TY  - CHAP
M1  - Book, Section
TI  - The Congenital Dyserythropoietic Anemias
A1  - Iolascon, Achille
A2  - Kaushansky, Kenneth
A2  - Lichtman, Marshall A.
A2  - Prchal, Josef T.
A2  - Levi, Marcel M.
A2  - Press, Oliver W.
A2  - Burns, Linda J.
A2  - Caligiuri, Michael
Y1  - 2015
N1  - 
T2  - Williams Hematology, 9e
AB  - SUMMARYThe  congenital  dyserythropoietic  anemias  (CDAs)  are  a  heterogeneous  group  of  rare  disorders  characterized  by  anemia,  the  presence  of  erythroid  hyperplasia  with  multinuclear  erythroid  precursors  in  the  marrow,  ineffective  erythropoiesis  and  secondary  iron  overload.*  Only  the  erythroid  series  shows  significant  abnormalities,  with  rare  exceptions.  Patients  have  been  classified  as  types  I,  II,  and  III,  but  several  patients  appearing  with  these  general  characteristics  do  not  fit  into  any  of  the  three  groups.  CDA  types  I  and  II  are  inherited  as  autosomal  recessive  disorders,  and  type  III  disease  is  inherited  as  an  autosomal  dominant  disorder.  Type  I  disease  is  caused  by  mutations  of  the  CDAN1  gene.  Codanin-1,  the  gene  product,  is  a  cell-cycle-regulated  protein  of  currently  unknown  function.  In  codanin-negative  cases,  C15ORF41  mutations  can  cause  type  I  CDA.  Type  II  CDA  is  also  known  as  hereditary  erythroblastic  multinuclearity  with  a  positive  acidified  serum  test,  or  by  its  acronym  HEMPAS.  The  vast  majority  of  CDA  type  II  cases  are  caused  by  mutations  of  the  SEC23B  gene.  This  gene  encodes  the  cytoplasmic  COPII  (coat  protein)  component  SEC23B,  which  is  involved  in  the  secretory  pathway  of  eukaryotic  cells.  CDA  type  III  disease  is  rarer  than  the  other  two  forms  and  its  erythroid  production  failure  is  accompanied  by  a  tendency  for  the  development  of  retinal  angioid  streaks  and  of  myeloma  in  the  long  term.  It  is  caused  by  KIF23  mutations,  a  gene  encoding  mitotic  kinesin-like  protein  1,  which  plays  a  critical  role  in  cytokinesis.  There  is  no  specific  treatment  for  these  disorders.  Management  includes  red  cell  transfusion,  removal  of  excess  body  iron  by  chelation  therapy  or  judicious  phlebotomy,  splenectomy,  and  allogeneic  hematopoietic  stem  cell  transplantation.  Only  in  severe  forms  of  type  I  CDA  does  interferon-α  decrease  transfusion  needs.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/16
UR  - accessmedicine.mhmedical.com/content.aspx?aid=1121092050
ER  -