First report of the spectrum of δ‐globin gene mutations among women of reproductive age in Fujian area—Discrimination of δ‐thalassemia, α‐thalassemia, and Iron Deficiency Anemia

Chen, Meihuan; Huang, Hailong; Chen, Lingji; Lin, Ning; Zhang, Min; Lin, Yuan; Xu, Liangpu

doi:10.1002/jcla.23479

Cited by 7 publications

(11 citation statements)

References 23 publications

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“…Our study has at least two potential limitations, First, we only focused on the haematological characteristic from the routine blood count specifically haemoglobin, MCV and MCH. Other parameter that could be added are Hb electrophoresis which could unravel the coinheritance of α-and β-thalassemia carrier (20), serum ferritin level to investigate the existence of iron deficiency anaemia (21), and adipokine levels which may indicate the development of inflammation-induced complications related the disease severity (22). Second, we did not collect ethnic information from the volunteers thus we cannot dispute whether the genotypes we found in this study correlated with any particular ethnicity.…”

Section: Resultsmentioning

confidence: 99%

Molecular and Haematological Characteristics of alpha-Thalassemia Deletions in Yogyakarta Special Region, Indonesia

Husna

Handayani

2021

rbmb.net

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Background: alpha-Thalassemia is caused primarily by deletions of one to two alpha-globin genes and is characterized by absent or deficient production of alpha-globin protein. The South-East Asia (SEA) deletion, 3.7-kb and 4.2-kb deletions are the most common causes. The present study aimed to observe the molecular characteristics of this common alpha-Thalassemia deletions and analyse its haematological parameter. Methods: Blood samples from 173 healthy volunteers from thalassemia carrier screening in Yogyakarta Special Region were used. Haematological parameters were analysed and used to predict the carrier subjects. Genotype of suspected carriers was determined using multiplex gap-polymerase chain reaction and its haematological parameters were compared. The boundary site of each deletion was determined by analysing the DNA sequences. Results: Seventeen (9.8%) of the volunteers were confirmed to have alpha-Thalassemia trait. Of these, four genotypes were identified namely -α 3.7 /αα (58.8%), -α 4.2 /αα (5.9%), -α 3.7 /-α 4.2 (5.9%) and --SEA /αα (29.4%). The 5′ and 3′ breakpoints of SEA deletion were located at nt165396 and nt184700 of chromosome 16, respectively. The breakpoint regions of 3.7-kb deletion were 176-bp long, whereas for 4.2-kb deletion were 321-bp long. The haematological comparison between normal and those with alpha-Thalassemia trait genotype indicated a significant difference in mean corpuscular volume (MCV) (p< 0.001) and mean corpuscular haemoglobin (MCH) (p< 0.001). As for identifying the number of defective genes, MCH parameter was more reliable (p= 0.003). Conclusions:The resultant molecular and haematological features provide insight and direction for future thalassemia screening program in the region.

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Section: Resultsmentioning

confidence: 99%

Molecular and Haematological Characteristics of alpha-Thalassemia Deletions in Yogyakarta Special Region, Indonesia

Husna

Handayani

2021

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“…Besides, we identified two δ-globin gene mutations, including -77(T > C) and CD44 (TCC > TGC) (HBD:c.134C > G). Previous studies have shown that the -77(T > C) mutation is the most common δ-globin gene mutation in China ( Liu et al, 2013 ; Chen M. et al, 2020 ) and may cause δ 0 - or δ + -thalassemia. In our case, the -77(T > C) mutation was combined with the CD17(A > T) mutation, resulting in normal levels of Hb A2 (2.7%).…”

Section: Discussionmentioning

confidence: 99%

Molecular Characterization Analysis of Thalassemia and Hemoglobinopathy in Quanzhou, Southeast China: A Large-Scale Retrospective Study

Zhuang¹,

Zhang²,

Wang³

et al. 2021

Front. Genet.

