Diamond-Blackfan anaemia

Dr Henry Knipe and Austin Fletcher et al.

Diamond-Blackfan anaemia, also known as pure red cell aplasia, is a rare congenital anaemia that typically presents in the first few years of life as a normocytic or macrocytic anaemia usually only affecting cells of the erythroid lineage 2. However, neutropenia and thrombocytopenia may occasionally be noted 1.  The disorder is also associated with an increased risk of acute myeloid leukemia and osteogenic sarcoma 3 .

Pathology

Diamond-Blackfan anemia displays an autosomal dominant inheritance with incomplete penetrance 4 . Deletion of ribosomal proteins specifically RPS19 is the cause of Diamond-Blackfan in approximately 25% of patients 2

Congenital malformations are often observed 1:

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Article information

rID: 53881
System: Haematology
Section: Pathology
Tags: refs, cases
Synonyms or Alternate Spellings:
  • Diamond-Blackfan anemia

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Cases and figures

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