High frequency of deletional alpha-thalassemia in beta-thalassemia trait: implications for genetic counseling

Am J Hematol. 2004 Jul;76(3):297-9. doi: 10.1002/ajh.20083.

Abstract

Thalassemias are a group of genetic hemolytic disorders with varying phenotypes. In this study, the frequency of alpha globin gene deletions was studied in the beta-thalassemia trait, the mildest form of the disorder. Eleven out of 33 (33%) individuals were positive for alpha(-3.7 kb) deletions. None of the subjects was positive for the Southeast Asian deletion. Such a high frequency for alpha deletions has not been reported earlier in thalassemia minor. Hematological parameters are compared, and implications of this finding for genetic counseling are discussed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Female
  • Fetal Hemoglobin / analysis
  • Gene Deletion*
  • Gene Frequency
  • Genetic Counseling*
  • Globins / genetics*
  • Hemoglobin A2 / analysis
  • Heterozygote
  • Humans
  • Male
  • alpha-Thalassemia / genetics*
  • beta-Thalassemia / genetics*

Substances

  • Globins
  • Hemoglobin A2
  • Fetal Hemoglobin