thiamine-responsive megaloblastic anaemia syndrome

(redirected from THMD1)

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.