Double Heterozygous Hemoglobin Q India/ Hemoglobin D Punjab Hemoglobinopathy: Report of Two Rare Cases

Abstract

Cation Exchange High Performance Liquid Chromatography (CE HPLC) provides an excellent tool for accurate and reliable diagnosis of various hemoglobin (Hb) disorders. Hb Q India is a rare alpha chain variant that usually presents in the heterozygous state. Its presence in compound heterozygous state with Hb D Punjab is extremely rare. The compound heterozygosity for ? and ? chain variants leads to formation of abnormal heterodimer hybrids, which can lead to diagnostic dilemmas. We report two rare cases of double heterozygous Hb Q India/ Hb D Punjab where the hybrid Hb was seen to elute at retention time similar to Hb C on CE HPLC. The first case had unconjugated hyperbilirubinemia at presentation, while, the second case was asymptomatic.

Keywords

• Thalassemic syndromes
• Hb Q India
• Hb D Punjab
• compound heterozygousity
• HPLC