A. M. Soler, G. A. Pedroso, A. P. M. Geraldo, D. M. Albuquerque, F. F. Costa, M. N. N. Santos, J. Knijnenburg, C. L. Harteveld, M. F. Sonati, J. A. da Luz
{"title":"A novel α0-thalassemia deletion in a Brazilian child with Hb H disease: −−Mococa","authors":"A. M. Soler, G. A. Pedroso, A. P. M. Geraldo, D. M. Albuquerque, F. F. Costa, M. N. N. Santos, J. Knijnenburg, C. L. Harteveld, M. F. Sonati, J. A. da Luz","doi":"10.1111/ijlh.14277","DOIUrl":"10.1111/ijlh.14277","url":null,"abstract":"","PeriodicalId":14120,"journal":{"name":"International Journal of Laboratory Hematology","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140590107","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tomonori Ochiai, Hajime Yasuda, Hisaya Akiba, Karin Ashizawa, Erina Hosoya, Jun Ando, Sachiko Miyake, Miki Ando
{"title":"Ectopic band 3 expression as a cause of mature ovarian teratoma-associated secondary autoimmune hemolytic anemia","authors":"Tomonori Ochiai, Hajime Yasuda, Hisaya Akiba, Karin Ashizawa, Erina Hosoya, Jun Ando, Sachiko Miyake, Miki Ando","doi":"10.1111/ijlh.14276","DOIUrl":"10.1111/ijlh.14276","url":null,"abstract":"","PeriodicalId":14120,"journal":{"name":"International Journal of Laboratory Hematology","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140590109","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Camilla J. Kobylecki, Signe Vedel-Krogh, Shoaib Afzal, Jens P. Goetze
Introduction
Thorough assessment of the antiphospholipid syndrome (APS) includes retesting of positive antiphospholipid antibody (aPL) tests after at least 12 weeks, and a full antiphospholipid antibody profile. To what extent this work-up is done in clinical practice is unknown.
Methods
Data on 25 116 in- and out-hospital patients tested for the presence of lupus anticoagulant (LA), the aPL which most strongly correlates with thrombosis, was extracted from the laboratory information system of the only laboratory that performs LA tests in the Capital Region, Denmark. We estimated fraction of repeated tests, tests repeated within the recommended time span, and fraction with a full aPL profile.
Results
Out of 25 116 patients, 843 were positive for LA (3.3%), and 3948 results were inconclusive (16%). Only 51% (95% CI of the proportion: 48%–54%) (n = 431) of positive tests were repeated. The proportion of inconclusive LA test results increased from 13% (12%–15%) in 2009 to 20% (19%–22%) in 2020. Out of the positive tests repeated within the first year, only 60/353 (17%; 13%–21%) were repeated within 12–16 weeks; 177/353 (50%; 45%–55%) were re-tested within the first 12 weeks of first positive test result. The proportion of patients with a full antiphospholipid antibody profile increased from 161/1978 (8%) in 2010 to 1041/1978 (43%) in 2020.
Conclusion
We found several issues with the laboratory workup of APS. This indicates a need for increased awareness of comprehensive laboratory assessment of possible APS as well as a closer collaboration between the laboratory and clinicians.
