be sufficient for accurate screening alone, highlighting the need for complementary diagnostic approaches.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"39 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11737123/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142828876","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Meiying Cai, Na Lin, Nan Guo, Hailong Huang, Xiangqun Fan, Meimei Fu, Min Zhang, Liangpu Xu
Background
The short arm of chromosome 16 is highly susceptible to homologous recombination through nonallelic genes. This results in microdeletions/microduplications that can lead to neurodevelopmental disorders. However, incomplete penetrance and phenotypic diversity after birth exacerbate the uncertainty in prenatal genetic counseling.
Methods
A total of 24,000 cases with prenatal diagnoses were retrospectively analyzed. Chromosome microarray analysis (CMA) was performed on 17,000 cases, of which 81 (0.48%) had chromosome 16 short-arm microdeletions/microduplications.
Results
Of the 81 fetuses with chromosome 16 short-arm microdeletions/microduplications, 36 and 28 had 16p11.2 and 16p13.11 microdeletions/microduplications, respectively. Ten, four, and three fetuses had 16p12.2, 16p13.12p13.11, and 16p13.12p1.3 microdeletions, respectively. Among the 36 fetuses with 16p11.2 microdeletions/microduplications, 33 had abnormal intrauterine ultrasound phenotypes, the most common being skeletal system abnormalities. Among the 28 fetuses with 16p13.11 microdeletions/microduplications, 19 had abnormal intrauterine ultrasound phenotypes, including 15 with abnormal ultrasonic soft markers. Among the 10 fetuses with the 16p12.2 microdeletions, six had abnormal ultrasound findings, and four had skeletal system abnormalities. After genetic counseling, 44 patients were selected and tested for family verification, of which 22 were de novo, while 22 were inherited from phenotypically normal parents. Among the 47 live births, 39 had no abnormalities.
Conclusion
All fetuses with the 16p13.11 microdeletions/microduplications, and 16p12.2, 16p13.12p13.11, and 16p13.12p1.3 microdeletions were healthy after birth. Hence, chromosome 16 short-arm microdeletions/microduplications should not be the sole basis for abandoning pregnancy, and clinicians should consider prenatal diagnostic data to maximize diagnostic accuracy.
{"title":"Molecular Genetic and Clinical Characteristics of Fetuses With Chromosome 16 Short-Arm Microdeletions/Microduplications","authors":"Meiying Cai, Na Lin, Nan Guo, Hailong Huang, Xiangqun Fan, Meimei Fu, Min Zhang, Liangpu Xu","doi":"10.1002/jcla.25132","DOIUrl":"10.1002/jcla.25132","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The short arm of chromosome 16 is highly susceptible to homologous recombination through nonallelic genes. This results in microdeletions/microduplications that can lead to neurodevelopmental disorders. However, incomplete penetrance and phenotypic diversity after birth exacerbate the uncertainty in prenatal genetic counseling.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A total of 24,000 cases with prenatal diagnoses were retrospectively analyzed. Chromosome microarray analysis (CMA) was performed on 17,000 cases, of which 81 (0.48%) had chromosome 16 short-arm microdeletions/microduplications.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of the 81 fetuses with chromosome 16 short-arm microdeletions/microduplications, 36 and 28 had 16p11.2 and 16p13.11 microdeletions/microduplications, respectively. Ten, four, and three fetuses had 16p12.2, 16p13.12p13.11, and 16p13.12p1.3 microdeletions, respectively. Among the 36 fetuses with 16p11.2 microdeletions/microduplications, 33 had abnormal intrauterine ultrasound phenotypes, the most common being skeletal system abnormalities. Among the 28 fetuses with 16p13.11 microdeletions/microduplications, 19 had abnormal intrauterine ultrasound phenotypes, including 15 with abnormal ultrasonic soft markers. Among the 10 fetuses with the 16p12.2 microdeletions, six had abnormal ultrasound findings, and four had skeletal system abnormalities. After genetic counseling, 44 patients were selected and tested for family verification, of which 22 were de novo, while 22 were inherited from phenotypically normal parents. Among the 47 live births, 39 had no abnormalities.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>All fetuses with the 16p13.11 microdeletions/microduplications, and 16p12.2, 16p13.12p13.11, and 16p13.12p1.3 microdeletions were healthy after birth. Hence, chromosome 16 short-arm microdeletions/microduplications should not be the sole basis for abandoning pregnancy, and clinicians should consider prenatal diagnostic data to maximize diagnostic accuracy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 24","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.25132","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813111","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Chen Qian, Chaoyu Huang, Qinghui Luo, Kaili Qin, Yangyang Wu, Lin Liao, Qian Zhang, Liqun Xiang, Jie Yan
Background
Congenital hypofibrinogenemia, a quantitative fibrinogen disorder, is characterized by abnormally low levels of both functional and antigen fibrinogen. We identified a heterozygous nonsense mutation, p.Arg17Stop, in the fibrinogen Bβ chain of a three-month-old female infant.
