Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases.
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.
Department of Haematology, All India Institute of Medical Sciences, New Delhi, India.
Deepti
D
Mutreja
Department of Haematology, All India Institute of Medical Sciences, New Delhi, India.
Seema
S
Tyagi
Department of Haematology, All India Institute of Medical Sciences, New Delhi, India.
Narender
N
Tejwani
Department of Haematology, All India Institute of Medical Sciences, New Delhi, India.
Jasmita
J
Dass
Double heterozygous; hemoglobin Q India; hemoglobin Q Punjab; high performance liquid chromatography