Alpha-haemoglobin stabilising protein is a quantitative trait gene that modifies the phenotype of beta-thalassaemia.

Journal article

It has been suggested that altered levels or function of alpha-haemoglobin stabilising protein (AHSP), an erythroid-specific protein that binds specifically to free alpha-(haemo)globin, might account for some of the clinical variability in beta-thalassaemia. To assess the variation of AHSP expression, mRNA levels in circulating reticulocytes of 103 healthy individuals were measured by quantitative reverse transcription-polymerase chain reaction. AHSP expression varied up to threefold, and did...

Expand abstract

Authors: Lai, M; Jiang, J; Silver, N; Best, S; Menzel, S

• Publication status: Published
• Journal: British journal of haematology
• Volume: 133
• Issue: 6
• Pages: 675-682
• Publication date: 2006-06-01
• DOI: 10.1111/j.1365-2141.2006.06075.x
• EISSN: 1365-2141
• ISSN: 0007-1048
• Language: English
• Keywords: Adult; Haplotypes; Globins; Reverse Transcriptase Polymerase Chain Reaction; Reticulocytes; Polymorphism, Single Nucleotide; Gene Expression; Molecular Chaperones; Female; Middle Aged; Blood Proteins; RNA, Messenger; beta-Thalassemia; Humans; Genotype; Cells, Cultured; Quantitative Trait Loci; Genes, Reporter; Phenotype; Male