thiamine-responsive megaloblastic anaemia syndrome

(redirected from megaloblastic anaemia, thiamine-responsive, with diabetes mellitus and)

thiamine-responsive megaloblastic anaemia syndrome

An autosomal recessive disorder (OMIM:249270) characterised by megaloblastic anaemia, mild thrombocytopaenia and leukopaenia, sensorineural deafness, and diabetes mellitus.

Molecular pathology
Defects of SLC19A2, which encodes a high-affinity thiamine transporter, cause thiamine-responsive megaloblastic anaemia.
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