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

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

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Chemical Precipitation
  • Genetic Variation*
  • Globins / chemistry
  • Globins / genetics
  • Hemoglobins, Abnormal / chemistry
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Protein Binding
  • alpha-Thalassemia / genetics*

Substances

  • Hemoglobins, Abnormal
  • Globins