Hemoglobin最新文献

{"title":"Characterization and Confirmation of Mildly Unstable Hb Pontoise or α1 63(E12) Ala > Asp and Literature Review.","authors":"Bin Tang, Keyi Chen, Lihua Liang, Jie Li, Jicheng Wang, Tianwen He, Hao Guo","doi":"10.1080/03630269.2025.2451411","DOIUrl":"https://doi.org/10.1080/03630269.2025.2451411","url":null,"abstract":"<p><p>Genotype-phenotype correlation and potential genetic risk in the compound heterozygosity for unstable hemoglobins (UHbs) and α⁰-thalassemia were discussed. Capillary electrophoresis and gene sequencing helped to establish the diagnosis. Hematological analysis showed the following findings: MCV 80.6 fL, MCH 27 pg, HGB 133 g/L, RBC 4.93 × 10¹²/L, Hb A: 94%, Hb X: 3.6% (zone 12) and Hb A₂: 2.4%. DNA analysis revealed the patient was a Hb Pontoise carrier (<i>HBA1</i>: c.191C > A). Hb Pontoise resulted from an GCC > GAC substitution at codon 63 of the <i>HBA1</i> genes, but carriers were usually asymptomatic or with only borderline hematological abnormalities. Due to mild instability of Hb Pontoise, its diagnosis relied on genetic diagnosis. Considering the high frequency of thalassemia in South China, accurate genotyping and appropriate genetic counseling should be performed for unstable hemoglobin carriers.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-5"},"PeriodicalIF":1.2,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143004598","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":"The Effect of Single Nucleotide Polymorphisms on Clinical Phenotypes of Sabahan Transfusion-Dependent β-Thalassemia Patients with Homozygous Filipino β⁰-Deletion.","authors":"Latifah Suali, Falah Abass Mohammad Salih, Mohammad Yusof Ibrahim, Mohammad Saffree Bin Jeffree, Emma Suali, Fong Siew Moy, Yap Shook Fe, Caroline Sunggip","doi":"10.1080/03630269.2024.2448175","DOIUrl":"https://doi.org/10.1080/03630269.2024.2448175","url":null,"abstract":"<p><p>Sabah has the highest prevalence of β-thalassemia in Malaysia, with the Filipino β⁰-deletion as the predominant mutation. Patients with the homozygous Filipino β⁰-deletion exhibit phenotypic heterogeneity due to various genetic modifiers, yet the effects of these modifiers on the clinical phenotype remain poorly understood. This study investigated the effects of the coinheritance of α-thalassemia, <i>Xmn</i>I-^Gγ rs7482144, <i>BCL11A</i> rs766432, and 5'HS4 rs16912979 polymorphisms on the clinical phenotype of homozygous Filipino β⁰-deletion patients in Sabah. Molecular analyses were performed on 124 homozygous Filipino β⁰-deletion patients using gap-PCR, PCR-RFLP, multiplex PCR, ARMS-PCR, gel electrophoresis, and DNA sequencing. Data showed that the coinheritance of the -α^3.7 deletion significantly affected the clinical phenotypes of homozygous Filipino β⁰-deletion patients (<i>p</i> < 0.05). Patients with the -α^3.7/-α^3.7 genotype (5.6%) had a less severe clinical phenotype compared to those with the αα/αα (71.8%) and -α^3.7/αα (22.6%) genotypes. Our data further revealed that the MAFs of the X<i>mn</i>I-^Gγ rs7482144 and <i>BCL11A</i> rs766432 polymorphisms in these patients were 0.032 and 0.194, respectively. Interestingly, none of these single nucleotide polymorphisms significantly influenced the clinical phenotype of the patients. The effect of the 5'HS4 rs16912979 polymorphism on the clinical phenotype could not be assessed due to its rarity (1.6%). However, a novel 5'HS4 c.733+G mutation was identified, warranting further investigation of its potential impact on β-thalassemia pathogenesis. Our findings indicate that the clinical phenotype of patients with the homozygous Filipino β⁰-deletion is strongly influenced by the coinheritance of the -α^3.7 deletion, but not by the <i>Xmn</i>I-^Gγ rs7482144 and <i>BCL11A</i> rs766432 polymorphisms.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-10"},"PeriodicalIF":1.2,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142978321","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":"Coexisting β-Thalassemia Trait, Gilbert Syndrome and Alpha-Globin Gene Triplication in a Child with Non-Transfusion Dependent Thalassemia Phenotype.","authors":"Ajmeera A Azeez, Prashant Sharma, Jasbir Kaur Hira, Deepak Bansal","doi":"10.1080/03630269.2024.2449450","DOIUrl":"https://doi.org/10.1080/03630269.2024.2449450","url":null,"abstract":"","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-3"},"PeriodicalIF":1.2,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142978320","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":"Identification of a β-Globin Gene Mutation with the Genotype β-28(A > G), IVS-I-5(G > A)/βCD 71/72(+A) Using