HbH disease associated with the (--MED) deletion in a Brazilian black woman

Acta Haematol. 1992;87(3):145-7. doi: 10.1159/000204741.

Abstract

Clinical, laboratory features and restriction enzyme DNA analysis are reported for a black Brazilian woman with HbH disease. The patient presented a thalassemic blood picture with HbH and Hb Bart's. Gene mapping demonstrated the compound heterozygous state for the --MED and -alpha 3.7 deletions.

Publication types

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

MeSH terms

  • Adult
  • Black People / genetics*
  • Brazil
  • Chromosome Deletion
  • Chromosome Mapping
  • DNA / analysis
  • Female
  • Globins / genetics
  • Heterozygote
  • Humans
  • Restriction Mapping
  • Thalassemia / genetics*

Substances

  • Globins
  • DNA