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2015 ; 2015
(1
): 160-7
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Sickle cell trait diagnosis: clinical and social implications
#MMPMID26637716
Naik RP
; Haywood C Jr
Hematology Am Soc Hematol Educ Program
2015[]; 2015
(1
): 160-7
PMID26637716
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The sickle hemoglobin (HbS) point mutation has independently undergone
evolutionary selection at least five times in the world because of its
overwhelming malarial protective effects in the heterozygous state. In 1949,
homozygous Hb S or sickle cell disease (SCD) became the first inherited condition
identified at the molecular level; however, since then, both SCD and heterozygous
Hb S, sickle cell trait (SCT), have endured a long and complicated history. Hasty
adoption of early mass screening programs for SCD, recent implementation of
targeted screening mandates for SCT in athletics, and concerns about
stigmatization have evoked considerable controversy regarding research and policy
decisions for SCT. Although SCT is a largely protective condition in the context
of malaria, clinical sequelae, such as exercise-related injury, renal
complications, and venous thromboembolism can occur in affected carriers. The
historical background of SCD and SCT has provided lessons about how research
should be conducted in the modern era to minimize stigmatization, optimize study
conclusions, and inform genetic counseling and policy decisions for SCT.
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