Sickle Cell Anaemia

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    • Recently in Budget 2023-24, the Finance Minister has announced that India will eliminate the sickle cell Anaemia condition in a mission mode by 2047.

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    • India is the second-worst affected country in terms of predicted births with SCA — i.e. chances of being born with the condition.
    • Research and screening programmes have found that the prevalence of haemoglobinopathies — disorders of the blood — is more common among tribal populations than non-tribal communities in India. 
    • SCA is prevalent in communities residing in areas where malaria is endemic. The sickle cell trait thus gave an evolutionary advantage, offering immunity to some people during malaria epidemics. 
    • Prevalence of SCA is higher in communities that practice endogamy, as the chances of having two parents with sickle cell trait is higher.

    What is sickle cell anaemia?

    • Sickle cell disease (SCD) is a group of inherited (genetic) red blood cell disorders. 
    • Red blood cells (RBCs) contain hemoglobin, a protein that carries oxygen. Healthy red blood cells are round, and they move through small blood vessels to carry oxygen to all parts of the body. In SCD, the hemoglobin is abnormal, which causes the RBCs to become hard and sticky and look like a C-shaped farm tool called a “sickle.”
    • It is transmitted by parents carrying a defective ‘beta globin’ gene
    • The sickle cells die early, which causes a constant shortage of RBCs. 
    • When they travel through small blood vessels, they get stuck and clog the blood flow. This can cause pain and other serious complications (health problems) such as infection, acute chest syndrome and stroke.

    Treatment

    • SCA 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. 
    • Gene Therapy:  The DNA inside the haemoglobin gene is edited to stop the disease.
    • Stem cells Transplant: the bone marrow affected by sickle cell anaemia is replaced with healthy bone marrow from a donor. 
    • Blood Transfusion: RBCs are removed from donated blood and given to a patient, but challenges include a scarcity of donors, fears around safe supply of blood, risk of infection etc.

    Efforts by India to eliminate SCA

    • 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, 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 and the mission will receive funding under the National Health Mission.
    • The mission will entail awareness creation, universal screening of seven crore people in the age group of 0-40 years in effective tribal areas and counselling through collaborative efforts of central ministries and State governments.

    What is Hemophilia? 

    • Hemophilia is usually an inherited bleeding disorder in which the blood doesn’t clot properly. This can lead to spontaneous bleeding as well as bleeding following injuries or surgery.
    • Hemophilia is caused by a mutation or change, in one of the genes, that provides instructions for making the clotting factor proteins needed to form a blood clot.
    • These genes are located on the X chromosome. Males have one X and one Y chromosome (XY) and females have two X chromosomes (XX). 
    • Hemophilia can result in:
      • Bleeding within joints that can lead to chronic joint disease and pain.
      • Bleeding in the head and sometimes in the brain which can cause long term problems, such as seizures and paralysis.
      • Death can occur if the bleeding cannot be stopped or if it occurs in a vital organ such as the brain.
    • The following two are the most common:
      • Hemophilia A (Classic Hemophilia): This type is caused by a lack or decrease of clotting factor VIII.
      • Hemophilia B (Christmas Disease): This type is caused by a lack or decrease of clotting factor IX.
    • Treatment: There are 2 main approaches to treatment:
      • preventative treatment, where medicine is used to prevent bleeding and subsequent joint and muscle damage,
      • on-demand treatment, where medicine is used to treat prolonged bleeding.

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