Pub Date : 2022-07-06DOI: 10.3390/thalassrep12030012
Pallavi Thaker, N. Mahajan, M. Mukherjee, R. Colah
Alpha thalassemia is an autosomal recessive disorder caused by large deletions and/or point mutations in the α- globin genes. Hemoglobin H (Hb H) disease is most frequently due to deletion of three of the four α globin genes associated with variable clinical severity depending on the genotype. There are few reports on Hb H disease in Indians where genotyping has been done and we have reviewed the molecular and clinical heterogeneity of these cases. An electronic search for relevant articles was conducted using two journal databases, i.e., PubMed and Science Direct using the key words “Hb H Disease”, “Hemoglobin H”, “α-thalassemia”, “mutations”, “molecular heterogeneity”, “case reports” and “India”. This review was performed based on preferred reporting items for the systematic review and meta-analysis protocols (PRISMA-P) guidelines. The molecular spectrum of Hb H disease in Indians includes the most common [-α3.7, -α4.2, --SA, Poly A (AATAAA→AATA--), Hb Sallanches], rare [--SEA, --MED, IVS 1nt 1 (G→A), Hb Koya Dora, Hb Sun Prairie], very rare [Hb Iberia, Hb Seal Rock, Hb Zürich-Albisrieden] and novel [Codon 76 (+T) and --Kol] α-globin gene mutations inherited largely as compound heterozygotes with considerable clinical variability. The molecular diagnosis of Hb H disease is important for genetic counseling and management.
α-地中海贫血是一种常染色体隐性遗传病，由α-珠蛋白基因的大量缺失和/或点突变引起。血红蛋白H (Hb H)疾病最常见的原因是缺失四种α珠蛋白基因中的三种，这些基因型与不同的临床严重程度相关。很少有关于印度人Hb H病的报告，其中基因分型已经完成，我们已经回顾了这些病例的分子和临床异质性。在PubMed和Science Direct两个期刊数据库中检索相关文章，检索关键词为“Hb H Disease”、“Hemoglobin H”、“α-地中海贫血”、“mutations”、“molecular heterogeneity”、“case reports”和“India”。本综述是根据系统评价和荟萃分析方案(PRISMA-P)指南的首选报告项目进行的。印度人Hb H疾病的分子谱包括最常见的[-α3.7， -α4.2， -SA, Poly A (AATAAA→AATA—)，Hb Sallanches]，罕见的[- SEA， -MED, IVS 1nt 1 (G→A)， Hb Koya Dora, Hb Sun Prairie]，非常罕见的[Hb Iberia, Hb Seal Rock, Hb z rich- albisrieden]和新的[密码子76 (+T)和-Kol] α-球蛋白基因突变，主要以复合杂合子遗传，具有相当大的临床变异性。Hb - H病的分子诊断对遗传咨询和管理具有重要意义。
{"title":"Molecular Heterogeneity of Hb H Disease in India","authors":"Pallavi Thaker, N. Mahajan, M. Mukherjee, R. Colah","doi":"10.3390/thalassrep12030012","DOIUrl":"https://doi.org/10.3390/thalassrep12030012","url":null,"abstract":"Alpha thalassemia is an autosomal recessive disorder caused by large deletions and/or point mutations in the α- globin genes. Hemoglobin H (Hb H) disease is most frequently due to deletion of three of the four α globin genes associated with variable clinical severity depending on the genotype. There are few reports on Hb H disease in Indians where genotyping has been done and we have reviewed the molecular and clinical heterogeneity of these cases. An electronic search for relevant articles was conducted using two journal databases, i.e., PubMed and Science Direct using the key words “Hb H Disease”, “Hemoglobin H”, “α-thalassemia”, “mutations”, “molecular heterogeneity”, “case reports” and “India”. This review was performed based on preferred reporting items for the systematic review and meta-analysis protocols (PRISMA-P) guidelines. The molecular spectrum of Hb H disease in Indians includes the most common [-α3.7, -α4.2, --SA, Poly A (AATAAA→AATA--), Hb Sallanches], rare [--SEA, --MED, IVS 1nt 1 (G→A), Hb Koya Dora, Hb Sun Prairie], very rare [Hb Iberia, Hb Seal Rock, Hb Zürich-Albisrieden] and novel [Codon 76 (+T) and --Kol] α-globin gene mutations inherited largely as compound heterozygotes with considerable clinical variability. The molecular diagnosis of Hb H disease is important for genetic counseling and management.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2022-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46793590","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-07-01DOI: 10.3390/thalassrep12030011
S. Byrou, G. Christopoulos, Agathoklis Christofides, C. Makariou, Christiana Ioannou, M. Kleanthous, T. Papasavva
The assignment of alleles to haplotypes in prenatal diagnostic assays has traditionally depended on family study analyses. However, this prevents the wide application of prenatal diagnosis based on haplotype analysis, especially in countries with dispersed populations. Here, we present an easy and fast approach using Droplet Digital PCR for the direct determination of haplotype blocks, overcoming the necessity for acquiring other family members’ genetic samples. We demonstrate this approach on nine families that were referred to our center for a prenatal diagnosis of β-thalassaemia using four highly polymorphic single nucleotide variations and the most common pathogenic β-thalassaemia variation in our population. Our approach resulted in the successful direct chromosomal phasing and haplotyping for all nine of the families analyzed, demonstrating a complete agreement with the haplotypes that are ascertained based on family trios. The clinical utility of this approach is envisaged to open the application of prenatal diagnosis for β-thalassaemia to all cases, while simultaneously providing a model for extending the prenatal diagnostic application of other monogenic diseases as well.
