DOI: 10.36347/sjmcr.2023.v11i06.065

Pages: 1295-1298

Introduction: Among the inherited disorders of blood, haemoglobinopathy and thalassaemia constitute a major bulk of non-communicable genetic diseases in India. They cause a high degree of morbidity in affected individuals. Moderate to severe haemolytic anaemia among vulnerable segments of the society like infants and children, adolescent girls, pregnant women, etc. may result in many deaths in India. Hemoglobinopathies are a vast group of inherited disorders of hemoglobin production and function. Compound heterozygous HbSD-Punjab is an uncommon hemoglobinopathy encountered in Indians. In premarital screening, molecular testing is mostly inconvenient and diagnosis often relies on the abnormal hemoglobin analysis, family studies and epidemiological facts. We present the clinical and laboratory characteristics of hemoglobin D-Punjab with sickle cell disease found on premarital screening. Case Report: Blood sample of a 22 year old patient for high-performance liquid chromatography was received. A complete blood count (CBC) showed mild anemia with Hb of 8.3 g/dl with mild microcytic hypochromic red cell indices.The HPLC showed HbD and S-window on BIO RAD D10 machine. The high-performance liquid chromatography showed normal hemoglobin Hb F and Hb A2, which indicates presence of a Compound heterozygous for HbSD-Punjab. Conclusion: Compound heterozygous state for HbD-Punjab with S-window is a rare disorder. HbSD-Punjab has a heterogeneous clinical presentation. Anemia and sickle crises are quite common. The data obtained from the clinical findings, blood picture and electrophoresis or HPLC will help in diagnosis. Genetic counseling is advisable in patients with presence of a Compound heterozygous HbSD-Punjab.