title: Analysis of alpha-hemoglobin-stabilizing protein (AHSP) gene as a genetic modifier to the phenotype of beta-thalassemia in Southern China.
abstract: alpha-Hemoglobin-stabilizing protein (AHSP) is a molecular chaperon binding specifically to free alpha-globin. It is considered to be a potential modifier of beta-thalassemia. In order to find out if AHSP affects the phenotype of beta-thalassemia carriers in southern China, we analyzed AHSP gene in 365 beta-thalassemia subjects which was identified in 5789 consecutive blood samples from southern China. 8 SNPs were detected including two rare SNPs which were reported by us for the first time and two novel missense mutations. One missense mutation, A to T transversion at gene position 12750, substituting aspartic acid for valine at amino acid position 29 (AHSP D29V), was detected in three beta-thalassemia carriers respectively. The other AHSP missense mutation, 12831 A>T, which substitutes valine for glycine at amino acid position 56 (AHSP V56G), was identified in only one sample. Neither of the two missense mutations leads to obvious phenotypic change to the beta-thalassemia carries. A genetic association study between AHSP gene and the phenotype of beta-thalassemia subjects was conducted simultaneously. No significant association has been found between specific AHSP alleles or haplotypes and the disease severity of beta-thalassemia. Our study suggested that AHSP is not a significant genetic modifier of beta-thalassemia in southern China.
authors.affiliation: Department of Medical Genetics, Southern Medical University, Guangzhou, Guangdong, PR China.
authors.forename: Zhipeng
authors.initials: Z
authors.lastname: Wang
authors.forename: Wenfang
authors.initials: W
authors.lastname: Yu
authors.forename: Ying
authors.initials: Y
authors.lastname: Li
authors.forename: Xuan
authors.initials: X
authors.lastname: Shang
authors.forename: Xinhua
authors.initials: X
authors.lastname: Zhang
authors.forename: Fu
authors.initials: F
authors.lastname: Xiong
authors.forename: Xiangmin
authors.initials: X
authors.lastname: Xu
mesh_terms: D001798:Blood Proteins / Q000235:genetics*; D002681:China / Q000453:epidemiology; D055106:Genome-Wide Association Study; D006239:Haplotypes; D006801:Humans; D018832:Molecular Chaperones / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D017086:beta-Thalassemia / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*
chemical_list: C468768:AHSP protein, human; D001798:Blood Proteins; D018832:Molecular Chaperones