Haptoglobin gene polymorphisms in sickle cell disease patients with different βS-globin gene haplotypes

Med Princ Pract. 2010;19(6):447-50. doi: 10.1159/000320302. Epub 2010 Sep 28.

Abstract

Objective: To investigate the prevalence of haptoglobin (Hp) gene alleles in Kuwaiti sickle cell disease (SCD) patients, who generally have a mild phenotype, and compare the pattern to Nigerian SCD patients whose SCD phenotype is more severe.

Subjects and methods: Hp genotyping was carried out in a group of 82 and 54 SCD patients from Kuwait and Nigeria, respectively, and appropriate Hb AA controls. The Hp genotyping was done using a PCR technique followed by agarose gel electrophoresis.

Results: The frequency of the Hp-2 allele was 73.8% among Kuwaiti SCD patients, while the Hp-1 allele predominated among Nigerian patients (60.7%). However, the differences were not significant (p > 0.05) when the allele distributions were compared between Kuwaiti SCD and their AA counterparts or between Nigerian SCD and their AA controls. There was no association of Hp-2 allele with frequent vaso-occlusive crisis among the Kuwaiti SCD patients.

Conclusion: The distribution of Hp alleles appears to follow ethnic and geographical trends. Their role in the pathophysiology of pain crisis is not clear.

MeSH terms

  • Anemia, Sickle Cell / ethnology
  • Anemia, Sickle Cell / genetics*
  • Electrophoresis, Agar Gel
  • Gene Frequency
  • Haplotypes
  • Haptoglobins / genetics*
  • Humans
  • Kuwait / epidemiology
  • Nigeria / epidemiology
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • beta-Globins / genetics*

Substances

  • Haptoglobins
  • beta-Globins