Population analysis of the alpha hemoglobin stabilizing protein (AHSP) gene identifies sequence variants that alter expression and function.

Journal article

Alpha-hemoglobin stabilizing protein (AHSP) is a potential modifier of beta-thalassemia by virtue of its ability to detoxify excess free alpha-globin. However, examination of patients with beta-thalassemia from a few geographic regions failed to identify obvious AHSP mutations. We extended these studies by analyzing AHSP gene sequences in 366 anonymous individuals from five different areas of the world. We detected numerous polymorphisms comprising 18 different haplotypes and two rare missens...

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Authors: dos Santos, C; Zhou, S; Secolin, R; Wang, X; Cunha, A

• Publication status: Published
• Journal: American journal of hematology
• Volume: 83
• Issue: 2
• Pages: 103-108
• Publication date: 2008-02-01
• DOI: 10.1002/ajh.21041
• EISSN: 1096-8652
• ISSN: 0361-8609
• Language: English
• Keywords: Genetic Variation; Genotype; Molecular Chaperones; Blood Proteins; Promoter Regions, Genetic; Amino Acid Substitution; Humans; Gene Expression Regulation; Phylogeny; beta-Thalassemia; Polymorphism, Single Nucleotide; DNA; Genome, Human; Thalassemia