Sickle cell/β0-thalassemia associated with the 1393 bp deletion can be associated with a severe phenotype

Hemoglobin. 2011;35(4):406-10. doi: 10.3109/03630269.2011.592555.

Abstract

In patients who have inherited both the sickle cell gene and the β-thalassemia (β-thal) gene, the nature of the β-thal mutation will impact on the disease phenotype. The β-thal mutation caused by the 1393 bp deletion has previously been described as having a mild clinical phenotype when inherited with the sickle gene. We describe three members of a family with this deletion who present with a more severe phenotype. The severity cannot be explained by their Hb F levels, or the XmnI-HBG2 polymorphism. This deletion cannot be presumed to be associated with a mild disease phenotype and we recommend that patients with Hb S/β(0)-thal are screened for this deletion.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Anemia, Sickle Cell / complications
  • Anemia, Sickle Cell / genetics*
  • DNA Mutational Analysis / methods
  • Family Health
  • Female
  • Hemoglobin, Sickle / genetics*
  • Heterozygote
  • Humans
  • Male
  • Phenotype
  • Sequence Deletion*
  • beta-Globins / genetics*
  • beta-Thalassemia / complications
  • beta-Thalassemia / genetics*

Substances

  • Hemoglobin, Sickle
  • beta-Globins