Detection of Hpdel in healthy individuals and cancer patients in Taiwan

Abstract

BACKGROUND: We investigated the genotypic distribution of Hp(del) in healthy subjects and cancer patients in Taiwan. METHODS: Blood samples were collected from 244 randomly selected healthy Taiwanese volunteers and 737 patients with various cancers. Samples were analyzed for the haptoglobin (Hp) gene, and the presence of the Hp(del) allele was determined from genomic DNA by an Hp(del)-specific polymerase chain reaction (PCR) method. The plasma concentration of Hp was also determined. RESULTS: The frequency of the Hp(del) allele was calculated to be 0.029, and was not different between the healthy subjects and patients with cancer. The prevalence of Hp deficiency caused by Hp(del) homozygosity was estimated to be approximately 0.85 in 1000. Fifty-seven subjects were reclassified from homozygous Hp(1) or Hp(2) to Hp(1)/Hp(del) or Hp(2)/Hp(del) genotypes. The Hp(del) allele is not associated with prevalence, severity or stage of any cancer. CONCLUSIONS: Congenital Hp deficiency caused by Hp(del) homozygosity is a condition present in Taiwan with a relatively high frequency. However, the Hp(del) variant does not play a role in cancer.