Cross-Sectional Study for the Detection of Mutations in the Beta-Globin Gene Among Patients with Hemoglobinopathies in the Bengali Population

Panja, Amrita; Chowdhury, Prosanto; Chakraborty, Sharmistha; Ghosh, T. K.; Basu, Anupam

doi:10.1089/gtmb.2016.0186

Cited by 10 publications

(10 citation statements)

References 29 publications

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“…Among them, CD53 (-T), CD37 (A>G) and −90 (C>T) mutations were first revealed in Fujian province of Southeast China. Moreover, the CD3 (T>C) synonymous mutation had been reported in the Japanese population23 and was first found in the Chinese population. In light of this study, we should pay more attention to the thalassemia gene testing results when it inconsistent with the results of the thalassaemia screening.…”

Section: Discussionmentioning

confidence: 98%

Molecular analysis of α-thalassemia and β-thalassemia in Quanzhou region Southeast China

Zhuang¹,

Jiang²,

Wang³

et al. 2019

J Clin Pathol

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AimsThalassemia is one of the most prevalent inherited disorders in south China. However, there still has no comprehensive research on molecular characterisation of α-thalassemia and β-thalassemia in the Quanzhou region of Fujian province, a city with high incidence of thalassemia in Southeast China.MethodsA total of 11 668 cases were collected in Quanzhou region from January 2013 to June 2019. The deletions of α-thalassemia were detected by Gap-PCR, α-thalassemia and β-thalassemia mutations were detected by DNA reverse dot blot hybridisation. Rare thalassemia gene testing and DNA sequencing were performed to detect rare and novel thalassemia mutation for suspected rare thalassemia carriers.ResultsAmong 11 668 subjects, 4796 (41.10%) subjects were diagnosed with thalassemia. 3298 (28.27%) subjects were α-thalassemia carriers, 26 types of α-thalassemia mutations were identified, with the common α-thalassemia genotypes being --SEA/αα (71.47%), -α3.7/αα (17.13%) and -α4.2/αα (3.49%). 1407 (12.06%) subjects were β-thalassemia carriers, 18 types of β-thalassemia mutations were identified. The common five genotypes of β-thalassemia were βIVS-II-654/βN (36.53%), βCD41-42/βN (30.28%), βCD17/βN (17.13%), βCD26/βN (5.12%) and β-28/βN (4.62%). Additionally, 91 (0.78%) subjects with composite α-thalassemia and β-thalassemia were identified. Furthermore, 9 α-thalassemia and β-thalassemia gene mutations (CAP +40–43 (-AAAC), IVS-I-1 (G>T), IVS-I-5 (G>C), SEA-HPFH, CD53 (-T), CD37 (A>G), −90 (C>T), CD3 (T>C), -α6.9) were identified for the first time in the region. Among them, CD53 (-T), CD37 (A>G) and −90 (C>T) mutations were identified for the first time in Fujian province. Moreover, CD3 (T>C), -α6.9 mutations were first identified in Chinese individual.ConclusionsQuanzhou region of South China has high incidence of thalassemia mutations. In this study, several cases of rare thalassemia mutations have been identified, providing reference for clinical consultation. The completion of this study is of great significance to strengthen the prevention and control of thalassaemia in the Quanzhou region.

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Section: Discussionmentioning

confidence: 98%

Molecular analysis of α-thalassemia and β-thalassemia in Quanzhou region Southeast China

Zhuang¹,

Jiang²,

Wang³

et al. 2019

J Clin Pathol

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“…There are a few recent reports of novel mutations as well like Codon 2 (−A), −42 (C>G), and −223 (T>C) from eastern India and Codon 53 (C>T) from West Bengal . We identified 49 different mutations which also included some novel and very rare ones.…”

Section: Discussionmentioning

confidence: 90%

“…33 There are a few recent reports of novel mutations as well like Codon 2 (−A), −42 (C>G), and −223 (T>C) from eastern India 35 and Codon 53 (C>T) from West Bengal. 36 We identified 49 different mutations which also included some novel and very rare ones. and eight of them had a β gene defect [IVS I-5 (G>C)-3, 619 bp deletion-2, codon 41/42-1, Capsite + 1 (A>C)-2].…”

