TY - CHAP M1 - Book, Section TI - Sickle Cell Anemia A1 - Alsultan, Abdulrahman A1 - Steinberg, Martin H. A2 - Murray, Michael F. A2 - Babyatsky, Mark W. A2 - Giovanni, Monica A. A2 - Alkuraya, Fowzan S. A2 - Stewart, Douglas R. PY - 2014 T2 - Clinical Genomics: Practical Applications in Adult Patient Care AB - Disease summary:Sickle cell anemia (HbSS) is caused by homozygosity for a point mutation in the β-globin gene (HBB) that leads to replacement of glutamic acid by valine at position six of the β-globin chain of hemoglobin (β6 Glu>Val) leading to the synthesis of abnormal β-globin chains. The HbS β-globin chain pairs with normal a-globin chains to produce sickle hemoglobin or HbS (a2βS2).Clinical presentation of HbSS is heterogeneous among patients even though all cases have the identical HbS mutation suggesting modification of the disease phenotype by other genes and the environment.Complications can be related to sickle vaso-occlusion, for example, acute painful episodes, osteonecrosis, and acute chest syndrome and also be associated with the degree of hemolysis, for example, gallbladder disease, stroke, priapism, leg ulcers, and pulmonary hypertension.The major treatment modalities include blood transfusion for severe anemia, stem cell transplantation for selected cases and administration of hydroxyurea (hydroxycarbamide) to stimulate the production of fetal hemoglobin (HbF) that by virtue of its effects on HbS polymerization, can decrease most complications of disease and extend lifespan. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/10/12 UR - accessmedicine.mhmedical.com/content.aspx?aid=1102699783 ER -