Molecular identification of hereditary persistence of fetal hemoglobin type 2 (HPFH type 2) in patients from Brazil

Ann Hematol. 1995 Mar;70(3):159-61. doi: 10.1007/BF01682037.

Abstract

The HPFH deletion type 2 was first described in a patient from Ghana and is characterized by a large deletion of approximately 105 kb extension. We report here the results obtained in studying a black Brazilian patient who presented an association of beta-thalassemia and HPFH type 2, using a PCR strategy for detection of the breakpoint region. This procedure allows a rapid molecular identification of this condition and is a reliable procedure for screening patients with a hematological picture of HPFH deletion types.

Publication types

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

MeSH terms

  • Adult
  • Brazil / epidemiology
  • Child
  • Fetal Hemoglobin / analysis
  • Fetal Hemoglobin / genetics
  • Gene Deletion
  • Globins / genetics
  • Hemoglobinopathies / epidemiology
  • Hemoglobinopathies / genetics*
  • Humans
  • Male
  • Point Mutation
  • Promoter Regions, Genetic
  • beta-Thalassemia / epidemiology
  • beta-Thalassemia / genetics*

Substances

  • Globins
  • Fetal Hemoglobin