Related Experiment Video
Updated: May 3, 2026

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases
Deepti Mutreja1, Seema Tyagi1, Narender Tejwani1
1Department of Haematology, All India Institute of Medical Sciences, New Delhi, India.
Abstract:
Cation exchange high performance liquid chromatography (CE HPLC) provides an excellent tool for accurate and reliable diagnosis of various hemoglobin (Hb) disorders. HbQ India is a rare alpha chain variant that usually presents in the heterozygous state. Its presence in double heterozygous state with HbD Punjab is extremely rare. The double heterozygosity for α and β chain variants leads to formation of abnormal heterodimer hybrids, which can lead to diagnostic dilemmas. We report two rare cases of double heterozygous HbQ India/HbD Punjab where the hybrid Hb was seen to elute at retention time similar to HbC on CE HPLC. The first case had unconjugated hyperbilirubinemia at presentation; while, the second case was asymptomatic.
More Related Videos
Related Concept Videos
Multiple Allele Traits
Hemoglobin
When all four heme groups are bound to oxygen, the resulting molecule is called oxyhemoglobin. As a result, arterial blood...
Genetic Lingo
Blood Types
ABO blood group
ABO antigens are glycoproteins encoded by genes present on...
Gene Families
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
Rh Blood Group

