Identification of rare and novel deletions that cause (<b>δβ</b>)<sup>0</sup>‐thalassaemia and hereditary persistence of foetal haemoglobin in <scp>I</scp>ndian population

Mayuranathan, Thiyagaraj; Rayabaram, Janakiram; Das, Reena; Arora, Neeraj; Edison, Eunice Sindhuvi; Chandy, Mammen; Srivastava, Alok; Velayudhan, Shaji R

doi:10.1111/ejh.12276

Cited by 11 publications

(9 citation statements)

References 26 publications

(32 reference statements)

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“…Mutations in KLF1 can result in significantly boosted Hb F levels in normal individuals (Gallienne, Dréau, Schuh, Old, & Henderson, ). And some polymorphisms in BCL11A can lead to higher Hb F levels (Bauer et al, ); and (c) a high selection criteria such as Hb F ≥10.0% may be adopted to avoid false positives for deletional HPFH/δβ‐thalassemia, as suggested by a previous report (Mayuranathan et al, ). In our study, all confirmed deletional HPFH/δβ‐thalassemia samples had Hb F values higher than 15.0%.…”

Section: Discussionmentioning

confidence: 99%

Analysis of deletional hereditary persistence of fetal hemoglobin/δβ‐thalassemia and δ‐globin gene mutations in Southerwestern China

Zhang

Yang

et al. 2019

Molec Gen & Gen Med

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Background Deletional hereditary persistence of fetal hemoglobin (HPFH)/δβ‐thalassemia and δ‐thalassemia are rare inherited disorders which may complicate the diagnosis of β‐thalassemia. The aim of this study was to reveal the frequency of these two disorders in Southwestern China. Methods A total of 33,596 subjects were enrolled for deletional HPFH/δβ‐thalassemia, and positive individuals with high fetal hemoglobin (Hb F) level were diagnosed by multiplex ligation‐dependent probe amplification (MLPA). A total of 17,834 subjects were analyzed for mutations in the δ‐globin gene. Positive samples with low Hb A2 levels were confirmed by δ‐globin gene sequencing. Furthermore, the pathogenicity and construction of a selected δ‐globin mutation were analyzed. Results A total of 92 suspected cases with Hb F ≥5.0% were further characterized by MLPA. Eight different deletional HPFH/δβ‐thalassemia were observed at a frequency of 0.024%. In addition, 195 cases suspected to have a δ‐globin gene mutation (Hb A2 ≤2.0%) were characterized by molecular analysis. δ‐Globin gene mutation was found at a frequency of 0.49% in Yunnan. The pathogenicity and construction for a selected δ‐globin mutation was predicted. Conclusion Screening of these two disorders was analyzed in Southwestern China, which could define the molecular basis of these conditions in this population.

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Section: Discussionmentioning

confidence: 99%

Analysis of deletional hereditary persistence of fetal hemoglobin/δβ‐thalassemia and δ‐globin gene mutations in Southerwestern China

Zhang

Yang

et al. 2019

Molec Gen & Gen Med

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“…Two types of the determinants for δβ‐thal or HPFH, namely, the deletional and nondeletional types, have been classified on the basis of extensive molecular studies . (δβ) 0 ‐thal and HPFH are caused by large deletions in the β‐globin cluster involving δ‐ and β‐globin genes, with or without A γ‐globin genes . These mutations are characterized by high fetal haemoglobin (Hb F) levels in adult.…”

Section: Introductionmentioning

confidence: 99%

The prevalence and molecular characterization of (δβ)⁰‐thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population

