Effect of alpha-thalassemia and beta-globin gene cluster haplotypes on the hematological and clinical features of sickle-cell anemia in Brazil

Am J Hematol. 1996 Oct;53(2):72-6. doi: 10.1002/(SICI)1096-8652(199610)53:2<72::AID-AJH3>3.0.CO;2-0.

Abstract

To compare the features of sickle-cell anemia in Brazil with those in other locales, we studied the effects of the beta-globin-like gene cluster haplotype and alpha-thalassemia upon the clinical and hematological features in 85 patients. The distribution of haplotypes differed from that in the United States and Jamaica. The Central African Republic (CAR) haplotype predominated; 34% of patients were CAR haplotype homozygotes, 45% CAR/Benin homozygotes, and 11% Benin homozygotes. No Senegal haplotype chromosomes were observed. Alpha-thalassemia was present in 17.5% of patients. HbF levels were higher in Benin homozygotes, compared with the other two groups (P < 0.05). Nearly half the patients with a CAR haplotype had leg ulcers, compared to 12.5% of the Benin homozygote group; stroke did not occur in alpha-thalassemia carriers, but neither result was statistically significant. As in other studies, our results indicate that the CAR haplotype may be associated with more severe disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Anemia, Sickle Cell / blood
  • Anemia, Sickle Cell / complications
  • Anemia, Sickle Cell / genetics*
  • Brazil
  • Child
  • Child, Preschool
  • Female
  • Fetal Hemoglobin / analysis
  • Globins / genetics*
  • Haplotypes
  • Humans
  • Male
  • Middle Aged
  • Multigene Family*
  • alpha-Thalassemia / blood
  • alpha-Thalassemia / complications
  • alpha-Thalassemia / genetics*

Substances

  • Globins
  • Fetal Hemoglobin