{"title":"Laboratory assessment of antiphospholipid syndrome: Laboratory data","authors":"Camilla J. Kobylecki, Signe Vedel-Krogh, Shoaib Afzal, Jens P. Goetze","doi":"10.1111/ijlh.14273","DOIUrl":"10.1111/ijlh.14273","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Thorough assessment of the antiphospholipid syndrome (APS) includes retesting of positive antiphospholipid antibody (aPL) tests after at least 12 weeks, and a full antiphospholipid antibody profile. To what extent this work-up is done in clinical practice is unknown.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data on 25 116 in- and out-hospital patients tested for the presence of lupus anticoagulant (LA), the aPL which most strongly correlates with thrombosis, was extracted from the laboratory information system of the only laboratory that performs LA tests in the Capital Region, Denmark. We estimated fraction of repeated tests, tests repeated within the recommended time span, and fraction with a full aPL profile.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Out of 25 116 patients, 843 were positive for LA (3.3%), and 3948 results were inconclusive (16%). Only 51% (95% CI of the proportion: 48%–54%) (<i>n</i> = 431) of positive tests were repeated. The proportion of inconclusive LA test results increased from 13% (12%–15%) in 2009 to 20% (19%–22%) in 2020. Out of the positive tests repeated within the first year, only 60/353 (17%; 13%–21%) were repeated within 12–16 weeks; 177/353 (50%; 45%–55%) were re-tested within the first 12 weeks of first positive test result. The proportion of patients with a full antiphospholipid antibody profile increased from 161/1978 (8%) in 2010 to 1041/1978 (43%) in 2020.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>We found several issues with the laboratory workup of APS. This indicates a need for increased awareness of comprehensive laboratory assessment of possible APS as well as a closer collaboration between the laboratory and clinicians.</p>\u0000 </section>\u0000 </div>","PeriodicalId":14120,"journal":{"name":"International Journal of Laboratory Hematology","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ijlh.14273","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140338313","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}
{"title":"Reference intervals in extended new red blood cell parameters based on gestational age on the first day of newborns","authors":"Aslıhan Çomruk, Zühre Kaya, Serap Kirkiz Kayalı, Ülker Koçak, Canan Türkyılmaz, Esin Koç","doi":"10.1111/ijlh.14279","DOIUrl":"10.1111/ijlh.14279","url":null,"abstract":"","PeriodicalId":14120,"journal":{"name":"International Journal of Laboratory Hematology","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140327523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Zhenyu Zhang, Yu Jing, Bin Chen, Hong Zhang, Tuo Liu, Shuran Dong, Lei Zhang, Xiaoyan Yan, Shaobin Yang, Long Chen, Yani Lin, Kun Ru
Introduction
Acute lymphoblastic leukemia (ALL) is characterized by highly genetic heterogeneity, owing to recurrent fusion genes, gene mutations, intragenic deletion, and gene overexpression, which poses significant challenges in clinical detection. RNA sequencing (RNA-seq) is a powerful tool for detecting multiple genetic abnormalities, especially cryptic gene rearrangements, in a single test.
Methods
Sixty samples (B-ALL, n = 49; T-ALL, n = 9; mixed phenotype acute leukemia (MPAL), n = 2) and 20 controls were analyzed by targeted RNA-seq panel of 507 genes developed by our lab. Of these, 16 patients were simultaneously analyzed for gene mutations at the DNA level using a next-generation sequencing panel of 51 genes. Fusion genes, CRLF2 expression, and IKZF1 intragenic deletion were also detected by reverse transcription-polymerase chain reaction (RT-PCR). Karyotype analysis was performed using the R-banding and G-banding technique on bone marrow cells after 24 hours of culture. Partial fusion genes were analyzed using fluorescence in situ hybridization (FISH).
Results
Compared with the results of Karyotype analysis, FISH, and RT-PCR, the detection rate of fusion genes by targeted RNA-seq increased from 48.3% to 58.3%, and six unexpected fusion genes were discovered, along with one rare isoform of IKZF1 intragenic deletion (IK10). The DNA sequencing analysis of 16 ALL patients revealed that 96.2% (25/26) of gene mutations identified at the DNA level were also detectable at the RNA level, except for one mutation with a low variant allele fraction. The detection of CRLF2 overexpression exhibited complete concordance between RT-PCR and RNA-seq.
Conclusion
The utilization of RNA-seq enables the identification of clinically significant genetic abnormalities that may go undetected through conventional detection methods. Its robust analytical performance might bring great application value for clinical diagnosis, prognosis, and therapy in ALL.
