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Sickle cell disease in India: Prevention-driven social and public health implications

Open AccessPublished:April 12, 2022DOI:https://doi.org/10.1016/j.cegh.2022.101047
      Sickle cell disease (SCD) is a common genetic disorder prevalent in countries of Sub-Saharan Africa, Mediterranean region, middle east and Indian sub-continent. About 50% of global SCD burden is shared by three countries including India.
      • Piel F.B.
      • Hay S.I.
      • Gupta S.
      • Weatherall D.J.
      • Williams T.N.
      Global burden of sickle cell anaemia in children under five, 2010-2050: modelling based on demographics, excess mortality, and interventions.
      Each year, approximately 300000 babies are born with SCD. While under-five mortality with SCD can be as high as 90% in some low income countries,
      • Grosse S.D.
      • Odame I.
      • Atrash H.K.
      • Amendah D.D.
      • Piel F.B.
      • Williams T.N.
      Sickle cell disease in Africa: a neglected cause of early childhood mortality.
      in India, with about 1.5 lakh children affected, 20% of children die before the age of 2.
      • Tewari S.
      • Rees D.
      Morbidity pattern of sickle cell disease in India: a single centre perspective.
      Being a monogenic disorder caused due to mutations in the human beta-globin gene; other factors, viz., socio-economic (marriage pattern, poverty, etc.), environmental (oxygen pressure, humidity, etc.) and lifestyle (nutrition, physiological stress, etc.) act as catalyst for manifestation of SCD and therefore is considered as epigenetic.
      • Piel F.B.
      • Steinberg M.H.
      • Rees D.C.
      Sickle cell disease.
      Whereas early diagnosis of SCD can save many lives, proper preventive measures taken early can minimize disease morbidity to a significant extent. To this extent, while (i) pre-marital diagnosis with future genetic blueprint of the babies to be born can minimize SCD in population through avoiding marriages between traits, (ii) pre-natal diagnosis can prevent birth of babies with SCD by medical termination of affected pregnancies. Furthermore, (iii) pre-implantation genetic diagnosis (PGD), which guides embedding the healthy embryo in mother's womb, can also contribute in minimizing the burden of SCD.
      India harbors genetically highly diverged human populations of different origins and is considered to be evolutionarily ancestral. Accordingly, due to high genetic diversity of the beta-globin gene cluster, coupled with diverged eco-climatic and socio-economic factors, clinical manifestations of SCD are also wide-ranging.
      • Piel F.B.
      • Steinberg M.H.
      • Rees D.C.
      Sickle cell disease.
      As preventive measures, SCD is diagnosed majorly at the pre-marital and pre-natal stages, and therefore carry both social taboo and public health implications. For example, with pre-marital diagnosis (the most common form of SCD preventive measures), individuals can face social boycott in term of marriage, jobs, insurance etc. This compels them either to avoid getting diagnosed before marriage or hide the results of the diagnosis. Such kind of social stigma directly or indirectly increases burden of SCD in population. This is exemplified by certain groups of indigenous populations (commonly known as ‘tribes’, constituting about 8.6% of India's population) performing endogamy with a belief of consanguinity, therefore shouldering huge burden of SCD. Similarly, pre-natal diagnosis which is mostly available in big cities and carries chances of miscarriage (about in 2% cases), is not a widely-accepted form of preventive measures of SCD among Indians.
      • Colah R.
      • Surve R.
      • Nadkarni A.
      • et al.
      Prenatal diagnosis of sickle syndromes in India: dilemmas in counselling.
      Couples aware of SCD, either prefer medical termination of pregnancy (MTP) after pre-natal screening or do not go for such screening due to availability of treatment and disease management. In any case, such to-be couples/parents face severe mental trauma, social distress and economic loss.
      With expanding network of both pre-marital and pre-natal screening facilities, especially in rural and tribal areas, declaration of SCD as ‘persons with disabilities’ (to be eligible for benefits under social securities), pilot new-born screening agenda, initiation of nationwide SCD registry and revamped social awareness programs, it is expected that public health burden due to SCD in India will be depreciated in time to come.

      Funding

      This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

      Declaration of competing interest

      None.

      Acknowledgment

      The authors thank the Director General, Indian Council of Medical Research , New Delhi for providing facilities and support.

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