TY  - CHAP
M1  - Book, Section
TI  - The Hereditary Dyserythropoietic Anemias
A1  - Iolascon, Achille
A1  - Russo, Roberta
A1  - Khoriaty, Rami
A2  - Kaushansky, Kenneth
A2  - Prchal, Josef T.
A2  - Burns, Linda J.
A2  - Lichtman, Marshall A.
A2  - Levi, Marcel
A2  - Linch, David C.
PY  - 2021
T2  - Williams Hematology, 10e
AB  - SUMMARYThe  hereditary  dyserythropoietic  anemias  also  known  as  congenital  dyserythropoietic  anemias  (CDAs)  are  a  group  of  hereditary  disorders  characterized  by  (1)  anemia  caused  by  ineffective  erythropoiesis,  (2)  erythroid  hyperplasia  with  increased  percentage  of  bi/multinucleated  erythroid  precursors  in  the  marrow,  and  often  (3)  hemochromatosis  resulting  from  increased  absorption  of  iron.  The  CDAs  are  classically  divided  into  three  types  (CDA  I,  II,  and  III).  CDA  I  is  an  autosomal  recessive  disease  resulting  from  mutations  in  either  CDAN1  or  C15ORF41  and  is  characterized  by  a  “Swiss  cheese”  appearance  of  heterochromatin  and  internuclear  chromatin  bridges.  CDA  II,  also  an  autosomal  recessive  disease,  is  the  most  common  CDA  type  and  results  from  mutations  in  SEC23B.  CDA  II  is  characterized  by  a  double-membrane  appearance  of  the  red  blood  cell  (RBC)  plasma  membrane,  faster  mobility  of  the  RBC  membrane  protein  band  3  by  sodium  dodecylsulfate  polyacrylamide  gel  electrophoresis,  and  lysis  of  erythrocytes  in  a  subset  of  acidified  human  sera,  hence  its  prior  designation  as  hereditary  erythroblastic  multinuclearity  with  a  positive  acidified  serum  test  (commonly  known  as  HEMPAS).  CDA  III  is  an  autosomal  dominant  disease  resulting  from  mutations  in  KIF23.  CDA  III  is  characterized  by  giant  multinucleated  erythroblasts  and  increased  risk  of  development  of  angioid  streaks  and  myeloma.  Additional  CDA  variants  resulting  from  mutations  in  KLF1,  GATA1,  ALAS2,  LPIN2,  CAD,  COX4I2,  and  MVK  have  been  reported.  The  CDA  disease  severity  is  highly  variable,  ranging  from  hydrops  fetalis  to  minimal  or  no  anemia.  Treatment  is  largely  individualized  and  depends  on  the  severity  of  the  disease  and  the  specific  clinical  manifestation.  Although  allogeneic  stem  cell  transplantation  is  the  only  curative  modality,  it  can  be  justified  in  only  a  small  subset  of  patients  because  of  risks  associated  with  the  procedure.  Other  treatment  modalities  include  RBC  transfusion  support,  iron  chelation,  splenectomy,  and  interferon-α  (for  CDA  I  patients  only).  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/18
UR  - accessmedicine.mhmedical.com/content.aspx?aid=1178739908
ER  -