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Background: There are limited reports available on investigations into the molecular spectrum of thalassemia and hemoglobinopathy in Fujian province, Southeast China. Here, we aim to reveal the spectrum of the thalassemia mutation and hemoglobinopathy in Quanzhou prefecture, Fujian province.Methods: We collected data from a total of 17,407 subjects with the thalassemia trait in Quanzhou prefecture. Gap-PCR, DNA reverse dot blot hybridization, and DNA sequencing were utilized for common and rare thalassemia gene testing.Results: In our study, we identified 7,085 subjects who were carrying thalassemia mutations, representing a detection rate of 40.70% (7,085/17,407). Among them, 13 different α-thalassemia gene mutations were detected, with the most common mutation being –SEA (69.01%), followed by –α3.7 (21.34%) and –α4.2 (3.96%). We also discovered 26 β-thalassemia gene mutations, with the mutations of IVS-II-654 (C > T) (36.28%) and CD41/42(–TCTT) (29.16%) being the most prevalent. Besides, a variety of rare thalassemia variants were identified. Among them, the –FIL, βMalay, βIVS–I–130, and βIVS–II–672 mutations were identified in Fujian province for the first time. Additionally, we detected 78 cases of hemoglobinopathies, of which Hb Owari was the first reported case in Fujian province and Hb Miyashiro was the first case identified in the Chinese population.Conclusion: Our study indicates that there is a diverse range of thalassemia mutations, and it also reveals the mutation spectrum of rare thalassemia and hemoglobinopathies in Quanzhou, Fujian province. It provides valuable data for the prevention and control of thalassemia in Southeast China.

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“…Despite these strengths, certain limitations of our study should also be acknowledged. As mutations in HBD can cover the typical increased HbA2 value for individuals with ß -thal ( Chen et al, 2020 ), missed diagnosis may occur based on the current hematological screening strategy as the hematological parameters might be normal or borderline indices for some rare thalassemia mutation types or Hb variants. Thus, it is possible that silent mutations in α-globin genes, α triplications, or Hb variants without abnormal Hb composition were missed in this study.…”

Section: Discussionmentioning

confidence: 99%

Molecular prevalence of HBB-associated hemoglobinopathy among reproductive-age adults and the prenatal diagnosis in Jiangxi Province, southern central China

Luo

Huang

et al. 2022

Front. Genet.

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Background and aims: Hemoglobinopathy associated with the HBB gene, with its two general subtypes as thalassemia and abnormal hemoglobin (Hb) variants, is one of the most prevalent hereditary Hb disorders worldwide. Herein we aimed to elucidate the prevalence of ß-thalassemia and abnormal hemoglobin variants and the prenatal diagnosis of the HBB gene in Jiangxi Province, southern central China.Methods: Hematological indices and capillary Hb electrophoresis were conducted for 136,149 subjects who were admitted to Jiangxi Maternal and Child Health Hospital and requested for hemoglobinopathy investigation. Routine α- and ß-globin genotyping were performed by gap-polymerase chain reaction (Gap-PCR) and reverse dot-blot (RDB) hybridization for the 11,549 individuals suspected to be thalassemia carriers. For participants whose genotypes could not explain their hematological indices, further Sanger sequencing and Gap-PCR were conducted for the detection of rare or novel variants in related globin genes. Prenatal diagnosis was performed for 77 pregnant couples both carrying ß-thalassemia trait at appropriate gestational ages.Results: Among the 11,549 subjects, 2,548 individuals were identified with HBB-associated hemoglobinopathy based on molecular analysis. A total of 2,358 subjects were identified as ß-thalassemia heterozygous carriers and nine cases were diagnosed as compound heterozygous ß-thalassemia. Additionally, 125 cases were detected with composite α- and ß-thalassemia and the remaining 56 individuals with abnormal Hb variants in the HBB. A total of 35 types of variants were identified in the HBB gene, including 26 types of ß-thalassemia and nine types of abnormal Hb variants. Four novel variants were firstly reported, including one variant in HBA2 and three variants in HBB. Overall, 77 prenatal samples underwent ß-thalassemia molecular diagnosis; 20 fetuses were identified with normal ß-thalassemia genotypes, 30 fetuses as ß-thalassemia heterozygotes, 11 as homozygotes, and 16 as compound heterozygotes in HBB.Conclusion: We have demonstrated a relatively high prevalence rate at 1.872% of ß-hemoglobinopathies including common and rare ß-thalassemia as well as abnormal Hb variants among large child-bearing population in the Jiangxi area of southern central China for the first time. Our data presents that prenatal diagnosis is an effective way to prevent and control birth defects of ß-thalassemia.

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First report of the spectrum of δ‐globin gene mutations among women of reproductive age in Fujian area—Discrimination of δ‐thalassemia, α‐thalassemia, and Iron Deficiency Anemia

Abstract: This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.

Cited by 7 publications

References 23 publications

Molecular and Haematological Characteristics of alpha-Thalassemia Deletions in Yogyakarta Special Region, Indonesia

Molecular and Haematological Characteristics of alpha-Thalassemia Deletions in Yogyakarta Special Region, Indonesia

Molecular Characterization Analysis of Thalassemia and Hemoglobinopathy in Quanzhou, Southeast China: A Large-Scale Retrospective Study

Molecular prevalence of HBB-associated hemoglobinopathy among reproductive-age adults and the prenatal diagnosis in Jiangxi Province, southern central China

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