THIAMINE RESPONSIVE MEGALOBLASTIC ANAEMIA

SLC19A2 GENE ANALYSIS IN THIAMINE RESPONSIVE MEGALOBLASTIC ANAEMIA

Thiamine responsive megaloblastic anaemia (TRMA), also known as Roger’s Syndrome is a rare autosomal recessive disorder characterised by early onset megaloblastic anaemia, diabetes mellitus and sensorineural deafness. Patients present with a non-autoimmune insulin deficient diabetes mellitus, sensorineural deafness and a variable anaemia in the first 5 years of life, the anaemia progressing to megaloblastic and sideroblastic changes in the bone marrow. The anaemia and diabetes respond to oral thiamine hydrocholoride but during puberty, thiamine supplements become ineffective and almost all patients require insulin therapy and regular blood transfusions in adulthood. Cardiovascular abnormalities, including sudden death, stroke, high-output heart failure, paroxysmal atrial tachycardia, and congenital heart defects have been observed in a few cases. Optic atrophy and tri-lineage myelodysplasia are additional reported features.

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