RT Book, Section
A1 Lichtman, Marshall A.
A1 Kaushansky, Kenneth
A1 Prchal, Josef T.
A1 Levi, Marcel M.
A1 Burns, Linda J.
A1 Armitage, James O.
SR Print(0)
ID 1133362883
T1 The Sickle Cell Diseases and Related Disorders
T2 Williams Manual of Hematology, 9e
YR 2017
FD 2017
PB McGraw-Hill Education
PP New York, NY
SN 9781259642470
LK hemonc.mhmedical.com/content.aspx?aid=1133362883
RD 2024/04/19
AB The  molecular  biology  of  hemoglobinopathies  is  well  understood,  but  clinical  progress  in  treatment  has  been  limited.  The  vast  majority  of  hemoglobinopathies  are  the  result  of  single-nucleotide  substitutions  in  the  α,  β,  δ,  or  γ  chains  within  the  hemoglobin  (Hb)  tetramer.Hb  variants  are  designated  by  letters  of  the  alphabet,  but  after  the  letters  of  the  alphabet  were  exhausted,  newly  identified  variants  were  named  according  to  the  place  in  which  they  were  first  found  (eg,  Hb  Zurich).  If  they  had  a  particular  feature  previously  described  by  a  letter,  the  location  was  added  as  a  subscript  (eg,  Hb  MSaskatoon).In  a  fully  characterized  Hb  variant,  the  amino  acid  position  and  change  are  described  in  a  superscript  to  the  appropriate  globin  chain  (eg,  Hb  S,  α2  β26Glu-Val).