{"title":"Direct Chromosomal Phasing: An Easy and Fast Approach for Broadening Prenatal Diagnostic Applicability","authors":"S. Byrou, G. Christopoulos, Agathoklis Christofides, C. Makariou, Christiana Ioannou, M. Kleanthous, T. Papasavva","doi":"10.3390/thalassrep12030011","DOIUrl":"https://doi.org/10.3390/thalassrep12030011","url":null,"abstract":"The assignment of alleles to haplotypes in prenatal diagnostic assays has traditionally depended on family study analyses. However, this prevents the wide application of prenatal diagnosis based on haplotype analysis, especially in countries with dispersed populations. Here, we present an easy and fast approach using Droplet Digital PCR for the direct determination of haplotype blocks, overcoming the necessity for acquiring other family members’ genetic samples. We demonstrate this approach on nine families that were referred to our center for a prenatal diagnosis of β-thalassaemia using four highly polymorphic single nucleotide variations and the most common pathogenic β-thalassaemia variation in our population. Our approach resulted in the successful direct chromosomal phasing and haplotyping for all nine of the families analyzed, demonstrating a complete agreement with the haplotypes that are ascertained based on family trios. The clinical utility of this approach is envisaged to open the application of prenatal diagnosis for β-thalassaemia to all cases, while simultaneously providing a model for extending the prenatal diagnostic application of other monogenic diseases as well.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43250348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-06-22DOI: 10.3390/thalassrep12030010
H. Jalali, M. Mahdavi, Mahan Mahdavi, Adel Abbasi
This is a report of a novel variant of the α1-globin gene—(α1) α51 Gly > Cys (CE9), c.154 GGC > TGC, named Hb Mazandaran, which was observed in an Iranian family. This variant gives rise to a previously undescribed haemoglobin variant that was undetectable by capillary haemoglobin electrophoresis (CE). This variant was detected in two cases in combination with β-globin mutation, and it does not seem to be associated with severe haematological abnormalities in the carriers.
{"title":"Hb Mazandaran (α1) α51 Gly > Cys(CE9), c.154 GGC > TGC: A Novel Haemoglobin Variant of α1-Globin Gene","authors":"H. Jalali, M. Mahdavi, Mahan Mahdavi, Adel Abbasi","doi":"10.3390/thalassrep12030010","DOIUrl":"https://doi.org/10.3390/thalassrep12030010","url":null,"abstract":"This is a report of a novel variant of the α1-globin gene—(α1) α51 Gly > Cys (CE9), c.154 GGC > TGC, named Hb Mazandaran, which was observed in an Iranian family. This variant gives rise to a previously undescribed haemoglobin variant that was undetectable by capillary haemoglobin electrophoresis (CE). This variant was detected in two cases in combination with β-globin mutation, and it does not seem to be associated with severe haematological abnormalities in the carriers.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2022-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45709078","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-06-16DOI: 10.3390/thalassrep12020009
G. Calvaruso, M. Chiavetta, D. Renda, S. Raso, F. Dieli, V. L. Lentini, M. Gentile, A. Carroccio, A. Maggio
Background: Haemophagocytic lymphohistiocytosis (HLH) is a rare and potentially life-threatening systemic hyperinflammatory disease, which can have several aetiologies. Clinical case: a 48-year-old woman affected by a transfusion-dependent β-thalassemia was hospitalized in our haematology unit presenting with intermittent fever, haepatosplenomegaly and pancytopenia, which developed a few days after the booster dose of anti-SARS-CoV-2 mRNA vaccine. The investigations performed during hospitalization led to a diagnosis of HLH and steroid therapy where IV dexamethasone was initiated and provided benefits. Conclusions: the severity of HLH mandates early treatment, but the management of patients with post-vaccine HLH is still challenging and requires further study. No cases of HLH in patients with thalassemia were previously described.