Third-Generation Sequencing.","authors":"Guang-Kuan Zeng, Yan-Fang Yang, Yi-Yuan Ge, Ying Yang, Bai-Ru Lai, Yan-Bin Cao, Xiao-Hua Yu, Li-Ye Yang","doi":"10.1080/03630269.2024.2446371","DOIUrl":"https://doi.org/10.1080/03630269.2024.2446371","url":null,"abstract":"<p><p>This study presents the hematological and genetic analysis of a child with severe β-thalassemia harboring triple heterozygous mutations. The child, diagnosed with anemia at the age of 1 year, became transfusion-dependent and maintained a hemoglobin level of 72.00-84.00 g/L following regular blood transfusions. At the age of 9 years, genetic analysis was conducted using PCR-reverse dot blot (PCR-RDB), Sanger sequencing, and third-generation nanopore sequencing. Sanger sequencing identified a triple heterozygous mutation in the β-globin gene: -28(A > G) (<i>HBB</i>:c.-78A > G), IVS-I-5(G > A) (<i>HBB</i>:c0.92 + 5G > A), and CD 71/72(+A) (<i>HBB</i>:c.216_217insA). Nanopore sequencing further confirmed the genotype as β^{-28(A>G), IVS-I-5(G>A)}/β^{CD 71/72(+A)}. The combination of these mutations represents a rare β-thalassemia genotype in China, contributing to the β-globin gene mutation database for the Chinese population. This study highlights the importance of employing family analysis or third-generation sequencing technologies to clarify complex mutation linkages when Sanger sequencing alone cannot determine the relationship between multiple mutations.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-6"},"PeriodicalIF":1.2,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142948051","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":"Prevalence and Spectrum of β-Thalassemia Mutations in Baghdad, Iraq: Data from the Premarital Screening Program.","authors":"Meaad K Hassan, Raghad A Abbas, Riyad A Hassan, Israa M Taghlubee, Sara S Abd Al Majeed, Ghassan A Khaleel, Huda H Mohammed, Sundus J Hassoon, Hassan S Hatem, Hanan H Hasan, Ashwaq T Judi, Wisam J Mohammed, Dina Sami, Thamir A Hussein, Nawras A Al-Kareem, Nasir Al-Allawi","doi":"10.1080/03630269.2024.2446360","DOIUrl":"https://doi.org/10.1080/03630269.2024.2446360","url":null,"abstract":"<p><p>The knowledge of the prevalence and molecular basis of β-hemoglobinopathies constitutes an important prerequisite for an effective prevention program. To address this issue in Iraq's capital, Baghdad, a total of 12526 individuals (6263 couples) attending three main Premarital Screening centers were enrolled. Individuals were labeled as β-hemoglobin disorders based on full blood counts and high-performance liquid chromatography. For those identified as β-thalassemia trait, molecular characterization was achieved by multiplex PCR and reverse hybridization, followed by next-generation sequencing where appropriate. The prevalence of β-thalassemia and δβ-thalassemia traits were 3.5% and 0.01% respectively. For structural variants: sickle cell, hemoglobin D, C, and E traits were documented in 0.37%, 0.07%, 0.05%, and 0.04% respectively. Twenty-two couples were identified as couples at risk of having affected babies with hemoglobinopathies (3.5/1000). A total of 23 different β-thalassemia mutations were identified in studied samples, the eight most frequent of which were IVS-II-I (G > A), IVS-I-110 (G > A), IVS-I-6 (T > C), Codon 44 (-C), IVS-I-5 (G > C), IVS-I-1 (G > A), IVS-I-130 (G > C), and IVS-II-745 (C > G), accounting for 74.7% of the total mutations. In conclusion, the study illustrates the heterogeneity of β-thalassemia mutations in Iraq's capital, and identified several service indicators for prevention. Accordingly, it constitutes an important step in the setup for an effective prevention program of hemoglobinopathies.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-7"},"PeriodicalIF":1.2,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142947965","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":"First Reported Case of Hemoglobin H Disease Caused by the Rare α-Globin Gene Mutation (<i>HBA2</i> c.244delT) in a Chinese Family.","authors":"Jian-Ying Zhou, Chen-Yu Wang, Jian Li, Gui-Lan Chen, Xue-Wei Tang, Fa-Tao Li, Fan Jiang","doi":"10.1080/03630269.2024.2444360","DOIUrl":"https://doi.org/10.1080/03630269.2024.2444360","url":null,"abstract":"<p><p>Microcytosis of red cells and mild anemia are common in thalassemia carriers but those phenotypes are not specific. It is really a challenge for clinical interpretation of those variants. Co-segregation with disease in affected family members or specific phenotypes such as the abnormal Hb H are very helpful to assess the pathogenicity of rare variants. <i>HBA2</i> c.244delT was only reported in a 19-year-old woman with mild microcytosis and hypochromia. There was no other information about this variant reported before. We first described the case of this variant compounded with SEA deletion who presented with moderate anemia. Co-segregation analysis was confirmed by Sanger sequencing. Our study gave evidence for predicting the pathogenicity of this rare missense variant.