Some atypical and rare sickle cell gene haplotypes in populations of Andhra Pradesh, India

Hum Biol. 1999 Jun;71(3):333-40.

Abstract

We have investigated the clinical, hematological, and molecular genetic characteristics of sickle cell anemia patients from 6 populations of Andhra Pradesh, South India. Of 72 sickle cell chromosomes (HBB*S) 60 belong to characteristic Arab-Indian haplotypes, 6 to variant Arab-Indian haplotypes, 1 to a Bantu haplotype, 2 to a Cameroon haplotype, and 3 to rare haplotypes. This is the first report of a Bantu haplotype in an Indian population. Some information on haplotype characteristics of normal chromosomes (HBB*A) is also presented. The average hemoglobin level was 7.3 g% and mean fetal hemoglobin (HbF) level was 12.6%. The higher HbF levels corroborate earlier observations in sickle cell homozygotes from India. Clinical investigations have revealed splenomegaly and painful crises as the most common features in these patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Anemia, Sickle Cell / ethnology*
  • Anemia, Sickle Cell / genetics*
  • Base Sequence
  • Child
  • Child, Preschool
  • Developing Countries
  • Female
  • Gene Expression
  • Genetics, Population*
  • Haplotypes / genetics*
  • Hemoglobins / analysis
  • Hemoglobins / genetics*
  • Humans
  • India / epidemiology
  • Male
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Population Surveillance
  • Rural Population
  • Sampling Studies
  • Saudi Arabia / ethnology
  • Senegal / ethnology
  • White People / genetics*

Substances

  • Hemoglobins