Hemoglobin最新文献

{"title":"Mutation Spectrum of β-Thalassemia in Some Ethnic Groups of North Maharashtra, India.","authors":"Ranjeet Kumar,&nbsp;Syed Abrar Ahmad,&nbsp;Mustafa Ozdemir,&nbsp;Sakthivel Sadayappan,&nbsp;Varsha Wankhade","doi":"10.1080/03630269.2023.2212911","DOIUrl":"https://doi.org/10.1080/03630269.2023.2212911","url":null,"abstract":"<p><p>Beta-thalassemia is the most common inherited single-gene disorder in the world, caused by more than 200 known mutations in the <i>HBB</i> gene. In India, the average prevalence of β-thalassemia carriers is 3-4%. Several ethnic groups have a much higher prevalence, about 8% in the tribal groups, according to the 2011 census. The study's main goal is to identify common β-thalassemia mutations and the frequencies of different haplotypes in various communities in North Maharashtra. Nashik district had the highest prevalence of β-thalassemia (34%), followed by Ahmednagar (29%), Jalgaon (16%), Dhule (14%), and Nandurbar (7.0%). Prevalence of β-thalassemia was highest in the schedule caste community (SC) (48%), followed by (17%) in Muslims, (14%) in other backward classes (OBC), (13%) in Schedule Tribe (ST), and (8.0%) in the general population The six most common β-thalassemia mutations detected in this study are IVS 1 > 5 (G→C), Cd 15(G→A), Cd 41/41 (-TCTT), Cd 8/9(+G), IVS 1 > 1(G→T) and Cap + 1(A > G). Among these mutations, IVS 1 > 5 (G > C) was the most common type of mutation found in β-thalassemia patients in the North Maharashtra population. Type-I haplotype was the most prevalent among all communities. Nashik and Ahmednagar districts were highly affected by β-thalassemia. Among different ethnic groups, the SC and Muslim communities were the worst affected with a higher proportion of β-thalassemia and increased frequency of mutations.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"47 3","pages":"105-110"},"PeriodicalIF":1.0,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10322434","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":"α- and β-Globin Gene Mutations in Individuals with Hemoglobinopathies in the Chattogram and Sylhet Regions of Bangladesh.","authors":"Tamanna Kabir,&nbsp;Saeed Anwar,&nbsp;Jarin Taslem Mourosi,&nbsp;Shanjida Akter,&nbsp;Mohammad Jakir Hosen","doi":"10.1080/03630269.2023.2166526","DOIUrl":"https://doi.org/10.1080/03630269.2023.2166526","url":null,"abstract":"<p><p>Hemoglobinopathies, including α- and β-thalassemias and sickle cell disease, are among the most widely disseminated hereditary blood disorders worldwide. Bangladesh is considered a hotspot for hemoglobinopathies, and these diseases cause a significant health concern in the country. However, the country has a dearth of knowledge on the molecular etiology and carrier frequency of thalassemias, primarily due to a lack of diagnostic facilities, limited access to information, and the absence of efficient screening programs. This study sought to investigate the spectrum of mutations underlying hemoglobinopathies in Bangladesh. We developed a set of polymerase chain reaction (PCR)-based techniques to detect mutations in α- and β-globin genes. We recruited 63 index subjects with previously diagnosed thalassemia. Along with age- and sex-matched control subjects, we assessed several hematological and serum indices and genotyped them using our PCR-based methods. We identified that parental consanguinity was associated with the occurrence of these hemoglobinopathies. Our PCR-based genotyping assays identified 23 <i>HBB</i> genotypes, with the codons 41/42 (-TTCT) (<i>HBB</i>: c.126_129delCTTT) mutation leading the spectrum. We also observed the presence of cooccurring <i>HBA</i> conditions, of which the participants were not aware. All index participants in this study were on iron chelation therapies, yet we found they had very high serum ferritin (SF) levels, indicating inefficient management of the individuals undergoing such treatments. Overall, this study provides essential information on the hemoglobinopathy mutation spectrum in Bangladesh and highlights the need for nationwide screening programs and an integrated policy for diagnosing and managing individuals with hemoglobinopathies.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"47 1","pages":"3-10"},"PeriodicalIF":1.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9440441","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":"Editorial.","authors":"Adekunle D Adekile","doi":"10.1080/03630269.2023.2179795","DOIUrl":"https://doi.org/10.1080/03630269.2023.2179795","url":null,"abstract":"","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"47 1","pages":"1-2"},"PeriodicalIF":1.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9448804","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":"Novel Promoter Mutation (<i>HBB</i>:C.-139_-138del) Associated with β-Thalassemia Trait Detected by Next-Generation Sequencing in Southern China.","authors":"Lei Pan,&nbsp;Peirun Tian,&nbsp;Shiping Chen,&nbsp;Rui Zhang","doi":"10.1080/03630269.2023.2182215","DOIUrl":"https://doi.org/10.1080/03630269.2023.2182215","url":null,"abstract":"<p><p>Here we report a novel β-globin gene mutation in the promoter (<i>HBB</i>:c.