RT Book, Section
A1 Machado, Roberto F.
A1 Gladwin, Mark T.
A2 Grippi, Michael A.
A2 Antin-Ozerkis, Danielle E.
A2 Dela Cruz, Charles S.
A2 Kotloff, Robert M.
A2 Kotton, Camille Nelson
A2 Pack, Allan I.
SR Print(0)
ID 1195011088
T1 Pulmonary Complications of Sickle Cell Disease
T2 Fishman’s Pulmonary Diseases and Disorders, 6e
YR 2023
FD 2023
PB McGraw-Hill Education
PP New York, NY
SN 9781260473988
LK accessmedicine.mhmedical.com/content.aspx?aid=1195011088
RD 2024/04/19
AB Sickle  cell  disease  (SCD)  is  one  of  the  most  common  monogenetic  diseases  in  the  world.1  Sickle  cell  anemia,  the  most  common  and  most  severe  form  of  SCD,  occurs  in  individuals  who  are  homozygous  for  a  single  GAG  to  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.2  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.3  It  is  estimated  that  approximately  250,000  children  worldwide  are  born  with  homozygous  sickle  cell  (HbSS)  anemia  every  year.4  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.5