{"title":"The First Case of Haemophagocytic Lymphohistiocytosis Triggered by the Booster Dose of Anti-SARS-CoV-2 Vaccine in a Patient with β-Thalassemia","authors":"G. Calvaruso, M. Chiavetta, D. Renda, S. Raso, F. Dieli, V. L. Lentini, M. Gentile, A. Carroccio, A. Maggio","doi":"10.3390/thalassrep12020009","DOIUrl":"https://doi.org/10.3390/thalassrep12020009","url":null,"abstract":"Background: Haemophagocytic lymphohistiocytosis (HLH) is a rare and potentially life-threatening systemic hyperinflammatory disease, which can have several aetiologies. Clinical case: a 48-year-old woman affected by a transfusion-dependent β-thalassemia was hospitalized in our haematology unit presenting with intermittent fever, haepatosplenomegaly and pancytopenia, which developed a few days after the booster dose of anti-SARS-CoV-2 mRNA vaccine. The investigations performed during hospitalization led to a diagnosis of HLH and steroid therapy where IV dexamethasone was initiated and provided benefits. Conclusions: the severity of HLH mandates early treatment, but the management of patients with post-vaccine HLH is still challenging and requires further study. No cases of HLH in patients with thalassemia were previously described.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":"1 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2022-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41714668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-06-06DOI: 10.3390/thalassrep12020008
S. Delicou, A. Xydaki, K. Manganas, E. Koullias, L. Evliati, Chryssoula Kalkana, M. Diamantidis, Achilles Manafas, Marianna Katsatou, Leonidas Roumpatis, Theodoros Aforozis
During a pandemic, people are fearful of becoming infected with the virus, which causes anxiety, loss of purpose, and depression. This study aimed to evaluate the social and psychological impact, as well as the impact on homecare, of patients with hemoglobinopathies during the pandemic. Material and Methods: In total, 130 patients from four Thalassemia and Sickle Cell Disease Units of the National Health System of Greece Hospitals were examined via an anonymous questionnaire developed and distributed through stratified sampling. Results: Transfusion-dependent thalassemia, transfused sickle cell disease, and other hemoglobinopathies were represented by 130 patients. During the pandemic, the main concern of patients was the affordability of blood for transfusion. During the lockdown, patients’ moods varied, and their daily lives were disrupted by a lack of access to basic goods and communication with friends and family. Their eating habits, access to exercise, and, to a lesser extent, their financial situation have all been affected in their daily lives. It is crucial to highlight that while access to health services did not suffer in terms of medication and regular visits for their actual disease, it did suffer in terms of the systematic monitoring of complications.
{"title":"The Effect of COVID-19 on Hemoglobinopathy Patients’ Daily Lives While Quarantined: Four Greek Hospitals’ Experiences","authors":"S. Delicou, A. Xydaki, K. Manganas, E. Koullias, L. Evliati, Chryssoula Kalkana, M. Diamantidis, Achilles Manafas, Marianna Katsatou, Leonidas Roumpatis, Theodoros Aforozis","doi":"10.3390/thalassrep12020008","DOIUrl":"https://doi.org/10.3390/thalassrep12020008","url":null,"abstract":"During a pandemic, people are fearful of becoming infected with the virus, which causes anxiety, loss of purpose, and depression. This study aimed to evaluate the social and psychological impact, as well as the impact on homecare, of patients with hemoglobinopathies during the pandemic. Material and Methods: In total, 130 patients from four Thalassemia and Sickle Cell Disease Units of the National Health System of Greece Hospitals were examined via an anonymous questionnaire developed and distributed through stratified sampling. Results: Transfusion-dependent thalassemia, transfused sickle cell disease, and other hemoglobinopathies were represented by 130 patients. During the pandemic, the main concern of patients was the affordability of blood for transfusion. During the lockdown, patients’ moods varied, and their daily lives were disrupted by a lack of access to basic goods and communication with friends and family. Their eating habits, access to exercise, and, to a lesser extent, their financial situation have all been affected in their daily lives. It is crucial to highlight that while access to health services did not suffer in terms of medication and regular visits for their actual disease, it did suffer in terms of the systematic monitoring of complications.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2022-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46526400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-06-06DOI: 10.3390/thalassrep12020007
D. Aslan, Şeyda Değermenci
Changes in erythrocyte parameters are well known in both β-thalassemia minor (BTM) and iron deficiency (ID) when either is present alone; however, to our knowledge, there has been no study showing the changes when the two conditions coexist. We herein assessed erythrocyte parameters in BTM with coexistent ID. The BTM cases were divided into two groups based on ferritin levels as ID+ and ID−; the ID+ group was then further divided based on hemoglobin (Hb) levels as iron-deficient carriers with (IDA+) and without (IDA−) anemia. When compared to the ID− group, all parameters were significantly different in the IDA+ group except mean corpuscular volume (MCV) and red blood cells (RBC). All parameters except RBC were significantly different between the IDA+ and IDA− groups. Hb, hematocrit (Hct), MCV, and mean corpuscular hemoglobin (MCH) levels in the IDA− group were found to be lower than in the ID− group. Changes in erythrocyte parameters in iron-deficient carriers are critical in screening for BT, particularly for correct formulation of mathematical algorithms utilized by artificial intelligence programs.
