| Literature DB >> 25065854 |
J Francis Borgio1, S AbdulAzeez2, Awatif N Al-Nafie3, Zaki A Naserullah4, Sana Al-Jarrash4, Mohammed S Al-Madan5, Fahad Al-Muhanna6, Martin H Steinberg7, Amein K Al-Ali2.
Abstract
Thalassemia and sickle cell disease are the most prevalent hemoglobin disorders in the populations of Dammam, Al-Qatif and Al-Ahsa regions in the Eastern Province of Saudi Arabia where our study cases originated. Increased HbF can modify these disorders. Direct sequencing of the HBA2 and HBA1 genes from 157 Saudi subjects revealed a new HBA2 gene conversion in cis or trans in 5.7% of the total. We refer to this new HBA2 gene convert as an α12 (HBA12) allele due to its combination of α1 (HBA1) and α2 (HBA2) sequences. Three genotypes, homozygous (-α12(3.7)/α1α12), heterozygous (α1α2/α1α12) and hemizygous (α1- (4.2)/α1α12) for the α12 allele were observed. The majority of individuals who were positive for the α12 allele had a reduction in the percentage of HbA2. Further studies are necessary to evaluate the possible effect of these changes on globin gene expression.Entities:
Keywords: Gene conversion; HbA(2); Thalassemia; α-Globin gene; α12 allele
Mesh：
Substances：
Year: 2014 PMID： 25065854 DOI： 10.1016/j.bcmd.2014.07.001
Source DB: PubMed Journal: Blood Cells Mol Dis ISSN： 1079-9796 Impact factor: 3.039