Methods
Coagulation testing, gene analysis, in vitro plasmid construction, and functional analyses were conducted to investigate the underlying pathogenic mechanisms.
Results
Plasma fibrinogen levels showed decrease in the proband. DNA sequencing of the proband revealed a heterozygous point mutation (c.139C>T) in exon 2 of the FGB gene causing Arg → Stop substitution. Human Arg17 was found to be highly conserved. In vitro expression analyses indicated that the mutation impacts both the transcription and translation of the FGB gene, subsequently affecting the synthesis and secretion of fibrinogen.
Conclusions
The p.Arg17Stop mutation in the fibrinogen Bβ chain disrupts fibrinogen production and secretion, contributing to hypofibrinogenemia.
{"title":"The β-Chain Mutation p.Arg17Stop Impairs Fibrinogen Synthesis and Secretion: A Nonsense Mutation Associated With Hypofibrinogenemia","authors":"Chen Qian, Chaoyu Huang, Qinghui Luo, Kaili Qin, Yangyang Wu, Lin Liao, Qian Zhang, Liqun Xiang, Jie Yan","doi":"10.1002/jcla.25123","DOIUrl":"10.1002/jcla.25123","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Congenital hypofibrinogenemia, a quantitative fibrinogen disorder, is characterized by abnormally low levels of both functional and antigen fibrinogen. We identified a heterozygous nonsense mutation, p.Arg17Stop, in the fibrinogen Bβ chain of a three-month-old female infant.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Coagulation testing, gene analysis, in vitro plasmid construction, and functional analyses were conducted to investigate the underlying pathogenic mechanisms.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Plasma fibrinogen levels showed decrease in the proband. DNA sequencing of the proband revealed a heterozygous point mutation (c.139C>T) in exon 2 of the FGB gene causing Arg → Stop substitution. Human Arg17 was found to be highly conserved. In vitro expression analyses indicated that the mutation impacts both the transcription and translation of the FGB gene, subsequently affecting the synthesis and secretion of fibrinogen.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The p.Arg17Stop mutation in the fibrinogen Bβ chain disrupts fibrinogen production and secretion, contributing to hypofibrinogenemia.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 24","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.25123","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813129","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Hafsa Aziz, Humera Mehmood, Sarosh Arif, Khadija Afzal, Saba Hanif, Muhammad Adnan Saeed, Mohammad Faheem
Background
HPV plays a key role in the development of cervical cancer. This study aims to investigate the prevalence of HPV genotypes in patients with Squamous cell carcinoma (SSC) and Adenocarcinoma (ADC) at NORI cancer Hospital Pakistan, with the aim of improving screening and prevention strategies.
Method
Cervical scrapings were collected from 129 diagnosed cervical cancer patients. HPV typing was performed using a real-time PCR assay and sequencing.
Result
Among the patients, 73.6% (90/129) were HPV positive. Proportion of HPV positivity was observed within each group. The highest incidence of HPV was observed in the 50–60 years age group (80.9%), followed by the 40-to-50-year group (75.8%). The positivity rate declined in the 60-to-70-year-old (63.6%) and further in the 70–80 years (62.5%). Eight different HPV subtypes were identified, with HPV 16 being the most prevalent (80.0%), followed by HPV 18 (9.5%), HPV 45 in 2 (2.1%), HPV 31 in 1 (1.1%), HPV 35 in 1 (1.1%), HPV 59 in 1 (1.1%), HPV 66 in 1 (1.1%), and HPV 89 in 1 (1.15). Histologically, 89.2% of the cases were Squamous cell carcinoma (SCC) and 10.8% were Adenocarcinomas. In SCC patients, HPV 16 was found in 80.9% of cases, while in Adenocarcinoma patients, HPV 16 was detected in 66.7% of cases.
