RT Book, Section 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. SR Print(0) ID 1102699783 T1 Sickle Cell Anemia T2 Clinical Genomics: Practical Applications in Adult Patient Care YR 2014 FD 2014 PB McGraw-Hill Education PP New York, NY SN 9780071622448 LK accessmedicine.mhmedical.com/content.aspx?aid=1102699783 RD 2024/03/29 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.