alexa Abstract | Sickle Cell Disease: Current Challenges
ISSN: 2329-8790

Journal of Hematology & Thromboembolic Diseases
Open Access

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Abstract

Sickle cell disease (SCD) is one of the most common monogenic diseases worldwide. Although there have been some advances in the management of SCD, much remains to be learned about the mechanisms underlying the wide phenotypic diversity of the disease. In resource poor countries, basic facilities for diagnosis and management are lacking, systematic screening is not common practice, and diagnosis is made late. Common and important morbidities associated with SCD are vaso-occlusive episodes, infections, acute chest syndrome, stroke and hip necrosis. These morbidities are often not managed effectively due to lack of proper infrastructure, expertise, and economical burden. Inadequate laboratory facilities and prenatal diagnostic services hamper proper management of disease complications as well as prevention. Newborn screening is yet to be implemented at national level in countries like India. Population screening programs are not universally undertaken, and some of the diagnostic strategies used have limitations. Advanced therapeutics like bone marrow transplantation are expensive, and gene therapy and stem cell therapy are still at an experimental stage. Emphasis should be placed on early counseling, newborn screening, anti-microbial prophylaxis, vaccination against infections and training of healthcare workers, patients and caregivers. Natural history of sickle cell disease in specific geographic areas like Africa and India is still unknown, where infections, malaria and malnutrition are key factors affecting the outcome. Further, in these countries, management guidelines used have been largely extrapolated from resourceful countries where most of the research has been done. There is need to develop tailor made guidelines for specific countries and areas. Global burden of SCD is rising, highlighting the need to develop specific prevention and management related national policies for appropriate public health planning. In resource poor countries where SCD is a major public health concern, basic facilities for management are usually not available, systematic screening is not common practice and diagnosis is usually made late, when patients present with severe complications. This article highlights the challenges faced at all levels including patients, relatives, health care personnel, international health organizations, and government health policy makers.

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Author(s): Dipty Jain, Ashish Lothe and Roshan Colah

Keywords

Sickle cell disease, Resource poor countries, Clinical heterogeneity, Challenges in diagnosis, Prevention, Sickle Erythrocytes, Anemia

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