Conclusion
The prevalence of high-risk HPV types, both vaccine and non-vaccine, targeted in Pakistan highlights the urgent need for widespread screening and vaccination programs. Tailored public health strategies are essential to effectively reduce cervical cancer rates and mortality.
{"title":"Distribution of HPV Types in Cervical Cancer in Pakistan: Implications for Screening and Vaccination Programs","authors":"Hafsa Aziz, Humera Mehmood, Sarosh Arif, Khadija Afzal, Saba Hanif, Muhammad Adnan Saeed, Mohammad Faheem","doi":"10.1002/jcla.25130","DOIUrl":"10.1002/jcla.25130","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>HPV plays a key role in the development of cervical cancer. This study aims to investigate the prevalence of HPV genotypes in patients with Squamous cell carcinoma (SSC) and Adenocarcinoma (ADC) at NORI cancer Hospital Pakistan, with the aim of improving screening and prevention strategies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>Cervical scrapings were collected from 129 diagnosed cervical cancer patients. HPV typing was performed using a real-time PCR assay and sequencing.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Result</h3>\u0000 \u0000 <p>Among the patients, 73.6% (90/129) were HPV positive. Proportion of HPV positivity was observed within each group. The highest incidence of HPV was observed in the 50–60 years age group (80.9%), followed by the 40-to-50-year group (75.8%). The positivity rate declined in the 60-to-70-year-old (63.6%) and further in the 70–80 years (62.5%). Eight different HPV subtypes were identified, with HPV 16 being the most prevalent (80.0%), followed by HPV 18 (9.5%), HPV 45 in 2 (2.1%), HPV 31 in 1 (1.1%), HPV 35 in 1 (1.1%), HPV 59 in 1 (1.1%), HPV 66 in 1 (1.1%), and HPV 89 in 1 (1.15). Histologically, 89.2% of the cases were Squamous cell carcinoma (SCC) and 10.8% were Adenocarcinomas. In SCC patients, HPV 16 was found in 80.9% of cases, while in Adenocarcinoma patients, HPV 16 was detected in 66.7% of cases.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The prevalence of high-risk HPV types, both vaccine and non-vaccine, targeted in Pakistan highlights the urgent need for widespread screening and vaccination programs. Tailored public health strategies are essential to effectively reduce cervical cancer rates and mortality.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"39 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11737109/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142785764","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
<p>We read with interest the laboratory analysis and meta-analysis performed by Ahmad et al. [<span>1</span>]. Using a review of the published literature, the study included controlled/randomized clinical trials (RCTs), retrospective or prospective cohorts, and case-controlled studies with five or more patients. These studies separated stroke groups from stroke mimic/control groups and reported D-Dimer values within the 24 h. The analysis revealed a positive effect size for D-Dimer in the stroke group.</p><p>However, we would like to highlight several methodological concerns presented in this paper. First, the estimates of variance among studies may lack precision, especially when a small number of studies are included in the meta-analysis. This uncertainty was overlooked when applying a conventional normal approximation for random-effects models, potentially impacting the accuracy of the inferences drawn. The issue of imprecise variances estimates becomes critical when the sample size of included studies is small. Neglecting this uncertainty when integrating the random effects can have detrimental consequences for statistical inferences. To address this concern, the Hartung and Knapp (HK)-adjusted method should be used to estimate random effects and their confidence intervals (CIs), rather than relying on the standard approach [<span>2, 3</span>]. A previous meta-analysis compared D-Dimer levels (ng/ml) between stroke groups and stroke mimics/controls within 6 hours, reporting a standard mean difference (SMD) of 0.49; 95% confidence interval (CI) = [0.29, 0.69]; and <i>p</i> < 0.00001 [<span>1</span>]. We reanalyzed the data using random effects models with the HK adjustment. The updated results showed SMD = 0.49; 95% CI = [0.03, 0.95]; and <i>p</i> = 0.045 (Figure 1). After the HK adjustment, the <i>p</i> value of the overall effect approached the borderline for statistical significance (<i>p</i> = 0.05) for D-Dimer levels in the stroke group compared with the control group. Caution is advised regarding potential small-study bias when performing meta-analyses. It is important to note that the 95% CI for the random effect became wider after the HK adjustment, likely due to a decrease in statistical power for the test [<span>4</span>].</p><p>From a clinical perspective, it is essential to recognize that correlation does not imply causation, particularly in nonexperimental studies [<span>5</span>]. When two events, A and B, are related, several possibilities exist: (1) A causes B; (2) B causes A; (3) both A and B have no causal relationship but are influenced by a third factor; or (4) the relationship is coincidental. Confirming true causal relationships between events is a significant challenge and requires empirical evidence to validate hypotheses. Data-driven analysis can deepen our understanding of disease mechanisms and offer evidence to address clinical challenges. With advanced data-driven architectures, it is possible to establish stron