Section: Discussionmentioning

confidence: 99%

The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center

Nadkarni

Gorakshakar

Sawant

et al. 2018

Int J Lab Hematology

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Introduction The hemoglobinopathies pose a significant health burden in India. Apart from the β thalassemias and sickle cell disorders, α thalassemias and structural hemoglobin variants are also common. Here we have reviewed the phenotypic and molecular diversity of hemoglobinopathies encountered at a referral center in western India over a period of 15 years. Materials and Methods Screening for hemoglobinopathies was done using HPLC and cellulose acetate electrophoresis. Molecular characterization was done using Covalent Reverse Dot Blot Hybridization (CRDB), Amplification Refractory Mutation System (ARMS), GAP PCR and direct DNA sequencing. Results The study includes 31 075 individuals who were referred for diagnosis of hemoglobinopathies and prenatal diagnosis. Of these 14 423 individuals showed various hemoglobin abnormalities. Beta genotyping in 5615 individuals showed the presence of 49 β thalassemia mutations. 143 β thalassemia heterozygotes had normal or borderline HbA2 levels. We identified three δ gene mutations (HbA2 Pellendri, HbA2 St.George, HbA2 Saurashtra) in β thalassemia heterozygotes leading to normal HbA2 levels. The commonest defects among the raised Hb F determinants were Gγ(Αγδβ)0 Indian inversion and the HPFH‐3 Indian deletion. A total of 312 individuals showed the presence of α thalassemia, of which 12.0% had a single α gene deletion (−α/αα). HbH disease was identified in 29 cases with 10 different genotypes. Alpha globin gene triplication was seen in 2.1% of β thalassemia heterozygotes with a thalassemia intermedia phenotype. Seven unusual α chain variants and eight uncommon β chain variants were identified. Conclusion The repertoire of molecular defects seen in the different globin genes will be valuable for management and control of these disorders both in India as well as in other countries where there is a huge influx of migrant populations from India.

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“…Genomic DNA was extracted from peripheral-blood lymphocytes via standard phenol-chloroform extraction. The genotypes of the enrolled patients were confirmed using Sanger sequencing (Panja et al, 2017). The resultant chromatograms were analyzed using Chromas Lite (version 2.1) software to screen for mutations.…”

Section: Methodsmentioning

confidence: 99%

“…HbE/β-thalassemia constitutes the majority of all severe β-thalassemia cases worldwide (Hossain et al, 2017), with the highest frequencies observed in India, Bangladesh, Indonesia, Malaysia, Southern China, and Thailand (Noor et al, 2020). Further, it is prevalent in north-eastern states (3- >50%) and in eastern India (3– 4%) (Mohanty et al, 2013; Panja et al, 2017; Algiraigri and Kassam, 2017). HbE/β-thalassemia results from co-inheritance of the mutant β-thalassemia allele from one parent and HbE (CD26, G>A; GAC→AAG, Glu→Lys) from the other.…”

Section: Introductionmentioning

confidence: 99%

Drug repurposing: Hydroxyurea therapy improves the transfusion-free interval in HbE/beta-thalassemia–major patients with Xmn1 polymorphism

Ghosh

Panja

Saha

et al. 2021

Preprint

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AimsHbE/β-thalassemia is the prevalent form of severe β-thalassemia in Asian countries. Hydroxyurea (HU) is the most common drug used for the management of sickle-cell anemia but not thalassemia. Here, we aimed to assess clinical HU response among patients with HbE/β-thalassemia with respect to Xmn1 γGglobin polymorphism and elucidate the association between this polymorphism and HU response efficacy.MethodsWe enrolled 49 transfusion-dependent patients with HbE/β-thalassemia. Fetal hemoglobin level was measured using High-performance liquid chromatography (HPLC) and complete blood count was determined pre- and post-HU therapy. Polymerase chain reaction–Restriction fragment length polymorphism (PCR-RFLP) was performed for genotyping Xmn1 γGglobin polymorphism.ResultsA total of 30 (61.22%) patients were found to be responders, whereas the remaining 19 (38.78%) were non-responders. We found 33 patients with heterozygous (C/T) and three with homozygous mutant (T/T) genotype status. We obtained a statistically significant correlation (p < 0.001) between Xmn1 polymorphism and transfusion-free interval. Patients with Xmn1 polymorphism were found to be good responders for HU therapy and showed increased hemoglobin levels.ConclusionsOur findings indicate that HU is a potential drug candidate for thalassemia management, particularly HbE/β-thalassemia. The results hold implications in repurposing HU as an effective and efficient therapy for HbE/β-thalassemia.

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Cross-Sectional Study for the Detection of Mutations in the Beta-Globin Gene Among Patients with Hemoglobinopathies in the Bengali Population

Abstract: The present study is the first attempt to screen for β-thalassemia-causing mutations by direct sequencing in different districts of West Bengal. The information obtained from the present study may be helpful for thalassemia management and prenatal mutation detection.

Cited by 10 publications

References 29 publications

Molecular analysis of α-thalassemia and β-thalassemia in Quanzhou region Southeast China

Molecular analysis of α-thalassemia and β-thalassemia in Quanzhou region Southeast China

The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center

Drug repurposing: Hydroxyurea therapy improves the transfusion-free interval in HbE/beta-thalassemia–major patients with Xmn1 polymorphism

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