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Br J Haematol. 2013 Jan;160(1):12-24. doi: 10.1111/bjh.12081. Epub 2012 Oct 11.

How I manage patients with atypical microcytic anaemia.

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Vita-Salute University and San Raffaele Scientific Institute, Via Olgettina 60, Milan, Italy.


Microcytic hypochromic anaemias are a result of defective iron handling by erythroblasts that decrease the haemoglobin content per red cell. Recent advances in our knowledge of iron metabolism and its homeostasis have led to the discovery of novel inherited anaemias that need to be distinguished from common iron deficiency or other causes of microcytosis. These atypical microcytic anaemias can be classified as: (i) defects of intestinal iron absorption (ii) disorders of the transferrin receptor cycle that impair erythroblast iron uptake (iii) defects of mitochondrial iron utilization for haem or iron sulphur cluster synthesis and (iv) defects of iron recycling. A careful patient history and evaluation of laboratory tests may enable these rare conditions to be distinguished from the more common iron deficiency anaemia. Molecular studies allow distinction of the different types, a prerequisite for differentiated therapy.

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