A rare co-inheritance of hb-d/ β-thalassemia in two cases of a rajasthani family: clinical relevance

We report a rare case of compound heterozygous condition of Hb-D/β-thalassemia (Hb-D/β+) in a Rajasthani family of Western India after analyzing four samples (3 blood + CVS) using DNA sequencing and Hb electrophoresis including phenotypic indices. This condition is identified in Rajasthan state only with Hb-D/β disease in two cases i.e. father and Chorionic villus sampling (CVS), though Hb-D Punjab traits are known. Hence, it is recommended that this condition may require blood transfusion on suggestion of clinician and phenotypic characters. Further six month old daughter suffered with β0/β0 mutations of homozygosity with blood transfusion too. Therefore it is rare and novel, is suggested to have prenatal screening for better management of families and to discourage marriages possessing such carriers in the society.