RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164072309
T1 Hemoglobin Disorders: An Overview
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164072309
RD 2024/04/19
AB Hemoglobinopathy  is  a  genetic  defect  that  causes  abnormal  structure  of  one  of  the  globin  chains  of  the  hemoglobin  molecule.  There  are  the  results  of  a  genetic  defect  causing  structural  changes  in  one  of  the  globin  chains  of  the  hemoglobin  molecule.  They  represent  inherited  single-gene  disorders  and,  most  frequently,  are  transmitted  as  autosomal  codominant  traits.  Hemoglobin  disorders  are  listed  in  Table  H-2.  It  is  estimated  that  7%  of  world’s  population  are  carriers  of  defective  genes  of  the  hemoglobin  molecule.  Most  of  individual  affected  are  located  in  Africa,  with  60%  of  the  entire  population  being  carriers  and  70%  pathological.  Hemoglobinopathies  are  also  common  in  the  Mediterranean  and  Southeast  Asia.  It  is  important  to  note  that,  while  hemoglobinopathies  are  the  result  of  structural  abnormalities  in  the  hemoglobin  chain,  Thalassemia  on  the  other  end  result  of  an  underproduction  of  normal  hemoglobin  proteins  (usually  due  to  a  mutation).  The  two  conditions  may  overlap  because  some  hemoglobinopathies  cause  abnormalities  in  globin  proteins  (hemoglobinopathy)  and  also  affect  production  (thalassemia).  Therefore,  it  is  considered  that  some  hemoglobinopathies  are  also  thalassemias,  but  most  are  not.  Clinically,  it  is  essential  to  note  that  both  conditions  may  cause  anemia.  For  instance,  sickle-cell  anemia  and  congenital  dyserythropoietic  anemia  are  considered  hemoglobinopathies.  Finally,  because  many  hemoglobin  variants  do  not  cause  clinical  pathology  or  anemia,  they  are  not  classified  as  hemoglobinopathies,  and  will  not  be  discussed  in  this  section.