RT Book, Section
A1 Ponka, Prem
A1 Prchal, Josef T.
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
SR Print(0)
ID 1121095397
T1 Polyclonal and Hereditary Sideroblastic Anemias
T2 Williams Hematology, 9e
YR 2015
FD 2015
PB McGraw-Hill Education
PP New York, NY
SN 9780071833004
LK hemonc.mhmedical.com/content.aspx?aid=1121095397
RD 2024/04/24
AB SUMMARYSideroblastic  anemias  are  characterized  by  the  presence  of  ring  sideroblasts  in  the  marrow.  These  cells  are  erythroid  precursors  that  have  accumulated  abnormal  amounts  of  mitochondrial  iron.  A  variety  of  abnormalities  of  porphyrin  metabolism  in  affected  erythroid  cells  have  been  documented.  Hereditary  sideroblastic  anemias  are  usually  X  linked,  as  the  result  of  mutations  in  the  erythroid  form  of  5-aminolevulinic  acid  synthase.  Inherited  autosomal  and  mitochondrial  forms  are  seen,  occasionally.  Acquired  sideroblastic  anemias  can  occur  as  a  result  of  the  ingestion  of  drugs,  alcohol,  or  toxins  such  as  lead  or  zinc,  or  copper  deficiency.  Patients  with  acquired  sideroblastic  macrocytic  anemia  and  variable  degrees  of  thrombocytopenia  and  leukopenia  from  copper  deficiency  have  been  recognized  more  frequently;  the  hematologic  abnormalities  typically  resolve  after  copper  replacement.  Ring  sideroblasts  are  also  a  feature  of  myelodysplastic  neoplasms,  and  are  discussed  in  Chap.  87.  Some  patients  with  sideroblastic  anemia  may  respond  to  pharmacologic  doses  of  pyridoxine.  Iron  loading  is  common  in  the  sideroblastic  anemias  and  can  be  treated  by  phlebotomy  when  the  anemia  is  mild  or  with  iron  chelators  (Chap.  43)  when  it  is  more  severe.