导言：急性淋巴细胞白血病（ALL）由于反复出现融合基因、基因突变、基因内缺失和基因过度表达，具有高度遗传异质性，这给临床检测带来了巨大挑战。RNA测序（RNA-seq）是一次性检测多种基因异常，尤其是隐性基因重排的有力工具：通过本实验室开发的包含 507 个基因的靶向 RNA-seq 面板分析了 60 份样本（B-ALL，n = 49；T-ALL，n = 9；混合表型急性白血病（MPAL），n = 2）和 20 份对照。其中，16 名患者同时接受了由 51 个基因组成的新一代测序小组的 DNA 基因突变分析。还通过反转录聚合酶链反应（RT-PCR）检测了融合基因、CRLF2表达和IKZF1基因内缺失。培养 24 小时后，采用 R 带和 G 带技术对骨髓细胞进行核型分析。使用荧光原位杂交（FISH）分析部分融合基因：结果：与核型分析、FISH和RT-PCR的结果相比，靶向RNA-seq的融合基因检出率从48.3%上升到58.3%，发现了6个意外的融合基因，以及一个罕见的IKZF1基因内缺失同工型（IK10）。对16名ALL患者的DNA测序分析显示，除了一个变异等位基因比例较低的基因突变外，96.2%（25/26）在DNA水平发现的基因突变在RNA水平也能检测到。RT-PCR和RNA-seq对CRLF2过表达的检测结果完全一致：结论：RNA-seq 的使用能够发现传统检测方法可能无法检测到的具有临床意义的基因异常。RNA-seq强大的分析性能可能会为ALL的临床诊断、预后和治疗带来巨大的应用价值。
{"title":"The application of targeted RNA sequencing for the analysis of fusion genes, gene mutations, IKZF1 intragenic deletion, and CRLF2 overexpression in acute lymphoblastic leukemia","authors":"Zhenyu Zhang, Yu Jing, Bin Chen, Hong Zhang, Tuo Liu, Shuran Dong, Lei Zhang, Xiaoyan Yan, Shaobin Yang, Long Chen, Yani Lin, Kun Ru","doi":"10.1111/ijlh.14269","DOIUrl":"10.1111/ijlh.14269","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Acute lymphoblastic leukemia (ALL) is characterized by highly genetic heterogeneity, owing to recurrent fusion genes, gene mutations, intragenic deletion, and gene overexpression, which poses significant challenges in clinical detection. RNA sequencing (RNA-seq) is a powerful tool for detecting multiple genetic abnormalities, especially cryptic gene rearrangements, in a single test.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Sixty samples (B-ALL, <i>n</i> = 49; T-ALL, <i>n</i> = 9; mixed phenotype acute leukemia (MPAL), <i>n</i> = 2) and 20 controls were analyzed by targeted RNA-seq panel of 507 genes developed by our lab. Of these, 16 patients were simultaneously analyzed for gene mutations at the DNA level using a next-generation sequencing panel of 51 genes. Fusion genes, <i>CRLF2</i> expression, and <i>IKZF1</i> intragenic deletion were also detected by reverse transcription-polymerase chain reaction (RT-PCR). Karyotype analysis was performed using the R-banding and G-banding technique on bone marrow cells after 24 hours of culture. Partial fusion genes were analyzed using fluorescence in situ hybridization (FISH).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Compared with the results of Karyotype analysis, FISH, and RT-PCR, the detection rate of fusion genes by targeted RNA-seq increased from 48.3% to 58.3%, and six unexpected fusion genes were discovered, along with one rare isoform of <i>IKZF1</i> intragenic deletion (IK10). The DNA sequencing analysis of 16 ALL patients revealed that 96.2% (25/26) of gene mutations identified at the DNA level were also detectable at the RNA level, except for one mutation with a low variant allele fraction. The detection of <i>CRLF2</i> overexpression exhibited complete concordance between RT-PCR and RNA-seq.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The utilization of RNA-seq enables the identification of clinically significant genetic abnormalities that may go undetected through conventional detection methods. Its robust analytical performance might bring great application value for clinical diagnosis, prognosis, and therapy in ALL.</p>\u0000 </section>\u0000 </div>","PeriodicalId":14120,"journal":{"name":"International Journal of Laboratory Hematology","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140327524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Revealing cyclic thrombocytopenia: The role of periodogram analysis and the impact of thrombopoietin receptor agonist therapy","authors":"Atsushi Isoda, Hiroaki Kurashina, Reo Usami, Yukie Terasaki, Naoki Akashi, Masahiro Mihara, Hirono Iriuchishima, Akio Saito, Morio Matsumoto, Morio Sawamura","doi":"10.1111/ijlh.14278","DOIUrl":"10.1111/ijlh.14278","url":null,"abstract":"","PeriodicalId":14120,"journal":{"name":"International Journal of Laboratory Hematology","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140320250","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Marthe Vanrenterghem, Julie Dom, Nancy Boeckx, Melissa Depypere, Glynis Frans, Georges Vles, Christine Van Laer
Introduction
Falsely elevated synovial white blood cell (WBC) counts using automated hematology analyzers have been reported particularly in the setting of joint arthroplasty. We evaluated the implementation of a laboratory workflow based on Sysmex XN-1000-automated cell counting and scattergram interpretation.
Methods
WBC and differential were measured for 76 synovial fluid samples (29 native joints and 47 with joint arthroplasties) with Sysmex XN-1000 and manual methods. All scattergrams were evaluated for possible incorrect WBC and/or differential according to our implemented workflow. A specific finding was the “banana-shape” scattergram, which indicates possible interferences. The European Bone & Joint Infection Society (EBJIS) criteria were applied to identify possible prosthetic joint infections (PJIs) in patients with joint arthroplasties.
