Molecular characterisation of Hb Akron [β52 (D3) Asp→Val] combined with thalassaemia in a Chinese family
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Published:2022-09-14
Issue:
Volume:
Page:jclinpath-2021-208133
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ISSN:0021-9746
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Container-title:Journal of Clinical Pathology
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language:en
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Short-container-title:J Clin Pathol
Author:
He Sheng,
Wang Bolian,
Yi Shang,
Huang Zhenyan,
Liang Lifang,
Peng Zhenren,
Song Pengshu,
Chen Biyan,
Chen Faqin,
Wei HongweiORCID
Abstract
AimsHb Akron (HBB:c.158A>T) is a rare β-chain variant and many characteristics about its clinical features still remain unclear. In this study, we aimed to explore the molecular and haematological characterisations of previously undescribed states for Hb Akron associated with different forms of thalassaemia.MethodsHaematology and genetic analysis were performed in 9 members from a Chinese Zhuang ethnic family.ResultsHb Akron in various combinations with β0-thalassaemia and α0-thalassaemia were identified and characterised. Simple heterozygote for Hb Akron is asymptomatic, while the compound heterozygotes of Hb Akron associated with the β0-thalassaemia mutation generates a more severe haematological phenotype than Hb Akron or β0-thalassaemia mutation seen in isolation. The specific peak of Hb Akron appears at Zone D (195–225 s) in the state of heterozygote and compound heterozygote on haemoglobin capillary electrophoresis device, and the reduction of Hb Akron level in heterozygotes is proportional to the degree of α-globin gene deficiency.ConclusionsWe have for the first time described the genetic and haematological characteristics of Hb Akron combined with different thalassaemia mutations, which will provide useful information for genetic counselling and prenatal diagnostic service of this mutation in a population with high prevalence of thalassaemia.
Funder
Health Department of Guangxi Province
Natural Science Foundation of China
Natural Science Foundation of Guangxi
Subject
General Medicine,Pathology and Forensic Medicine
Reference25 articles.
1. Hemoglobinopathies;Vichinsky;Curr Mol Med,2008
2. The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study
3. Molecular epidemiology, pathogenicity, and structural analysis of haemoglobin variants in the Yunnan Province population of southwestern China;Zhang;Sci Rep,2019
4. Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations;Giardine;Nucleic Acids Res,2021
5. Hb-OSU Christiansborg: a rare abnormal hemoglobin observed in two independent families in the Netherlands;Giordano;Ned Tijdschr Klin Chem,1999