RT Book, Section A1 Italia, Yazdi A1 Jain, Dipty A1 Colah, Roshan A1 Italia, Khushnooma A2 Gladwin, Mark T. A2 Kato, Gregory J. A2 Novelli, Enrico M. SR Print(0) ID 1179345759 T1 The Burden of the Sickle Cell Gene in India T2 Sickle Cell Disease YR 2021 FD 2021 PB McGraw-Hill Education PP New York, NY SN 9781260458596 LK hemonc.mhmedical.com/content.aspx?aid=1179345759 RD 2024/03/28 AB The burden of sickle cell disease (SCD) in India is high. SCD is widespread not only among the indigenous populations but also among the scheduled castes and other backward classes. The sickle gene is linked to the Asian haplotype with high fetal hemoglobin (HbF) levels, but SCD patients have an extremely diverse clinical presentation in different regions of the country. The frequency of associated α thalassemia is variable in different populations, and this also modulates the severity of the disease. The main causes of morbidity are acute or chronic painful events, infections, and anemia. The spectrum of bacterial infections in Indian SCD patients is different from African cohorts; Staphylococcus aureus, Salmonella, Klebsiella, and Escherichia coli are more commonly seen. Fixed low-dose hydroxyurea therapy has been effective in Indian patients; however, compliance, availability of the drug, and accessibility are some of the constraints. The Gujarat SCD control program has served as a model for community screening using solubility test and high-performance liquid chromatography (HPLC) analysis followed by counseling and prenatal diagnosis in different states. Some challenges include limited awareness and late registration in antenatal clinics. Newborn screening programs have been introduced relatively recently in a few states, and follow-up of birth cohorts will help to understand the natural history of SCD in India. Curative options such as hematopoietic stem cell transplantation are not easily available to these economically disadvantaged populations due to the high cost and lack of suitable donors. Different government initiatives are also supporting care and control programs, and these should lead to a national registry of SCD patients in India.