{"title":"Assessing the Impact of D-Dimer on Stroke Diagnosis Within 24 h","authors":"I-Shiang Tzeng, Giou-Teng Yiang, Meng-Yu Wu, Mao-Liang Chen","doi":"10.1002/jcla.25133","DOIUrl":"10.1002/jcla.25133","url":null,"abstract":"<p>We read with interest the laboratory analysis and meta-analysis performed by Ahmad et al. [<span>1</span>]. Using a review of the published literature, the study included controlled/randomized clinical trials (RCTs), retrospective or prospective cohorts, and case-controlled studies with five or more patients. These studies separated stroke groups from stroke mimic/control groups and reported D-Dimer values within the 24 h. The analysis revealed a positive effect size for D-Dimer in the stroke group.</p><p>However, we would like to highlight several methodological concerns presented in this paper. First, the estimates of variance among studies may lack precision, especially when a small number of studies are included in the meta-analysis. This uncertainty was overlooked when applying a conventional normal approximation for random-effects models, potentially impacting the accuracy of the inferences drawn. The issue of imprecise variances estimates becomes critical when the sample size of included studies is small. Neglecting this uncertainty when integrating the random effects can have detrimental consequences for statistical inferences. To address this concern, the Hartung and Knapp (HK)-adjusted method should be used to estimate random effects and their confidence intervals (CIs), rather than relying on the standard approach [<span>2, 3</span>]. A previous meta-analysis compared D-Dimer levels (ng/ml) between stroke groups and stroke mimics/controls within 6 hours, reporting a standard mean difference (SMD) of 0.49; 95% confidence interval (CI) = [0.29, 0.69]; and <i>p</i> < 0.00001 [<span>1</span>]. We reanalyzed the data using random effects models with the HK adjustment. The updated results showed SMD = 0.49; 95% CI = [0.03, 0.95]; and <i>p</i> = 0.045 (Figure 1). After the HK adjustment, the <i>p</i> value of the overall effect approached the borderline for statistical significance (<i>p</i> = 0.05) for D-Dimer levels in the stroke group compared with the control group. Caution is advised regarding potential small-study bias when performing meta-analyses. It is important to note that the 95% CI for the random effect became wider after the HK adjustment, likely due to a decrease in statistical power for the test [<span>4</span>].</p><p>From a clinical perspective, it is essential to recognize that correlation does not imply causation, particularly in nonexperimental studies [<span>5</span>]. When two events, A and B, are related, several possibilities exist: (1) A causes B; (2) B causes A; (3) both A and B have no causal relationship but are influenced by a third factor; or (4) the relationship is coincidental. Confirming true causal relationships between events is a significant challenge and requires empirical evidence to validate hypotheses. Data-driven analysis can deepen our understanding of disease mechanisms and offer evidence to address clinical challenges. With advanced data-driven architectures, it is possible to establish stron","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 24","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.25133","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142785711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
It is still a major global challenge to reduce the high morbidity and mortality of acute ischemic stroke (AIS) and improve the prognosis of patients. This study aims to investigate the prognostic value of lipoprotein-associated phospholipase A2 (Lp-PLA2) combined with lipoprotein(a) (Lp(a)) for long-term stroke recurrence in patients with AIS.
Methods
This study included 580 patients with AIS. Assessment of Lp-PLA2 and Lp(a) levels was conducted upon patient admission. Continuous monitoring over the long term categorized stroke recurrence as an endpoint. Patients were categorized based on these identified thresholds to compare the risk of stroke recurrence: high Lp-PLA2 and high Lp(a), high Lp-PLA2 and low Lp(a), low Lp-PLA2 and high Lp(a), and low Lp-PLA2 combined with low Lp(a).
