The prevalence of G6PD deficiency in Vataliya Prajapatis community was found to be the highest ever reported in the Indian caste-groups population studied so far.

in two Indian familiesa rare cause of methaemoglobinemia

Haemoglobinopathies represent a significant national health burden in India. The distribution of specific disorders varies geographically and by community. Heterozygote frequencies of β-thalassaemia range from 1 to 15%, resulting in an estimated 20 million carriers. HbS is mainly present in tribal and non-caste communities, with carrier prevalences of up to 40%. By comparison, α-thalassaemia carriers are found in both the caste and tribal communities, and can reach a frequency of >90% in the latter case. Community control of haemoglobinopathies relies mainly on out-reach education programmes and genetic counselling, with antenatal diagnosis offered in specific major centres. Only partial data are available on the prevalence of haemophilia, but it has been estimated that there are some 50,000 affected individuals nationwide, with an additional 1,500 new cases born each year. RFLP-based techniques have been established to detect mutations in the factor VIII and IX genes, enabling the limited introduction of carrier detection and antenatal diagnosis.

Compound heterozygosity for β S /β D results in a severe hemolytic anemia and a clinical syndrome similar to that of sickle cell disease. Here, we report a case of HbSD Punjab disease. A 10 year old female child residing at Nagpur, Maharashtra presented with severe hemolytic anemia, hepatosplenomegaly and occasional pains in bones and abdomen. Initially, she was thought to be a case of sickle cell anemia, however, with the help of HPLC and molecular analysis it was confirmed as HbSD Punjab disease.

Improvements in medical facilities have helped a large number of clinically severe hemoglobin E (HbE)-β-thalassemia patients reach adulthood. Consequently, there is a new challenge, that of managing women with HbE-β-thalassemia during pregnancy. In particular, they have a high risk of abortion, preterm delivery, intrauterine growth restriction, and thromboembolism. A 27-year-old HbE-β-thalassemia patient on regular transfusion, who was splenectomized and heptatitis C (HCV)-positive, conceived for the first time without any infertility treatment. However, there was incomplete abortion with heavy bleeding at 3 months of gestation, which required bilateral uterine artery angiography. The angiogram showed the left uterine artery to be moderately hypertrophied. This was embolized with 300-500 micron polyvinyl alcohol (PVA) to stop the bleeding. Soon after, she conceived again with a twin pregnancy, and at 33.3 weeks of gestation, there was a normal delivery of twin girls without any postpartum hemorrhage or perineal tear. Both babies were given prematurity care. The mother and children were both normal up till the last follow-up 18 months after delivery, and both the girls are HbE heterozygous. Thorough monitoring of endocrine functions along with proper management of transfusions and iron overload can help in reducing the complications related to pregnancy in these patients.