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Anaemias resulting from defective maturation of red cells 

Anaemias resulting from defective maturation of red cells

Chapter:
Anaemias resulting from defective maturation of red cells
Author(s):

Stephen J. Fuller

and James S. Wiley

DOI:
10.1093/med/9780199204854.003.220508_update_001

Update:

Chapter reviewed. Substantial updates made to sections on the aetiology and pathogenesis of sideroblastic anaemias and acquired idiopathic sideroblastic anaemia and to the treatment and prognosis of acquired idiopathic sideroblastic anaemia.

Updated on 30 May 2013. The previous version of this content can be found here.
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date: 23 April 2017

Defective maturation of red cells leads to premature destruction of nucleated red cell precursors before they leave the haematopoietic bone marrow, which results in expansion of the marrow, haemolytic jaundice, peripheral signs of increased erythroid turnover on blood films, and (in long-standing disorders) iron overload due to enhanced absorption.

Causes of ineffective erythropoiesis

These include (1) inhibition of erythroid DNA synthesis—e.g. megaloblastic anaemias (vitamin B12 or folate deficiency), drugs blocking DNA synthesis; (2) clonal disorders of erythropoiesis—e.g. refractory anaemia, acquired idiopathic sideroblastic anaemia, acute erythroleukaemia; (3) genetic disorders of erythropoiesis—e.g. thalassaemia syndromes, hereditary sideroblastic anaemia, congenital dyserythropoietic anaemia; (4) other causes—e.g. alcohol.

Sideroblastic anaemias

These result from defects in haem biosynthesis, with most cases being acquired as a clonal disorder of erythropoiesis, with varying degrees of myelodysplasia. Other causes are (1) hereditary—e.g. inherited deficiency of the erythroid-specific 5-aminolaevulinic acid synthase 2 gene on the X-chromosome causes congenital sideroblastic anaemia; (2) acquired—e.g. due to drugs or toxins such as ethanol, isoniazid, or lead; following chemotherapy or irradiation; or of unknown cause (idiopathic).

Diagnosis, treatment and prognosis—diagnosis is achieved by finding ring sideroblasts (erythroblasts containing iron-positive granules arranged in a perinuclear location around one-third or more of the nucleus) on bone marrow aspirate stained with Prussian blue iron reagent. Aside from supportive care with blood transfusion and iron chelation, a trial of pyridoxine is generally indicated (25% of hereditary cases—but few acquired cases—show some response). Acquired idiopathic sideroblastic anaemia has a median survival of 42 to 76 months, with 3 to 12% progressing to acute leukaemia.

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