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.