Background: We investigated the genotypic distribution of Hpdel 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 Hpdel allele was determined from genomic DNA by an Hpdel-specific polymerase chain reaction (PCR) method. The plasma concentration of Hp was also determined.
Results: The frequency of the Hpdel 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 Hpdel homozygosity was estimated to be ∼0.85 in 1000. Fifty-seven subjects were reclassified from homozygous Hp1 or Hp2 to Hp1/Hpdel or Hp2/Hpdel genotypes. The Hpdel allele is not associated with prevalence, severity or stage of any cancer.
Conclusions: Congenital Hp deficiency caused by Hpdel homozygosity is a condition present in Taiwan with a relatively high frequency. However, the Hpdel variant does not play a role in cancer.