thiamine-responsive megaloblastic anaemia syndrome

(redirected from Rogers syndrome)

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.
Mentioned in ?
References in periodicals archive ?
DISCUSSION: Thiamine responsive megaloblastic anemia (TRMA), also known as Rogers syndrome, is an autosomal recessive disorder, that was described in 1969.
Lack of plasma membrane targeting of a G172D mutant thiamine transporter derived from Rogers syndrome family.
Weaknesses: Beantown flatulence, the cobblestone blues, tea parties, Post Traumatic Jereme Rogers Syndrome, snooty Harvard grads