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-3"},"PeriodicalIF":1.2,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142921367","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":"Sociodemographic and Clinical Factors Predictive of Poor Health-Related Quality of Life of Children with Sickle Cell Anemia in The Gambia.","authors":"Lamin Makalo, Samuel Ademola Adegoke, Stephen John Allen, Bankole Peter Kuti, Kalipha Kassama, Sheikh Joof, Mamadou Lamin Kijera, Bakary Sonko, Abdoulie Camara, Egbuna Olakunle Obidike","doi":"10.1080/03630269.2024.2440030","DOIUrl":"https://doi.org/10.1080/03630269.2024.2440030","url":null,"abstract":"<p><p>Children with sickle cell anemia (SCA) experience recurrent vaso-occlusive crises and complications, significantly impacting their health-related quality of life (HRQoL). This study determined HRQoL in 130 children aged 5 -15 years with SCA in The Gambia, compared to 130 age- and sex-matched hemoglobin AA (HbAA) children. HRQoL was measured using the Pediatric Quality of Life Inventory (PedsQL), with scores below 69.7 defined as poor HRQoL. Predictors of poor HRQoL were analyzed using binary logistic regression. The mean ages of children with SCA and HbAA were similar (9.83 ± 2.79 years vs. 9.65 ± 2.84 years, <i>p</i> = 0.598), with a male-to-female ratio of 1.1:1. SCA children showed significantly higher rates of underweight (<i>p</i> = 0.019) and stunting (<i>p</i> = 0.045) compared to HbAA children. HRQoL scores were significantly lower in the SCA group across physical, emotional, social, school, and overall domains (<i>p</i> < 0.001). A majority (57.7%) of SCA children had poor HRQoL. Key predictors of poor HRQoL among SCA children included frequent pain episodes (>3 episodes in the past 12 months; odds ratio [OR] = 1.9, <i>p</i> = 0.028), late diagnosis of SCA (OR = 1.8, <i>p</i> = 0.012), and clinical stroke (OR = 69.3, <i>p</i> = 0.037). This study demonstrates that SCA significantly reduces HRQoL in all domains. Early diagnosis, effective pain management, and prevention of complications like stroke are critical to improving outcomes. Tailored interventions are needed to mitigate the physical and psychosocial burdens of SCA among children in The Gambia.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-9"},"PeriodicalIF":1.2,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854027","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":"The First Compound Heterozygosity for Two Different α-Thalassemia Determinants Causes Hb Bart's Hydrops Fetalis in a Chinese Family.","authors":"Sisi Ning, Yunrong Qin, Yuling Xie, Yunning Liang, Yi Liang, Guanghong Wei, Yuping Zhang, Jinjie Pan, Yinghong Lu, Shiyan Liang, Ruofan Xu, Aiping Mao, Weiwu Liu","doi":"10.1080/03630269.2024.2442641","DOIUrl":"https://doi.org/10.1080/03630269.2024.2442641","url":null,"abstract":"<p><p>In southern China, α-thalassemia is the most prevalent hereditary monogenic disorder, and deletion variants are the predominant form. Conventional thalassemia diagnosis techniques are numerous, however they are all limited in their ability to detect rare deletions. Here, we discuss a family who sought genetic counseling during their fourth pregnancy after experiencing Hb Bart's hydrops fetalis in two of their previous pregnancies. To ascertain the thalassemia genotype, the family members underwent hematological testing, routine genetic analysis and multiplex ligation-dependent probe amplification (MLPA). The precise deletion locations could not be identified, while MLPA detected an unknown copy number variant. Lastly, a rare 11.1 kb deletion located in the <i>HBA</i> gene (Chr16: 170,832-182,004, GRch38/hg38) was directly identified by single-molecule real-time technology (SMRT) sequencing. Furthermore, we confirmed the compound heterozygosity of --^11.1 allele and --^SEA allele, which contributed to the explanation of the Hb Bart's hydrops fetalis syndrome in the fetuses from the second and third pregnancies. We have first verified a compound heterozygosity for --^11.1 allele and --^SEA allele. This study may provide a reference strategy for the discovery of rare and potentially novel thalassemia variants using a comprehensive method combining SMRT sequencing and conventional diagnostic technology, improving the accuracy and efficacy of thalassemia diagnosis.