Results
Among the 580 participants, 101 individuals (17.41%) experienced stroke recurrence within the 2-year follow-up. The majority were male (61.39%), with a median age of 62 years (interquartile range: 55–69.5). Factors independently associated with heightened the risk of recurrence stroke comprised age (hazard ratio [HR], 1.025; p = 0.021), diabetes mellitus (HR, 1.751; p = 0.007), Lp-PLA2 (HR, 1.004; p < 0.001), and Lp(a) (HR, 1.002; p < 0.001). Noteworthy is that the combination of Lp-PLA2 and Lp(a) displayed superior predictive efficacy for long-term stroke recurrence risk in AIS patients compared to individual factors.
Conclusion
This investigation underscores the potential advantage of leveraging the combined impact of Lp-PLA2 in conjunction with Lp(a) as a more precise and cost-effective predictive tool for the risk of recurrence stroke in patients with AIS.
{"title":"Association of Lipoprotein-Associated Phospholipase A2 and Lipoprotein(a) With the Risk of Recurrence Stroke in Patients With Acute Ischemic Stroke","authors":"Yu Feng, Shenyang Zhang, Hailiang Li, Hao Li, Ruiguo Dong, Shiguang Zhu, Yanlong Zhou","doi":"10.1002/jcla.25120","DOIUrl":"10.1002/jcla.25120","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>It is still a major global challenge to reduce the high morbidity and mortality of acute ischemic stroke (AIS) and improve the prognosis of patients. This study aims to investigate the prognostic value of lipoprotein-associated phospholipase A2 (Lp-PLA2) combined with lipoprotein(a) (Lp(a)) for long-term stroke recurrence in patients with AIS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This study included 580 patients with AIS. Assessment of Lp-PLA2 and Lp(a) levels was conducted upon patient admission. Continuous monitoring over the long term categorized stroke recurrence as an endpoint. Patients were categorized based on these identified thresholds to compare the risk of stroke recurrence: high Lp-PLA2 and high Lp(a), high Lp-PLA2 and low Lp(a), low Lp-PLA2 and high Lp(a), and low Lp-PLA2 combined with low Lp(a).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among the 580 participants, 101 individuals (17.41%) experienced stroke recurrence within the 2-year follow-up. The majority were male (61.39%), with a median age of 62 years (interquartile range: 55–69.5). Factors independently associated with heightened the risk of recurrence stroke comprised age (hazard ratio [HR], 1.025; <i>p</i> = 0.021), diabetes mellitus (HR, 1.751; <i>p</i> = 0.007), Lp-PLA2 (HR, 1.004; <i>p</i> < 0.001), and Lp(a) (HR, 1.002; <i>p</i> < 0.001). Noteworthy is that the combination of Lp-PLA2 and Lp(a) displayed superior predictive efficacy for long-term stroke recurrence risk in AIS patients compared to individual factors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This investigation underscores the potential advantage of leveraging the combined impact of Lp-PLA2 in conjunction with Lp(a) as a more precise and cost-effective predictive tool for the risk of recurrence stroke in patients with AIS.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 24","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.25120","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142769443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Noura Mohammadnabi, Jebreil Shamseddin, Mobina Emadi, Ali Bayat Bodaghi, Mahdieh Varseh, Aref Shariati, Mina Rezaei, Mahsa Dastranj, Abbas Farahani
Background
The infection caused by Mycobacterium tuberculosis arises from a complex interplay between the host immune system and the bacteria. Early and effective treatment of this disease is of great importance in order to prevent the emergence of drug-resistant strains. This necessitates the availability of fast and reliable diagnostic methods for managing affected cases. One reason why this study is significant is the lack of a comprehensive review in this field that thoroughly examines the importance, pathogenesis, and diagnosis of M. tuberculosis. Therefore, the aim of this review is to provide updated information on M. tuberculosis.
Methods
We investigate the virulence factors, pathogenicity, and diagnostic methods of this bacterium, alongside the clinical symptoms and interpretation of different types of tuberculosis, including cerebral, miliary, nerve, and tubercular tuberculosis.
Results
Mycobacterium tuberculosis acts as the causative agent of human tuberculosis and is regarded as one of the most adaptable human pathogens. M. tuberculosis possesses several virulence factors that help the bacterium evade mucous barriers. The rise of multidrug-resistant tuberculosis (MDR-TB) in both developing and industrialized countries emphasizes the need for rapid diagnostic methods.
