Abstract

Background: Haptoglobin polymorphism is associated with the prevalence of infections, autoimmune diseases, cardiovascular diseases, and other disorders. Congenital haptoglobin deficiency is associated with anaphylactic transfusion reactions in anhaptoglobinaemic patients with antihaptoglobin antibody.

Aims: To investigate haptoglobin genotypic distribution (including the Hp⁰ allele) and associated serum haptoglobin concentrations in Koreans.

Methods: Five hundred and nine healthy Korean adults were randomly selected. Two methods were used: haptoglobin genotyping based on a polymerase chain reaction (PCR) system that exploited the structural difference of the Hp¹ and Hp² alleles, and another PCR method that detected haptoglobin gene deletion by amplification of the junctional region of the Hp⁰ allele. Serum haptoglobin concentrations were measured by nephelometry.

Results: The haptoglobin genotypes of 509 subjects were as follows: Hp¹Hp¹, 7.1%; Hp²Hp¹, 37.7%; Hp²Hp², 49.3%; Hp⁰Hp¹, 2.2%; Hp⁰Hp², 3.5%; Hp⁰Hp⁰, 0.2%. The gene frequency of Hp⁰ in Koreans was calculated to be 0.031. Significant differences were seen among the concentrations of each haptoglobin genotype (Kruskal-Wallis test). Hp⁰Hp², but not Hp⁰Hp¹, was associated with hypohaptoglobinaemia.

Conclusions: PCR methods for differentiating between haptoglobin genotypes, including the Hp⁰ allele, may be useful in a broad spectrum of basic studies and clinical examinations.