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Molecular analysis of a large novel deletion causing α + -thalassemia.
- Source :
-
BMC medical genetics [BMC Med Genet] 2019 May 06; Vol. 20 (1), pp. 74. Date of Electronic Publication: 2019 May 06. - Publication Year :
- 2019
-
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.<br />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.<br />Results: The proband of the family belonged to Southeast Asian type (-- <superscript>SEA</superscript> ) thalassaemia. None of the known mutations associated with α-thalassaemia were detected in this family's genetics, whereas a novel 6.9 kb deletion (16p13.3 g.29,785-36,746) covering the α2 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 α-thalassemia: -α <superscript>6.9</superscript> /-- <superscript>SEA</superscript> .<br />Conclusions: A novel α-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 α-thalassaemia, paving the way for improved disease diagnosis and management.
Details
- Language :
- English
- ISSN :
- 1471-2350
- Volume :
- 20
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- BMC medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 31060505
- Full Text :
- https://doi.org/10.1186/s12881-019-0797-8