[The first case of thalassemia intermedia in Spain due to the interaction of 3 alpha genes with beta-thalassemia minor]

Rev Clin Esp. 1993 Apr;192(6):268-70.
[Article in Spanish]

Abstract

We have identified the case of a 9-months-old girl with heterozygotic thalassemia and triplication of alpha genes of globin (alpha alpha alpha 3.7). Molecular defect of thalassemia was a mutation without sense of 39 codon. Patient's phenotype was an intermediate thalassemia with moderate splenomegaly and marked unbalance on the globin chains. This is the first case of intermediate thalassemia, through this mechanism, described in Spain.

Publication types

  • Case Reports
  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Genes*
  • Hemoglobin A / genetics*
  • Heterozygote
  • Humans
  • Infant
  • Mutation
  • Spain
  • Thalassemia / etiology
  • Thalassemia / genetics*
  • beta-Thalassemia / genetics*

Substances

  • Hemoglobin A