Molecular analysis of a large novel deletion causing ?+-thalassemia.

ABSTRACT: BACKGROUND:?-thalassaemia is an inherited blood disorder caused by mutations in the ?-globin gene cluster. Recognizing the pathogenic ?-globin gene mutations associated with ?-Thalassemia is of significant importance to thalassaemia's diagnosis and management. METHODS:A family with ?-thalassaemia from Fujian, China was recruited for this study. The phenotype was confirmed through haematological analysis. Commercially available Gap-PCR genotypic methods were employed to identify the known deletions causing ?-thalassemia. MLPA analysis was used to study the novel mutations; this was then confirmed through DNA sequencing and bioinformatics analysis. RESULTS:The proband of the family belonged to Southeast Asian type (--SEA) thalassaemia. None of the known mutations associated with ?-thalassaemia were detected in this family's genetics, whereas a novel 6.9 kb deletion (16p13.3 g.29,785-36,746) covering the ?2 gene on the globin gene cluster was identified with MLPA and confirmed through Sanger Sequencing. This data led us to propose a novel pathogenic deletion associated with ?-thalassemia: -?6.9 /--SEA. CONCLUSIONS:A novel ?-thalassaemia deletion was identified in members of a Chinese family and subsequently analyzed. This finding has helped broaden the spectrum of pathogenic mutations leading to the development of ?-thalassaemia, paving the way for improved disease diagnosis and management.

SUBMITTER: Zhuang J 

PROVIDER: S-EPMC6501318 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature