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Journal Article
Sickle Cell Disease
2017
Overview
Sickle cell disease is caused by an alteration in a single DNA base, but its clinical manifestations are influenced by other genes and behavioral and environmental factors. Recent findings may indicate an acceleration in the discovery of interventions that alter the disease course.
Sickle cell disease is an increasing global health problem. Estimates suggest that every year approximately 300,000 infants are born with sickle cell anemia, which is defined as homozygosity for the sickle hemoglobin (HbS) gene (i.e., for a missense mutation [Glu6Val, rs334] in the β-globin gene [
HBB
]) and that this number could rise to 400,000 by 2050.
1
Although early diagnosis, penicillin prophylaxis, blood transfusion, transcranial Doppler imaging, hydroxyurea, and hematopoietic stem-cell transplantation can dramatically improve survival and quality of life for patients with sickle cell disease, our understanding of the role of genetic and nongenetic factors in explaining the . . .
Publisher
Massachusetts Medical Society
