Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases
A 26-year-old male of Indian Punjabi origin, resident of Delhi, presented with complaints of weakness, epigastric pain, and jaundice for 2 weeks. General physical examination revealed icterus. Systemic examination was unremarkable. Liver function tests revealed predominantly unconjugated hyperbilirubinemia (total bilirubin: 3.2 mg/dL, unconjugated: 2.5 mg/dL). Transaminases and serology for viral hepatitis were normal. Molecular studies for Gilbert's syndrome were negative. In view of the unconjugated hyperbilirubinemia, a complete hemolytic work up was performed. Hb high performance liquid chromatorphy (HPLC) of proband performed on Bio-Rad variant; β thalassemia short program, showed four major peaks (retention time in minutes) which were identified as HbA (α2 β2) (2.30), HbD Punjab (α2 ββD Punjab) (4.11), HbQ India (ααQ India β2) (4.72), HbD Punjab/HbQ India (ααQ India ββD Punjab) (4.96) []. The variant α and β chain hybrid was seen to elute in the HbC window. The patient had normal Hb values with raised mean corpuscular hemoglobin concentration (MCHC) (Hb: 16.1 g/dL, mean corpuscular volume: 85.5 fL, mean corpuscular hemoglobin: 32.8 pg, MCHC: 38.3 g/dL, red cell count: 4.91 × 1012/L). The peripheral blood smear showed normocytic normochromic picture and reticulocyte count was 4%. Work up for other hemolytic anemia including glucose-6-phosphate dehydrogenase deficiency and osmotic fragility was normal. Agarose gel electrophoresis at alkaline pH showed bands in the A, S, and C positions []. This was interpreted as HbA in the A position, HbD Punjab in the S position, and HbD Punjab/HbQ India in the C position.