anaemia sideroblastic pyridoxine-refractory autosomal recessive

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anaemia sideroblastic pyridoxine-refractory autosomal recessive2016-11-08T19:51:07+00:00

anaemia sideroblastic pyridoxine-refractory autosomal recessive

HAEMATOLOGY

Definition A form (OMIM:205950) of sideroblastic anaemia* which is unresponsive to pyridoxine.

*Sideroblastic anaemia is characterised by anaemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload due to chronic ineffective erythropoiesis, and ringed sideroblasts in the bone marrow. Sideroblasts are iron-loaded mitochondria clustered around the nucleus.

Molecular pathology Defects of

GLRX5 (OMIM:609588), which encodes a mitochondrial protein required for normal iron homeostasis and

SLC25A38  (OMIM:610819), which encodes a protein required during erythropoiesis for haem synthesis, both cause anaemia—sideroblastic—pyridoxine-refractory—autosomal recessive 

References http://www.uniprot.org/uniprot/Q86SX6

http://www.omim.org/entry/205950

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