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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/9780198746690.003.0538
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date: 02 March 2021

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 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); and (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 five or more 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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