Sickle Cell Disease: Prevalence, Challenges And Road Map For Its Control In India By 2047
Prof. Hariom Sharma1
1Laboratory Director Govt. Medical College & Sir T. Hospital Bhavnagar – Gujarat – India Hon. Scientific Coordinator of SCDIO – France.
Corresponding Author: Prof. Hariom Sharma
E-mail: hariom_sharma2000@yahoo.com
Introduction
Sickle cell disease (SCD) is first molecular disease known to mankind, and at the same time it is most neglected disease world over. Red blood cells become sickle shape as result of missense mutation in the HBB gene encoding the β-globin subunit of haemoglobin. An individual will have sickle cell trait due to one sickle mutation (usually sickle haemoglobin [HbS]), whereas sickle cell disease will arise due to mutation on both HBB genes (at least one of which is HbS). Sickle cell trait is largely a benign condition but on the other hand confers protection against severe malaria. Sickle cell disease patients will have a lifelong, severely-disabling disease with lower quality of life, high use of medical resources, increased economic burden, and nearly guaranteed early death. Sickle cell disease (SCD) is very complex in nature as it causes multiple complication like malformed, sickle-shaped red blood cells that occlude capillaries and prevent tissue oxygen delivery, leading to acute and chronic pain, severe anaemia, kidney dysfunction, acute chest syndrome, stroke and other cardiovascular diseases, increased susceptibility to infectious diseases (including malaria), pregnancy complications, and maternal mortality The number of people living with sickle cell disease globally increased by 41·4% (38·3–44·9), from 5·46 million (4·62–6·45) in 2000 to 7·74 million (6·51–9·2) in 2021. According to one report causespecific all-age deaths globally in 2021 was 34,400 (25000–45200), but total sickle cell disease mortality burden was nearly 11-times higher at 3,76,000 (3,03 000–4,67 000). In children younger than 5 years, there were 81,100 (58 800–108000) deaths, ranking total sickle cell disease mortality as 12th (compared to 40th for cause-specific sickle cell disease mortality) across all causes estimated by the GBD in 2021.