Conclusions
Non-protein virulence factors play a crucial role in the pathogenicity of Mycobacterium tuberculosis (M. tuberculosis). The bacterial cell membrane contains proteins that modulate the host immune response. For instance, ESAT-6, either alone or in combination with CFP-10, reduces immune activity. While molecular techniques—such as DNA microarray, luciferase reporter assay, polymerase chain reaction (PCR), DNA and RNA probes, next-generation sequencing, and whole-genome sequencing—offer rapid, sensitive, and specific detection of M. tuberculosis, these methods are expensive and require technical expertise.
背景：结核分枝杆菌引起的感染源于宿主免疫系统与细菌之间复杂的相互作用。为了防止出现耐药菌株，及早有效地治疗这种疾病非常重要。这就需要有快速可靠的诊断方法来管理受影响的病例。本研究之所以意义重大，原因之一是这一领域缺乏全面研究结核杆菌的重要性、发病机制和诊断的综述。因此，本综述旨在提供有关结核杆菌的最新信息：方法：我们研究了这种细菌的毒力因子、致病性和诊断方法，以及不同类型结核病（包括脑结核、粟粒性结核、神经性结核和结核性结核）的临床症状和解释：结核分枝杆菌是人类结核病的病原体，被认为是适应性最强的人类病原体之一。结核分枝杆菌具有多种毒力因子，有助于该细菌逃避粘膜屏障。耐多药结核病（MDR-TB）在发展中国家和工业化国家的增多强调了对快速诊断方法的需求：结论：非蛋白毒力因子在结核分枝杆菌（M. tuberculosis）的致病性中起着至关重要的作用。细菌细胞膜含有调节宿主免疫反应的蛋白质。例如，ESAT-6，无论是单独使用还是与 CFP-10 结合使用，都会降低免疫活性。虽然分子技术--如 DNA 微阵列、荧光素酶报告分析、聚合酶链反应（PCR）、DNA 和 RNA 探针、下一代测序和全基因组测序--提供了快速、灵敏和特异性的结核杆菌检测方法，但这些方法都很昂贵，而且需要专业技术知识。
{"title":"Mycobacterium tuberculosis: The Mechanism of Pathogenicity, Immune Responses, and Diagnostic Challenges","authors":"Noura Mohammadnabi, Jebreil Shamseddin, Mobina Emadi, Ali Bayat Bodaghi, Mahdieh Varseh, Aref Shariati, Mina Rezaei, Mahsa Dastranj, Abbas Farahani","doi":"10.1002/jcla.25122","DOIUrl":"10.1002/jcla.25122","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The infection caused by <i>Mycobacterium tuberculosis</i> arises from a complex interplay between the host immune system and the bacteria. Early and effective treatment of this disease is of great importance in order to prevent the emergence of drug-resistant strains. This necessitates the availability of fast and reliable diagnostic methods for managing affected cases. One reason why this study is significant is the lack of a comprehensive review in this field that thoroughly examines the importance, pathogenesis, and diagnosis of <i>M. tuberculosis</i>. Therefore, the aim of this review is to provide updated information on <i>M. tuberculosis</i>.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We investigate the virulence factors, pathogenicity, and diagnostic methods of this bacterium, alongside the clinical symptoms and interpretation of different types of tuberculosis, including cerebral, miliary, nerve, and tubercular tuberculosis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p><i>Mycobacterium tuberculosis</i> acts as the causative agent of human tuberculosis and is regarded as one of the most adaptable human pathogens. <i>M. tuberculosis</i> possesses several virulence factors that help the bacterium evade mucous barriers. The rise of multidrug-resistant tuberculosis (MDR-TB) in both developing and industrialized countries emphasizes the need for rapid diagnostic methods.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Non-protein virulence factors play a crucial role in the pathogenicity of Mycobacterium tuberculosis (<i>M. tuberculosis</i>). The bacterial cell membrane contains proteins that modulate the host immune response. For instance, ESAT-6, either alone or in combination with CFP-10, reduces immune activity. While molecular techniques—such as DNA microarray, luciferase reporter assay, polymerase chain reaction (PCR), DNA and RNA probes, next-generation sequencing, and whole-genome sequencing—offer rapid, sensitive, and specific detection of <i>M. tuberculosis</i>, these methods are expensive and require technical expertise.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 23","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11632860/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142729015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
<div> <section> <h3> Background</h3> <p>Parkinson's disease (PD) is a common neurodegenerative disease. Glutamate(Glu) excitotoxicity is one of the main pathogenesis of PD. Glutaminase (Gls) is an enzyme primarily responsible for catalyzing the hydrolysis and deamidation of glutamine (Gln) to produce Glu and ammonia. Inhibiting the function of Gls may have a beneficial effect on the treatment of PD by reducing the production of Glu. The homologous gene of Gls in <i>C. elegans</i> is glna.</p> </section> <section> <h3> Aims</h3> <p>To explore the effects of <i>glna</i> loss on physiological and pathological phenotype of PD <i>C. elegans</i>, and to provide new ideas and references for the research and treatment of PD.