Results
Correlation between automated and manual WBC counts, calculated for samples with WBC count <50 000/μL, was higher for native joints (r = 0.938) compared with patients known with arthroplasty (r = 0.906). Scattergrams classified as OK showed overall a higher correlation compared with scattergrams, which were interpreted as NOT OK. “Banana-shape” scattergrams (n = 19) showed falsely elevated automated WBC count, and the patterns were mainly seen in prosthesis patients (17/19 [89%]). Six of 47 (13%) patients with joint arthroplasties were reclassified from “confirmed” to “unlikely” PJI according to the EBJIS criteria.
Conclusion
Our workflow based on scattergram interpretation resulted in accurate WBC counts in synovial fluid using automated/and or manual methods. It is important to identify the presence of “banana-shape” scattergrams to avoid overestimated automated WBC counts. Overall, automated synovial WBC count can be used, even for patients with arthroplasty, but after visual inspection of the scattergram to exclude possible interferences.
{"title":"Laboratory workflow for optimizing leukocyte count and differential in synovial fluids on Sysmex XN-1000","authors":"Marthe Vanrenterghem, Julie Dom, Nancy Boeckx, Melissa Depypere, Glynis Frans, Georges Vles, Christine Van Laer","doi":"10.1111/ijlh.14274","DOIUrl":"10.1111/ijlh.14274","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Falsely elevated synovial white blood cell (WBC) counts using automated hematology analyzers have been reported particularly in the setting of joint arthroplasty. We evaluated the implementation of a laboratory workflow based on Sysmex XN-1000-automated cell counting and scattergram interpretation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>WBC and differential were measured for 76 synovial fluid samples (29 native joints and 47 with joint arthroplasties) with Sysmex XN-1000 and manual methods. All scattergrams were evaluated for possible incorrect WBC and/or differential according to our implemented workflow. A specific finding was the “banana-shape” scattergram, which indicates possible interferences. The European Bone & Joint Infection Society (EBJIS) criteria were applied to identify possible prosthetic joint infections (PJIs) in patients with joint arthroplasties.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Correlation between automated and manual WBC counts, calculated for samples with WBC count <50 000/μL, was higher for native joints (<i>r</i> = 0.938) compared with patients known with arthroplasty (<i>r</i> = 0.906). Scattergrams classified as OK showed overall a higher correlation compared with scattergrams, which were interpreted as NOT OK. “Banana-shape” scattergrams (<i>n</i> = 19) showed falsely elevated automated WBC count, and the patterns were mainly seen in prosthesis patients (17/19 [89%]). Six of 47 (13%) patients with joint arthroplasties were reclassified from “confirmed” to “unlikely” PJI according to the EBJIS criteria.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our workflow based on scattergram interpretation resulted in accurate WBC counts in synovial fluid using automated/and or manual methods. It is important to identify the presence of “banana-shape” scattergrams to avoid overestimated automated WBC counts. Overall, automated synovial WBC count can be used, even for patients with arthroplasty, but after visual inspection of the scattergram to exclude possible interferences.</p>\u0000 </section>\u0000 </div>","PeriodicalId":14120,"journal":{"name":"International Journal of Laboratory Hematology","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140290061","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"An update on the activities of the International Society for Laboratory Hematology, 2024","authors":"John L. Frater, Tracy I. George","doi":"10.1111/ijlh.14270","DOIUrl":"10.1111/ijlh.14270","url":null,"abstract":"","PeriodicalId":14120,"journal":{"name":"International Journal of Laboratory Hematology","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140186748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pseudo-Chediak-Higashi granules are large cytoplasmic inclusions commonly encountered in myeloblasts or other myeloid precursors in acute myeloid leukemia and myelodysplastic syndromes. However, pseudo-Chediak-Higashi granules are rarely found in acute lymphoblastic leukemia (ALL). We present the case of an 8-year-old boy who was diagnosed with ALL with pseudo-Chediak-Higashi granules in the initial diagnosis and relapse, acting like a characteristic marker.
