Clinical and hematological presentation among Indian patients with common hemoglobin variants

•Majority of patients with HbSDPunjab disease had a severe clinical presentation.•HbSDPunjab disease may be misdiagnosed as sickle cell anemia using Hb electrophoresis.•Early diagnosis and comprehensive care of HbSDPunjab disease babies is important.•Prenatal diagnosis for HbSDPunjab disease is an option for at-risk couples.•HbSE disease had variable severity while HbDPunjabE disease was mild.

BackgroundCo-inheritance of structural hemoglobin variants like HbS, HbDPunjab and HbE can lead to a variable clinical presentation and only few cases have been described so far in the Indian population.MethodsWe present the varied clinical and hematological presentation of 22 cases (HbSDPunjab disease-15, HbSE disease-4, HbDPunjabE disease-3) referred to us for diagnosis.ResultsTwo of the 15 HbSDPunjab disease patients had moderate crisis, one presented with mild hemolytic anemia; however, the other 12 patients had a severe clinical presentation with frequent blood transfusion requirements, vaso occlusive crisis, avascular necrosis of the femur and febrile illness. The 4 HbSE disease patients had a mild to moderate presentation. Two of the 3 HbDPunjabE patients were asymptomatic with one patient's sibling having a mild presentation. The hemoglobin levels of the HbSDPunjab disease patients ranged from 2.3 to 8.5 g/dl and MCV from 76.3 to 111.6 fl. The hemoglobin levels of the HbDPunjabE and HbSE patients ranged from 10.8 to 11.9 and 9.8 to 10.0 g/dl whereas MCV ranged from 67.1 to 78.2 and 74.5 to 76.0 fl respectively.ConclusionsHbSDPunjab disease patients should be identified during newborn screening programmes and managed in a way similar to sickle cell disease. Couple at risk of having HbSDPunjab disease children may be given the option of prenatal diagnosis in subsequent pregnancies.