-139_-138delAC) detected by next-generation sequencing (NGS). The proband was a 28-year-old Chinese male, living in Shenzhen City, Guangdong Province, who originates from Hunan Province. The red cell indices were almost normal, with a slightly decreased Red Cell volume Distribution Width(RDW). Capillary electrophoresis (CE) showed the Hb A (93.1%) value was below normal, while the Hb A₂ (4.2%) and Hb F (2.7%) values were both beyond normal. A set of genetic tests of the α and β-globin genes were then performed to determine whether the subject carried any causative mutations. The results of NGS revealed a two-base pair deletion at position -89 to -88(<i>HBB</i>:c.-139_-138delAC）in the heterozygous state, which was subsequently confirmed by Sanger sequencing.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"47 1","pages":"21-24"},"PeriodicalIF":1.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9793657","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":"Effect of α⁺ Thalassemia on the Severity of <i>Plasmodium falciparum</i> Malaria in Different Sickle Cell Genotypes in Indian Adults: A Hospital-Based Study.","authors":"Prasanta Purohit,&nbsp;Pradeep Kumar Mohanty,&nbsp;Jogeswar Panigrahi,&nbsp;Kishalaya Das,&nbsp;Siris Patel","doi":"10.1080/03630269.2023.2168201","DOIUrl":"https://doi.org/10.1080/03630269.2023.2168201","url":null,"abstract":"<p><p>There is a paucity of literature on the association of α⁺-thalassemia, sickle-cell hemoglobin disorders, and malaria in India. This study aimed to understand the effect of α⁺-thalassemia on the severity of <i>Plasmodium falciparum</i> malaria in adults with respect to sickle-cell genotypes. The study subjects were categorized into 'severe-malaria' and 'uncomplicated-malaria' and age-gender matched 'control' groups. Sickle-cell and α⁺-thalassemia were investigated in all the recruited subjects. The effect of α⁺-thalassemia on the severity of malaria was analyzed in HbAA and sickle-cell genotypes (HbAS and HbSS) separately. The prevalence of α⁺-thalassemia in various groups ranged from 41.5% to 81.8%. The prevalence of α⁺-thalassemia was lower (OR = 1.64; <i>p =</i> 0.0013) in severe malaria (41.5%) as compared to healthy controls (53.8%) with HbAA genotype. In contrast, in HbAS genotype, the prevalence of α⁺-thalassemia was higher (OR = 4.11; <i>p =</i> 0.0002) in severe malaria (81.8%) compared to controls (52.2%). In severe malaria with HbAA genotype, there was a significantly higher hemoglobin level and low MCV and MCH level in patients with α⁺-thalassemia compared to the normal α-globin genotype. Further, the incidence of cerebral malaria, hepatopathy, and mortality was lower in patients (HbAA) with α⁺-thalassemia as compared to normal α-globin genotype (HbAA). In severe malaria with either HbAS or HbSS genotype, only a few parameters showed statistical differences with respect to α⁺-thalassemia. Low prevalence of α⁺-thalassemia in severe malaria with HbAA genotype compared to healthy controls with HbAA genotype indicates the protective effect of α⁺-thalassemia against severe malaria. However, the high prevalence of α⁺-thalassemia in patients with HbAS genotype depicts its interference in the protective effect of sickle-cell against severe malaria.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"47 1","pages":"11-18"},"PeriodicalIF":1.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9443229","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":"Editorial","authors":"A. Adekile","doi":"10.1007/s11654-023-00491-y","DOIUrl":"https://doi.org/10.1007/s11654-023-00491-y","url":null,"abstract":"","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"47 1","pages":"1 - 2"},"PeriodicalIF":1.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49403015","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":"Fist Detection of Hb Suqian[β42(CD1) Phe→Leu, HBB:c.129T > A] in Han Chinese.","authors":"Wenjuan Wang,&nbsp;Zixuan Ding,&nbsp;Airui Jiang,&nbsp;Suning Chen,&nbsp;Huanju Han","doi":"10.1080/03630269.2023.2167658","DOIUrl":"https://doi.org/10.1080/03630269.2023.2167658","url":null,"abstract":"<p><p>We have identified a variant on the β-globin gene in a Chinese female. Sequencing of the HBB gene revealed a Phe→Leu substitution at codon 42[β42(CD1) Phe→Leu, HBB:c.129T > A] which has been named Hb Suqian for where the proband was born.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"47 1","pages":"19-20"},"PeriodicalIF":1.