</p> </section> <section> <h3> Materials & Methods</h3> <p>We used PD <i>C. elegans</i> UA44 and QIN27 to detect development and lifespan, behavior, degeneration of dopaminergic neurons, lipid levels, ROS levels, expression levels of common amino acids.</p> </section> <section> <h3> Results</h3> <p><i>Glna</i> loss had no significant impact on the development and lifespan of PD <i>C. elegans</i>. <i>Glna</i> loss saved part of the decline of motor function, including the head thrash frequency and the body bend frequency, and the difference was significant. There was a trend of improvement in some motor behaviors, such as the ethanol avoidance experiment, while no improvement was observed in other experiments. <i>Glna</i> loss slowed down the degeneration of dopaminergic neurons. <i>Glna</i> loss increased the lipid levels and ROS levels in <i>C. elegans</i>. <i>Glna</i> loss decreased Glu content and increased Gln content in <i>C. elegans</i>.</p> </section> <section> <h3> Discussion</h3> <p>The effect of <i>glna</i> loss on PD <i>C. elegans</i> may be the result of multiple factors, such as the tissue types of α-syn expression in <i>C. elegans</i>, the PD <i>C. elegans</i> model used, the adverse effects of <i>glna</i> loss on other systems, and the changes in ROS levels in <i>C. elegans</i>. The specific mechanisms causing these phenomena are still unclear and need to be further explored.</p> </section> <section> <h3> Conclusion</h3> <p><i>Glna</i> loss has a certain protective effect on dopaminergic neurons in PD <i>C. elegans</i>, while the improvement effect on movement and behavior is limited.</p> </section>
{"title":"The Effect of glna Loss on the Physiological and Pathological Phenotype of Parkinson's Disease C. elegans","authors":"Qifei Liang, Guangrong Zhao","doi":"10.1002/jcla.25129","DOIUrl":"10.1002/jcla.25129","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Parkinson's disease (PD) is a common neurodegenerative disease. Glutamate(Glu) excitotoxicity is one of the main pathogenesis of PD. Glutaminase (Gls) is an enzyme primarily responsible for catalyzing the hydrolysis and deamidation of glutamine (Gln) to produce Glu and ammonia. Inhibiting the function of Gls may have a beneficial effect on the treatment of PD by reducing the production of Glu. The homologous gene of Gls in <i>C. elegans</i> is glna.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aims</h3>\u0000 \u0000 <p>To explore the effects of <i>glna</i> loss on physiological and pathological phenotype of PD <i>C. elegans</i>, and to provide new ideas and references for the research and treatment of PD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Materials & Methods</h3>\u0000 \u0000 <p>We used PD <i>C. elegans</i> UA44 and QIN27 to detect development and lifespan, behavior, degeneration of dopaminergic neurons, lipid levels, ROS levels, expression levels of common amino acids.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p><i>Glna</i> loss had no significant impact on the development and lifespan of PD <i>C. elegans</i>. <i>Glna</i> loss saved part of the decline of motor function, including the head thrash frequency and the body bend frequency, and the difference was significant. There was a trend of improvement in some motor behaviors, such as the ethanol avoidance experiment, while no improvement was observed in other experiments. <i>Glna</i> loss slowed down the degeneration of dopaminergic neurons. <i>Glna</i> loss increased the lipid levels and ROS levels in <i>C. elegans</i>. <i>Glna</i> loss decreased Glu content and increased Gln content in <i>C. elegans</i>.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>The effect of <i>glna</i> loss on PD <i>C. elegans</i> may be the result of multiple factors, such as the tissue types of α-syn expression in <i>C. elegans</i>, the PD <i>C. elegans</i> model used, the adverse effects of <i>glna</i> loss on other systems, and the changes in ROS levels in <i>C. elegans</i>. The specific mechanisms causing these phenomena are still unclear and need to be further explored.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p><i>Glna</i> loss has a certain protective effect on dopaminergic neurons in PD <i>C. elegans</i>, while the improvement effect on movement and behavior is limited.</p>\u0000 </section>\u0000 ","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 24","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jcla.25129","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142728972","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
