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Sickle Cell Disease Research Paper

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World Health Organization (WHO) has declared that hemoglobinopathies are the most widespread inherited disorder in the world (1). The principal hemoglobin disorder, sickle cell disease (SCD), is a recessively inherited disorder (2,3). Patients with both genes for SCD have the most severe form of the disease, sickle cell anemia (SCA). Following population migration, SCA is now seen throughout the world, as demonstrated by the employment of universal screening programs in the United States of America, in the United Kingdom, and in French overseas territories. It is predicted that human immigration will continue to rise with further globalization (4), the implementation of prevention measures, in low- and middle-income countries will be of direct …show more content…

HbSS) occurs when thymine is substituted for adenine at the sixth amino acid position of the β globin chain of the hemoglobin tetramer (2-α globin and 2-β globin chains) resulting in the production of valine (a hydrophobic amino acid) instead of glutamic acid, which is hydrophilic (12). Although all SCA patients share the same genetic mutation, the clinical course is highly variable between patients (13). The highest sickle cell trait (HbAS) carrier rate is present in families who trace their ancestry to malaria endemic regions (14). In addition to homozygous SCA, other sickle-related hemoglobinopathies occur when HbS is inherited in the heterozygous state with another β globin chain mutation (most commonly HbC, i.e. HbSC) or quantitative defects in β globin production (HbS0thalassaemia and HbS+thalassaemia). Both HbS0thalassaemia and HbSS are clinically severe, while patients with HbSC and HbS+thalassaemia generally have milder phenotypes. Approximately 1 in 500 African American infants born in the United States are affected by SCD (includes SCA and heterozygous sickle hemoglobinopathies), and it is estimated that nearly 100 000 SCD patients live in the United States …show more content…

This condition results in the inability to filter waste products such as bacteria from the blood or impaired sickle cells (17). The spleen functions to remove encapsulated organisms especially in children under the age of two who are incapable of developing antibodies to encapsulated bacteria (18). Infection with encapsulated bacteria such as Streptococcus pneumoniae often advances quickly to mortality, usually within less than 24 hours from the time of onset (10). The spleen is also able to manufacture opsonins, which attach to bacteria and trigger phagocytosis (17). Thereby, children with SCD with functional asplenia also have an impaired immune response

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