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

ABSTRACT:

Background

α-thalassaemia is an inherited blood disorder caused by mutations in the α-globin gene cluster. Recognizing the pathogenic α-globin gene mutations associated with α-Thalassemia is of significant importance to thalassaemia's diagnosis and management.

Methods

A family with α-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 α-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 mutat

SUBMITTER: Zhuang J 

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

REPOSITORIES: biostudies-literature