{"title":"Peripheral Blood Erythrocyte Parameters in Β-Thalassemia Minor with Coexistent Iron Deficiency: Comparisons between Iron-Deficient and -Sufficient Carriers","authors":"D. Aslan, Şeyda Değermenci","doi":"10.3390/thalassrep12020007","DOIUrl":"https://doi.org/10.3390/thalassrep12020007","url":null,"abstract":"Changes in erythrocyte parameters are well known in both β-thalassemia minor (BTM) and iron deficiency (ID) when either is present alone; however, to our knowledge, there has been no study showing the changes when the two conditions coexist. We herein assessed erythrocyte parameters in BTM with coexistent ID. The BTM cases were divided into two groups based on ferritin levels as ID+ and ID−; the ID+ group was then further divided based on hemoglobin (Hb) levels as iron-deficient carriers with (IDA+) and without (IDA−) anemia. When compared to the ID− group, all parameters were significantly different in the IDA+ group except mean corpuscular volume (MCV) and red blood cells (RBC). All parameters except RBC were significantly different between the IDA+ and IDA− groups. Hb, hematocrit (Hct), MCV, and mean corpuscular hemoglobin (MCH) levels in the IDA− group were found to be lower than in the ID− group. Changes in erythrocyte parameters in iron-deficient carriers are critical in screening for BT, particularly for correct formulation of mathematical algorithms utilized by artificial intelligence programs.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2022-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42447412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-04-29DOI: 10.3390/thalassrep12020006
A. Petrungaro, E. Quartarone, P. Sciarrone, L. Rigoli
Transfusion-dependent thalassemia patients undergo transfusion immunomodulating effects, which result in a general immune response depression and, consequently, an increase in the frequency of infectious episodes and neoplastic events due to a reduction in phagocytic function. Altered natural killer functions and IL-2-mediated lymphocytic response, defects in antigen presentation due to monocyte–macrophage cells, and decreases in bone marrow precursors and HLA II+ cells all play key roles in immunodepression in thalassemia major. SARS-CoV-2 infection presents marked lymphopenia, occurring in 96.1% of severe cases. COVID-19-related lymphopenia is due to various mechanisms, which lead to an increase in lymphocytic apoptosis. Post-COVID-19 lymphocytic quantitative and functional disorders may compromise immune response and promote the onset of infections via opportunistic pathogens. Herein, we report a case of a thalassemia major patient who developed severe post-COVID-19 lymphocytopenia, which may have facilitated the onset of a severe Klebsiella Pneumoniae infection.
{"title":"Post-COVID-19 Lymphocytopenia and Opportunistic Pathogens Infection in a Thalassemia Major Patient","authors":"A. Petrungaro, E. Quartarone, P. Sciarrone, L. Rigoli","doi":"10.3390/thalassrep12020006","DOIUrl":"https://doi.org/10.3390/thalassrep12020006","url":null,"abstract":"Transfusion-dependent thalassemia patients undergo transfusion immunomodulating effects, which result in a general immune response depression and, consequently, an increase in the frequency of infectious episodes and neoplastic events due to a reduction in phagocytic function. Altered natural killer functions and IL-2-mediated lymphocytic response, defects in antigen presentation due to monocyte–macrophage cells, and decreases in bone marrow precursors and HLA II+ cells all play key roles in immunodepression in thalassemia major. SARS-CoV-2 infection presents marked lymphopenia, occurring in 96.1% of severe cases. COVID-19-related lymphopenia is due to various mechanisms, which lead to an increase in lymphocytic apoptosis. Post-COVID-19 lymphocytic quantitative and functional disorders may compromise immune response and promote the onset of infections via opportunistic pathogens. Herein, we report a case of a thalassemia major patient who developed severe post-COVID-19 lymphocytopenia, which may have facilitated the onset of a severe Klebsiella Pneumoniae infection.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2022-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47594788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-02-18DOI: 10.3390/thalassrep12010004
Angela Vitrano, K. Musallam, A. Meloni, Sebastiano Addario Pollina, M. Karimi, A. El‐Beshlawy, M. Hajipour, V. Di Marco, S. Ansari, A. Filosa, P. Ricchi, A. Ceci, S. Daar, E. Vlachaki, S. Singer, Z. Naserullah, A. Pepe, S. Scondotto, G. Dardanoni, F. Bonifazi, V. Sankaran, E. Vichinsky, A. Taher, A. Maggio
In this work, we aimed to establish subgroups of clinical severity in a global cohort of β-thalassemia through unsupervised random forest (RF) clustering. We used a large global dataset of 7910 β-thalassemia patients and evaluated 19 indicators of phenotype severity (IPhS) to determine their contribution and relatedness in grouping β-thalassemia patients into clusters using RF analysis. RF clustering suggested that three clusters with minimal overlapping exist (classification error rate: 4.3%), and six important IPhS were identified: the current age of the patient, the mean serum ferritin level, the age at diagnosis, the age at first transfusion, the age at first iron chelation, and the number of complications. Cluster 3 represented patients with early initiation of transfusion and iron chelation, considerable iron overload, and early mortality from heart failure. Patients in Cluster 2 had lower serum ferritin levels, although they had a higher number of complications manifesting overtime. Patients in Cluster 1 represented a subgroup with delayed or absent transfusion and iron chelation, but with a high morbidity rate. Hepatic disease and cancer were dominant causes of death in patients in Cluster 1 and 2. Our findings established that patients with β-thalassemia can be clustered into three groups based on six parameters of phenotype severity.
{"title":"Random Forest Clustering Identifies Three Subgroups of β-Thalassemia with Distinct Clinical Severity","authors":"Angela Vitrano, K. Musallam, A. Meloni, Sebastiano Addario Pollina, M. Karimi, A. El‐Beshlawy, M. Hajipour, V. Di Marco, S. Ansari, A. Filosa, P. Ricchi, A. Ceci, S. Daar, E. Vlachaki, S. Singer, Z. Naserullah, A. Pepe, S. Scondotto, G. Dardanoni, F. Bonifazi, V. Sankaran, E. Vichinsky, A. Taher, A. Maggio","doi":"10.3390/thalassrep12010004","DOIUrl":"https://doi.org/10.3390/thalassrep12010004","url":null,"abstract":"In this work, we aimed to establish subgroups of clinical severity in a global cohort of β-thalassemia through unsupervised random forest (RF) clustering. We used a large global dataset of 7910 β-thalassemia patients and evaluated 19 indicators of phenotype severity (IPhS) to determine their contribution and relatedness in grouping β-thalassemia patients into clusters using RF analysis. RF clustering suggested that three clusters with minimal overlapping exist (classification error rate: 4.3%), and six important IPhS were identified: the current age of the patient, the mean serum ferritin level, the age at diagnosis, the age at first transfusion, the age at first iron chelation, and the number of complications. Cluster 3 represented patients with early initiation of transfusion and iron chelation, considerable iron overload, and early mortality from heart failure. Patients in Cluster 2 had lower serum ferritin levels, although they had a higher number of complications manifesting overtime. Patients in Cluster 1 represented a subgroup with delayed or absent transfusion and iron chelation, but with a high morbidity rate. Hepatic disease and cancer were dominant causes of death in patients in Cluster 1 and 2. Our findings established that patients with β-thalassemia can be clustered into three groups based on six parameters of phenotype severity.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2022-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46913582","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-13DOI: 10.3390/thalassrep12010003
A. Maggio
The recent transfer of Thalassemia Reports, the only journal fully dedicated on Thalassemia, from PagePress to MDPI was great news for those who contributed to the spread of the journal [...]
{"title":"The New Voice for the New Era of Thalassemia Reports","authors":"A. Maggio","doi":"10.3390/thalassrep12010003","DOIUrl":"https://doi.org/10.3390/thalassrep12010003","url":null,"abstract":"The recent transfer of Thalassemia Reports, the only journal fully dedicated on Thalassemia, from PagePress to MDPI was great news for those who contributed to the spread of the journal [...]","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2022-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43045277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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