{"title":"Acute lymphoblastic leukemia with pseudo-Chediak-Higashi granules in the initial diagnosis and relapse","authors":"Rongjie Li, Shimei Xia, Yingyan Liao, Bailing Zhou","doi":"10.1111/ijlh.14271","DOIUrl":"10.1111/ijlh.14271","url":null,"abstract":"<p>Pseudo-Chediak-Higashi granules are large cytoplasmic inclusions commonly encountered in myeloblasts or other myeloid precursors in acute myeloid leukemia and myelodysplastic syndromes. However, pseudo-Chediak-Higashi granules are rarely found in acute lymphoblastic leukemia (ALL). We present the case of an 8-year-old boy who was diagnosed with ALL with pseudo-Chediak-Higashi granules in the initial diagnosis and relapse, acting like a characteristic marker.</p>","PeriodicalId":14120,"journal":{"name":"International Journal of Laboratory Hematology","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140186747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pallavi Thaker, Namrata Mahajan, Malay B. Mukherjee, Roshan B. Colah
The hemoglobin (Hb) variants are qualitative abnormalities due to production of structurally abnormal globin proteins. They are categorized based on the type of mutation present in the α1, α2, β, Gγ, Aγ and δ globin genes. So far, more than 1550 Hb variants are reported in the database. They could lead to Hb polymerization, Hb instability, altered oxygen affinity and decreased oxygen-carrying capacity of Hb or have no clinical manifestations. In India, ethnic diversity, consanguinity, regional variations and migration result in the presence of different Hb variants. We have compiled all the variants of α, β and δ globin chains in heterozygous, homozygous and in compound heterozygous forms reported from India in the last 52 years. Of the 63 rare and novel hemoglobin variants reported from India, 22 were α-globin chain variants, 37 were β-globin chain variants and 4 were δ-globin chain variants. Twelve novel Hb variants (Hb J Rajappan, Hb Koya Dora, Hb Rampa, Hb Godavari, Hb Chandigarh, Hb D Agri, Hb Lucknow, Hb Vellore, Hb Midnapore, Hb Bijnor, Hb A2Tianhe and Hb A2Saurashtra) were identified among persons of Indian origin. Majority of them were picked up on HPLC. Some of the variants like Hb Titusville, Hb Shimonoseki, Hb Chandigarh, Hb D Agri, Hb Yaizu and Hb Vellore eluted in the HbS window whereas variants like HbD Iran, Hb St. Louis, Hb G Coushata, HbM Saskatoon, Hb Lucknow, Hb Grange-Blanche and Hb Tianshui showed falsely elevated HbA2. Hence, careful and systematic investigations are required to identify them.
{"title":"Wide spectrum of novel and rare hemoglobin variants in the multi-ethnic Indian population: A review","authors":"Pallavi Thaker, Namrata Mahajan, Malay B. Mukherjee, Roshan B. Colah","doi":"10.1111/ijlh.14267","DOIUrl":"10.1111/ijlh.14267","url":null,"abstract":"<p>The hemoglobin (Hb) variants are qualitative abnormalities due to production of structurally abnormal globin proteins. They are categorized based on the type of mutation present in the α1, α2, β, Gγ, Aγ and δ globin genes. So far, more than 1550 Hb variants are reported in the database. They could lead to Hb polymerization, Hb instability, altered oxygen affinity and decreased oxygen-carrying capacity of Hb or have no clinical manifestations. In India, ethnic diversity, consanguinity, regional variations and migration result in the presence of different Hb variants. We have compiled all the variants of α, β and δ globin chains in heterozygous, homozygous and in compound heterozygous forms reported from India in the last 52 years. Of the 63 rare and novel hemoglobin variants reported from India, 22 were α-globin chain variants, 37 were β-globin chain variants and 4 were δ-globin chain variants. Twelve novel Hb variants (Hb J Rajappan, Hb Koya Dora, Hb Rampa, Hb Godavari, Hb Chandigarh, Hb D Agri, Hb Lucknow, Hb Vellore, Hb Midnapore, Hb Bijnor, Hb A<sub>2</sub>Tianhe and Hb A<sub>2</sub>Saurashtra) were identified among persons of Indian origin. Majority of them were picked up on HPLC. Some of the variants like Hb Titusville, Hb Shimonoseki, Hb Chandigarh, Hb D Agri, Hb Yaizu and Hb Vellore eluted in the HbS window whereas variants like HbD Iran, Hb St. Louis, Hb G Coushata, HbM Saskatoon, Hb Lucknow, Hb Grange-Blanche and Hb Tianshui showed falsely elevated HbA<sub>2</sub>. Hence, careful and systematic investigations are required to identify them.</p>","PeriodicalId":14120,"journal":{"name":"International Journal of Laboratory Hematology","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/ijlh.14267","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140170980","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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