He¹,

Wei²,

Chen³

et al. 2017

Clinical Laboratory Analysis

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ObjectiveTo reveal the prevalence and molecular characterization of (δβ)0‐thalassemia [(δβ)0‐thal] and hereditary persistence of fetal hemoglobin (HPFH) in the Chinese Zhuang population.MethodsA total of 105 subjects with fetal hemoglobin (Hb F) level ≥5% from 14 204 unrelated ones were selected for the study. Multiplex ligation dependent probe amplification was firstly used to analyze dosage changes of the β‐globin gene cluster for associated with (δβ)0‐thal and HPFH mutations. The gap polymerase chain reaction was then performed to identify the deletions using the respective flanking primers. Hematologic data were recorded and correlated with the molecular findings.ResultsTwenty‐one (0.15%) subjects were diagnosed with Chinese Gγ(Aγδβ)0‐thal. Nine (0.06%) were diagnosed with Southeast Asia HPFH (SEA‐HPFH) deletion. Seventy‐five (0.53%) cases remained uncharacterized. Three genotypes for Chinese Gγ(Aγδβ)0‐thal and SEA‐HPFH deletion were identified, respectively. The genotype‐phenotype relationships were discussed.ConclusionOur study for the first time demonstrated that (δβ)0 and HPFH were not rare events, and molecular characterized Gγ(Aγδβ)0‐thal and HFPH mutations in the Chinese Zhuang population. The findings in our study will be useful in genetic counseling and prenatal diagnostic service of β‐thalassemia in this populations.

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“…δβ thalassemia, a form of beta-thalassemia is characterized by decreased or absent synthesis of the δ and β globin chains with a compensatory increase in expression of fetal γ chain synthesis, resulting in the augmented production of HbF in adult life. δβ thalassemia and its several types have been characterized based on various molecular defects [15]. As homozyzotes have no δ or β genes, they cannot synthesize HbA and HbA2 and have very high HbF, almost approaching 100% as compared to heterozygotes which tend to have a modest elevation of HbF (5-20%) with microcytic hypochromic red cell indices [16].…”

Section: Discussionmentioning

confidence: 99%

Contrasting co-inheritance of alpha and beta mutations in delta beta thalassemia and hereditary persistence of fetal hemoglobin: a study from India

et al. 2018

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We found 5/18(27.β) δβ-thalassemia cases with co-inherited alpha 3.7 deletion and 3/18 (16β) cases with IVS 1-5(G-C) mutation. Patients showed features of thalassemia intermedia phenotype among which those with co-inherited IVS 1-5(G-C) mutation showed severe phenotype as compared to those with co-inherited alpha 3.7 deletion. So, we highlight importance of genotyping of patients with δβ thalassemia or HPFH and coinheritance with inherited factors which plays crucial role in clinicopathological profile and setting up prenatal diagnostic protocol.

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Identification of rare and novel deletions that cause (δβ)⁰‐thalassaemia and hereditary persistence of foetal haemoglobin in Indian population

Cited by 11 publications

References 26 publications

Analysis of deletional hereditary persistence of fetal hemoglobin/δβ‐thalassemia and δ‐globin gene mutations in Southerwestern China

Analysis of deletional hereditary persistence of fetal hemoglobin/δβ‐thalassemia and δ‐globin gene mutations in Southerwestern China

The prevalence and molecular characterization of (δβ)⁰‐thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population

Contrasting co-inheritance of alpha and beta mutations in delta beta thalassemia and hereditary persistence of fetal hemoglobin: a study from India

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Identification of rare and novel deletions that cause (δβ)0‐thalassaemia and hereditary persistence of foetal haemoglobin in Indian population

Cited by 11 publications

References 26 publications

Analysis of deletional hereditary persistence of fetal hemoglobin/δβ‐thalassemia and δ‐globin gene mutations in Southerwestern China

Analysis of deletional hereditary persistence of fetal hemoglobin/δβ‐thalassemia and δ‐globin gene mutations in Southerwestern China

The prevalence and molecular characterization of (δβ)0‐thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population

Contrasting co-inheritance of alpha and beta mutations in delta beta thalassemia and hereditary persistence of fetal hemoglobin: a study from India

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Identification of rare and novel deletions that cause (δβ)⁰‐thalassaemia and hereditary persistence of foetal haemoglobin in Indian population

The prevalence and molecular characterization of (δβ)⁰‐thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population