Coinheritance of the different copy numbers of alpha-globin gene modifies severity of beta-thalassemia/Hb E disease

Ann Hematol. 2008 May;87(5):375-9. doi: 10.1007/s00277-007-0407-2. Epub 2007 Nov 20.

Abstract

beta-Thalassemia/Hb E patients show a range of clinical severities, from nearly asymptomatic to transfusion-dependent thalassemia major. This study investigated the clinical heterogeneity and hematologic parameters obtained in the large cohort of 925 Thai beta 0-thalassemia/Hb E patients. Coinheritance of alpha-thalassemia with beta 0-thalassemia/Hb E produces a milder clinical phenotype in contrast to an interaction of alpha-globin gene triplication in severe thalassemia. The mean steady-state Hb was also higher, whereas the mean corpuscular volume and the percentage of Hb F were markedly lower in the former group. This finding demonstrates that the genetic combination leading to the more/less degree of alpha- to non-alpha-globin chains imbalance is indeed the cause of the severe/mild thalassemia phenotype.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • Cohort Studies
  • Female
  • Gene Expression Regulation / genetics*
  • Genotype
  • Globins / genetics*
  • Globins / metabolism
  • Hemoglobin E / metabolism*
  • Humans
  • Inheritance Patterns
  • Male
  • Middle Aged
  • Phenotype
  • alpha-Thalassemia / genetics
  • alpha-Thalassemia / physiopathology
  • beta-Thalassemia / classification
  • beta-Thalassemia / genetics*
  • beta-Thalassemia / physiopathology*

Substances

  • Globins
  • Hemoglobin E