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-5"},"PeriodicalIF":1.2,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854069","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":"Molecular Identification and the Hematological Findings of Four Novel Variants in Globin Genes in Jiangxi Province of Southern China.","authors":"Linglong Tan, Ting Huang, Laipeng Luo, Pengpeng Ma, Jia Liu, Jun Zou, Qing Lu, Yongyi Zou, Yanqiu Liu, Haiyan Luo, Bicheng Yang","doi":"10.1080/03630269.2024.2438707","DOIUrl":"https://doi.org/10.1080/03630269.2024.2438707","url":null,"abstract":"<p><p>Hemoglobin disorders are highly prevalent inherited hematological defects in Southern China. The identification of novel variants in globin genes and accurate assessment of hematological parameters play a crucial role in precise genetic counseling and clinical practice. Peripheral blood samples were collected for hematological analysis, including red blood cell and hemoglobin assessment, while serum ferritin levels were measured to detect iron depletion. Thalassemia carrier identification was conducted in four subjects admitted to Jiangxi Maternal and Child Health Hospital using next-generation sequencing and Gap-PCR due to the high prevalence of thalassemia in Jiangxi Province. The identified rare or novel small nucleotide variants were subsequently validated through Sanger sequencing. A total of four novel variants were identified incidentally in four unrelated subjects, including <i>HBA1</i>: c.300G > C (p.Lys100Asn)<i>, HBA2</i>: c.212T > A (p.Val71Glu), <i>HBB</i>: c.28T > A (p.Ser10Thr) and c.167T > C (p.Met56Thr). The proband carrying the c.212T > A and c.300G > C variants exhibited normal hematological findings, while capillary electrophoresis revealed the presence of abnormal hemoglobin fractions at 22.4% and 10.9%. The subjects with variant <i>HBB</i>: c.28T > A and c.167T > C all demonstrated normal hematological findings and normal hemoglobin fraction as determined by capillary electrophoresis or ion exchange high-resolution liquid chromatography (HPLC). The two variants exhibiting abnormal fractions of hemoglobin were designated as Hb Jiangxi (<i>HBA2</i>: c.212T > A) and Hb Fulton (<i>HBA1</i>: c.300G > C). Meanwhile, <i>HBB</i>: c.28T > A and <i>HBB</i>: c.167T > C were referred to as Hb Yichun and Hb Jinxian, respectively. We here reported four novel variants in globin genes and their hematological findings in for unrelated Chinese individuals in Southern China. Our research has expanded the existing genetic spectrum of globin genes and enhanced our understanding of the hematological profiles associated with variant hemoglobin.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-6"},"PeriodicalIF":1.2,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142806882","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":"The Most Common Types of 3.7 Kilobase Deletion in the Iranian Population.","authors":"Fatemeh Askarian-Sardari, Samin Esmaeilian, Zahra Hajimohammadi, Mina Hayat-Nosaeid, Parisa Haghpour, Morteza Karimipoor, Elham Davoudi-Dehaghani","doi":"10.1080/03630269.2024.2435379","DOIUrl":"https://doi.org/10.1080/03630269.2024.2435379","url":null,"abstract":"<p><p>The 3.7 kb deletion is the most common known mutation in the α-globin gene cluster worldwide. The aim of this study is to investigate the most common types of 3.7 kb deletions in the Iranian population and, on the other hand, to compare the extent of deletion of the different reported types.</p><p><p>In this study, 50 Iranian α-thalassemia carriers in whom the 3.7 kb deletion had been previously identified by multiplex gap PCR, were further investigated by MLPA. A map of the region where the 3.7 kb deletion occurs was also created and the extents of the reported types were compared.</p><p><p>Approximately 90% of chromosomes with 3.7 kb deletion in this study had MLPA type D and 10% had MLPA type F. This study showed that subtype I of the 3.7 kb deletion reported by Higgs and his coworkers can be classified into at least 5 MLPA types.</p><p><p>The results of this study can be used to complete the information on the distribution of the 3.7 kb deletion subtypes in different populations. Investigation of further populations using higher resolution methods may lead to more information being obtained in this field.</p>","PeriodicalId":12997,"journal":{"name":"Hemoglobin","volume":" ","pages":"1-4"},"PeriodicalIF":1.2,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142768558","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}