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Hemoglobin. 2008;32(4):327-49. doi: 10.1080/03630260802173833.

Unstable and thalassemic alpha chain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia.

Author information

  • 1INSERM U841, Créteil, France. henri.wajcman@inserm.fr

Abstract

We report an update of the alpha-globin gene point mutations resulting in structural modification associated with an alpha-thalassemia (alpha-thal) phenotype. These variants, barely symptomatic in the heterozygous state, are either unstable due to folding defects and/or defects in binding to alpha-hemoglobin stabilizing protein (AHSP). This is predicted to result in precipitation of the unstable alpha chains or Hb variant, a concomitant decrease in the overall quantity of normal alpha-globin in the red cells and a potential degree of anemia and possibly, hemolysis. Genotype/phenotype correlation and potential genetic risk in combination with common or less common alpha-thal defects are discussed.

PMID:
18654884
DOI:
10.1080/03630260802173833
[PubMed - indexed for MEDLINE]
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