- Sickle cell anaemia (SCA), a genetic blood disorder, found mention in the Budget this year.
- Finance Minister n said that the government will work in “mission mode” to eliminate the condition by 2047.
What is Sickle cell Anaemia
- In patients with Sickle Cell Anaemia, blood cells are shaped like a sickle, similar to the letter C.
- Haemoglobin which is tasked with carrying oxygen to all parts of the body has four protein subunits — two alpha and two beta.
- In some people, mutations in the gene that creates the beta subunits impact the shape of the blood cell and distort it to look like a sickle.
- A round red blood cell can move easily through blood vessels because of its shape but sickle red blood cells end up slowing and even blocking the blood flow.
- Moreover, sickle cells die early, resulting in a shortage of red blood cells that deprive the body of oxygen.
- These obstructions and shortages may cause chronic anaemia, pain, fatigue, acute chest syndrome, stroke, and a host of other serious health complications
- In 1910, a physician named James Herrick wrote of discovering unusual red blood cells in an anaemic student from Granada, Spain.
- Unusual, because unlike their usual globular structure with an indented centre – like a doughnut with a hole – these blood cells were shaped like a sickle.
- This was the first description of sickle cell anaemia in western medical literature.
Link between Sickle cell Anaemia and Malaria
- Research has shown that SCA is prevalent in communities residing in areas where malaria is endemic.
- Around the middle 1940s, doctors found that those with sickle red blood cells were more likely to survive malaria.
- Those with the trait in some African countries were found to be potentially resistant to lethal forms of malaria and had a survival advantage.
- The sickle cell trait thus gave an evolutionary advantage, offering immunity to some people during malaria epidemics.
Treatment of Sickle Cell Anaemia
- Sickle cell anaemia is a genetic disorder, making complete “elimination” a challenge that requires a major scientific breakthrough.
- The only cure comes in the form of gene therapy and stem cell transplants — both costly and still in developmental stages.
- In gene therapy, the DNA inside the haemoglobin gene is edited to stop the disease
- In stem cell transplants, the bone marrow affected by sickle cell anaemia is replaced with healthy bone marrow from a donor.
- Both interventions are currently being tested in clinical trials globally.
- Blood transfusion, wherein red blood cells are removed from donated blood and given to a patient, is also a trusted treatment in the absence of permanent cures.
Efforts by India
- The Indian Council of Medical Research and the National Rural Health Mission in different States are undertaking outreach programmes for better management and control of the disease.
- The Ministry of Tribal Affairs launched a portal wherein people can register themselves if they have the disease or the trait, in order to collate all information related to SCA among tribal groups.
- The National Health Mission guideline on Hemoglobinopathies also identifies “establishing services at the community level for pre-marital and pre-conception screening backed by genetic counselling services” as a strategy for addressing SCA
- In the Budget, the Union Health Minister said the government plans to distribute “special cards” across tribal areas to people below the age of 40. The cards will be divided into different categories based on the screening results. The mission will receive funding under the National Health Mission.