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9450135","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":"Genotype-Phenotype Study of β-Thalassemia Patients in Sabah.","authors":"Latifah Suali,&nbsp;Falah Abass Mohammad Salih,&nbsp;Mohammad Yusof Ibrahim,&nbsp;Mohammad Saffree Bin Jeffree,&nbsp;Fiona Macniesia Thomas,&nbsp;Fong Siew Moy,&nbsp;Yap Shook Fe,&nbsp;Emma Suali,&nbsp;Suhaini Sudi,&nbsp;Caroline Sunggip","doi":"10.1080/03630269.2023.2169154","DOIUrl":"https://doi.org/10.1080/03630269.2023.2169154","url":null,"abstract":"<p><p>β-thalassemia is a serious public health problem in Sabah due to its high prevalence. This study aimed to investigate the effects of different types of β-globin gene mutations, coinheritance with α-globin gene mutations, <i>Xmn</i>I-^Gγ, and rs368698783 polymorphisms on the β-thalassemia phenotypes in Sabahan patients. A total of 111 patients were included in this study. The sociodemographic profile of the patients was collected using a semi-structured questionnaire, while clinical data were obtained from their medical records. Gap-PCR, ARMS-PCR, RFLP-PCR, and multiplex PCR were performed to detect β- and α-globin gene mutations, as well as <i>Xmn</i>I-^Gγ and rs368698783 polymorphisms. Our data show that the high prevalence of β-thalassemia in Sabah is not due to consanguineous marriages (5.4%). A total of six different β-globin gene mutations were detected, with Filipino β°-deletion being the most dominant (87.4%). There were 77.5% homozygous β-thalassemia patients, 16.2% compound heterozygous β-thalassemia patients, and 6.3% β-thalassemia/Hb E patients. Further evaluation on compound heterozygous β-thalassemia and β-thalassemia/Hb E patients found no concomitant α-globin gene mutations and the rs368698783 polymorphism. Furthermore, the <i>Xmn</i>I-^Gγ (-/+) genotype did not demonstrate a strong impact on the disease phenotype, as only two of five patients in the compound heterozygous β-thalassemia group and two of three patients in the β-thalassemia/Hb E group had a moderate phenotype. Our findings indicate that the severity of the β-thalassemia phenotypes is closely related to the type of β-globin gene mutations but not to the <i>Xmn</i>I-^Gγ and rs368698783 polymorphisms.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"46 6","pages":"317-324"},"PeriodicalIF":1.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10852159","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":"Use of Capillary Electrophoresis Migration Position for the Presumptive Identification of Hemoglobin Variants Prevalent in China.","authors":"Miao Xu,&nbsp;Ming-Yang Li,&nbsp;Yu Zeng,&nbsp;Weijie Xie,&nbsp;An-Ping Xu,&nbsp;Ling Ji","doi":"10.1080/03630269.2022.2151463","DOIUrl":"https://doi.org/10.1080/03630269.2022.2151463","url":null,"abstract":"<p><p>Capillary electrophoresis (CE) is increasingly being used to screen for hemoglobinopathies. We here report the migration position of hemoglobin (Hb) variants prevalent in China determined by CE. The CE migration position showed excellent precision and minor inter-individual variation. We conclude that the CE migration position can be used as a reliable indicator for identifying Hb variants and can also help to establish a well-characterized library of Hb variants for their refined presumptive identification.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"46 6","pages":"330-334"},"PeriodicalIF":1.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9408103","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":"Evaluation of the Function of a Rare Variant in the 3'-Untranslated Region of the β-Globin Gene.","authors":"Sogol Targholi,&nbsp;Zahra Noormohammadi,&nbsp;Elham Tafsiri,&nbsp;Morteza Karimipoor","doi":"10.1080/03630269.2023.2167660","DOIUrl":"https://doi.org/10.1080/03630269.2023.2167660","url":null,"abstract":"<p><p>β-Thalassemia (β-thal) is an inherited genetic disease that occurs because of the absence or reduction of β-globin chain synthesis. Genetic changes occur in different regions of the β-globin gene, but these mutations are less reported in the 3' untranslated region (3'-UTR). The objective of the present investigation was to evaluate the functional effect of a rare variant in the 3'-UTR of the β-globin gene. A variant at the first nucleotide of the 3'-UTR of the β-globin gene (<i>HBB</i>: c.*1G > A) was identified by DNA sequencing in an individual with low hematological indices and a normal hemoglobin (Hb) electrophoresis pattern. To evaluate the functional effect of this variant, the normal and mutated 3'-UTR of the β-globin gene was synthesized separately and sub cloned in the psiCHEK2 vector. Next, using the calcium phosphate method, the psiCHEK2 vectors containing normal and mutated 3'-UTR were transfected separately into the HEK293T cell line. Finally, the transfected cell line was analyzed by dual luciferase assay. The ratio of Renilla to firefly for the mutant sample was 1.26 ± 0.06, while for normal samples it was 1.12 ± 0.04. The results of the luciferase assay showed that there was no significant difference in the functional effect between the mutant and wild type construct. Therefore, it was concluded that this variant might not reduce the expression of the β-globin gene. Future studies by globin chain synthesis or to evaluate the expression of the gene in erythroid cells, might be necessary to understand the regulatory function of this mutation.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":"46 6","pages":"312-316"},"PeriodicalIF":1.0,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10852639","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}