RT Book, Section
A1 Lichtman, Marshall A.
A1 Kaushansky, Kenneth
A1 Kipps, Thomas J.
A1 Prchal, Josef T.
A1 Levi, Marcel M.
SR Print(0)
ID 1126651520
T1 The Sickle Cell Diseases and Related Disorders
T2 Williams Manual of Hematology, 8e
YR 2011
FD 2011
PB McGraw-Hill Education
PP New York, NY
SN 9780071622424
LK hemonc.mhmedical.com/content.aspx?aid=1126651520
RD 2024/04/24
AB The  molecular  biology  of  these  hemoglobinopathies  is  well  understood,  but  clinical  progress  in  treatment  has  been  limited.Hemoglobin  variants  were  initially  designated  by  letter,  but  after  the  letters  of  the  alphabet  were  exhausted,  newly  identified  variants  were  named  according  to  the  place  in  which  they  were  first  found.  If  they  had  a  particular  feature  previously  described  by  a  letter,  the  location  was  added  as  a  subscript  (e.g.,  Hb  MSaskatoon).In  a  fully  characterized  hemoglobin  variant,  the  amino  acid  position  and  change  is  described  in  a  superscript  to  the  appropriate  globin  chain  (e.g.,  Hb  S,  α2  β26Glu-Val).The  term  sickle  cell  disorder  describes  states  in  which  sickling  of  red  cells  occurs  on  deoxygenation.Sickle  cell  anemia  (Hb  SS),  hemoglobin  SC,  sickle  cell–β  thalassemia,  and  hemoglobin  SD  produce  significant  morbidity  and  are  therefore  designated  sickle  cell  diseases.  These  diseases  are  marked  by  periods  of  relative  well-being  interspersed  with  episodes  of  illness,  but  the  severity  of  clinical  manifestations  varies  widely  among  patients.  Generally,  sickle  cell  anemia  is  the  most  severe,  but  there  is  considerable  overlap  in  clinical  behavior  among  these  diseases.Hb  E  might  be  the  most  prevalent  abnormal  hemoglobin  and  is  found  principally  in  Burma,  Thailand,  Laos,  Cambodia,  Malaysia,  and  Indonesia.