TY - CHAP M1 - Book, Section TI - Pulmonary Complications of Sickle Cell Disease A1 - Machado, Roberto F. A1 - Gladwin, Mark T. A2 - Grippi, Michael A. A2 - Elias, Jack A. A2 - Fishman, Jay A. A2 - Kotloff, Robert M. A2 - Pack, Allan I. A2 - Senior, Robert M. A2 - Siegel, Mark D. Y1 - 2015 N1 - T2 - Fishman's Pulmonary Diseases and Disorders, 5e AB - Sickle cell disease (SCD) is one of the most common monogenetic diseases in the world. Sickle cell anemia, the most common and most severe form of SCD, occurs in individuals who are homozygous for a single GAG α GTG substitution in the β-globin gene, resulting in the production of hemoglobin S (HbS). Patients with other types of SCD are compound heterozygotes, having one copy of HbS and one copy of another β-globin mutation, such as hemoglobin SC or HbS-β thalassemia.1 The presence of concurrent α-thalassemia, which will reduce the intracellular concentration of hemoglobin, also modulates disease severity and accounts for some of the variability in the clinical presentation of patients with SCD.2 It is estimated that approximately 250,000 children worldwide are born with homozygous sickle cell (HbSS) anemia every year.3 Approximately 0.15% of African Americans are homozygous for SCD, and 8% have sickle cell trait. In sub-Saharan Africa, up to 40% of the population carry sickle cell trait, and up to 1% of children are born with SCD.4 SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessmedicine.mhmedical.com/content.aspx?aid=1122365564 ER -