[Beta(o)/beta(o) thalassemia with a mild phenotype]

Ann Biol Clin (Paris). 2006 Jul-Aug;64(4):341-5.
[Article in French]

Abstract

We report the case of a 30 years old patient of Algerian origin, presenting a beta-thalassemia major with a phenotype of intermediate severity. Its genotype is beta(o)/beta(o), leading to a complete absence of beta-globin synthesis. This genotype is usually responsible for major clinical complications and a severe anaemia requiring regular transfusions. However, the patient presents with a mild form of the disease and a moderate relatively well tolerated anaemia. This phenotype was found related to a high level of synthesis of foetal haemoglobin, dependent most probably on an homozygous state for the polymorphism (XmnI -158, C>T) in the promoter of the Ggamma gene. This observation shows that it is important to keep in mind that beta-thalassemia major may have a mild or intermediate phenotype because of polymorphisms of the beta locus.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adult
  • Blood Cell Count
  • Blood Transfusion
  • Fetal Hemoglobin / genetics
  • Globins / deficiency*
  • Humans
  • Male
  • Phenotype
  • Polymorphism, Genetic
  • beta-Thalassemia / diagnosis
  • beta-Thalassemia / genetics*
  • beta-Thalassemia / therapy

Substances

  • Globins
  • Fetal Hemoglobin