I reviewed an article titled “Analysis of genotype–phenotype correlation in patients with α-thalassemia from Fujian province, Southeastern China” by Yali Pan et al. [1] at the “JCLA Journal.” I would like to thank the research team of this article who have researched and investigated the important issue of alpha thalassemia. However, there are some issues about the examined deletional mutations that can be important in future research and other researchers can provide more complete results. In this research, deletional mutations -α3.7, -α4.2 and --SEA have been investigated. However, it should be noted that another deletional mutation has been seen in China, which has not been investigated in this article. This mutation is --THAI, which is rare in China but its existence in China is mentioned in some articles [2, 3]. The importance of examining thia deletional mutation is because it causes the deletion of both alpha globin genes on the alpha gene cluster on chromosome 16, and if this mutation is combined with other single-gene or two-gene deletions on the homologous chromosome, it causes hemoglobin H disease and hydrops fetalis, respectively. Hemoglobin H disease causes severe anemia and hydrops fetalis, which is the most severe form of the disease, causes fetal death.
There are two alpha globin genes, α1 and α2, on each chromosome 16. Deletion mutations -α3.7 and -α4.2 cause the deletion of one of them and the other mentioned mutations cause the deletion of both alpha globin genes. Therefore, in genetic counseling, by examining the prevalent mutations in couples of reproductive age, we can prevent the birth of infants with severe forms of alpha thalassemia by giving more complete counseling to couples. Also, due to the laboratory similarity of mild forms of alpha thalassemia with iron deficiency anemia, by finding patients with alpha thalassemia, it is possible to prevent the wrong prescription of drugs for iron deficiency anemia patients.
{"title":"Letter to the Editor Based on Article “Analysis of Genotype–Phenotype Correlation in Patients With α-Thalassemia From Fujian Province, Southeastern China”","authors":"Majid Arash","doi":"10.1002/jcla.25128","DOIUrl":"10.1002/jcla.25128","url":null,"abstract":"<p>I reviewed an article titled “Analysis of genotype–phenotype correlation in patients with α-thalassemia from Fujian province, Southeastern China” by Yali Pan et al. [<span>1</span>] at the “<i>JCLA</i> Journal.” I would like to thank the research team of this article who have researched and investigated the important issue of alpha thalassemia. However, there are some issues about the examined deletional mutations that can be important in future research and other researchers can provide more complete results. In this research, deletional mutations -α<sup>3.7</sup>, -α<sup>4.2</sup> and --<sup>SEA</sup> have been investigated. However, it should be noted that another deletional mutation has been seen in China, which has not been investigated in this article. This mutation is --<sup>THAI</sup>, which is rare in China but its existence in China is mentioned in some articles [<span>2, 3</span>]. The importance of examining thia deletional mutation is because it causes the deletion of both alpha globin genes on the alpha gene cluster on chromosome 16, and if this mutation is combined with other single-gene or two-gene deletions on the homologous chromosome, it causes hemoglobin H disease and hydrops fetalis, respectively. Hemoglobin H disease causes severe anemia and hydrops fetalis, which is the most severe form of the disease, causes fetal death.</p><p>There are two alpha globin genes, α1 and α2, on each chromosome 16. Deletion mutations -α<sup>3.7</sup> and -α<sup>4.2</sup> cause the deletion of one of them and the other mentioned mutations cause the deletion of both alpha globin genes. Therefore, in genetic counseling, by examining the prevalent mutations in couples of reproductive age, we can prevent the birth of infants with severe forms of alpha thalassemia by giving more complete counseling to couples. Also, due to the laboratory similarity of mild forms of alpha thalassemia with iron deficiency anemia, by finding patients with alpha thalassemia, it is possible to prevent the wrong prescription of drugs for iron deficiency anemia patients.</p>","PeriodicalId":15509,"journal":{"name":"Journal of Clinical Laboratory Analysis","volume":"38 23","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11632841/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142693026","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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