title: Thiamine-responsive megaloblastic anemia syndrome.
abstract: Thiamine-responsive megaloblastic anemia (TRMA) syndrome usually associated with diabetes mellitus, anemia and deafness, due to mutations in SLC19A2, encoding a thiamine transporter protein. The onset of disease is usually seen during infancy or at early childhood and most of the TRMA patients are originated from consanguineous families. In this case, we report a 5-month-old boy who had diagnosis of TRMA during evaluations for his anemia and thrombocytopenia. The diagnosis of TRMA should be kept in mind in differential diagnosis of megaloblastic anemia especially in the populations where the consanguinity is frequent.
authors.affiliation: Department of Pediatrics, Division of Pediatric Hematology, Gaziantep University, Gaziantep, Turkey. abay1968@yahoo.com
authors.forename: Ali
authors.initials: A
authors.lastname: Bay
authors.forename: Mehmet
authors.initials: M
authors.lastname: Keskin
authors.forename: Samil
authors.initials: S
authors.lastname: Hizli
authors.forename: Hatice
authors.initials: H
authors.lastname: Uygun
authors.forename: Alper
authors.initials: A
authors.lastname: Dai
authors.forename: Fatma
authors.initials: F
authors.lastname: Gumruk
mesh_terms: D000749:Anemia, Megaloblastic / Q000150:complications / Q000175:diagnosis / Q000473:pathology / Q000628:therapy; D016913:Blood Component Transfusion; D001853:Bone Marrow / Q000473:pathology; D003920:Diabetes Mellitus / Q000175:diagnosis / Q000473:pathology / Q000628:therapy; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000175:diagnosis / Q000473:pathology / Q000628:therapy; D006801:Humans; D007223:Infant; D007655:Ketoglutarate Dehydrogenase Complex / Q000172:deficiency; D008297:Male; D013831:Thiamine / Q000627:therapeutic use; D013832:Thiamine Deficiency / Q000151:congenital; D013921:Thrombocytopenia / Q000150:complications*
chemical_list: D007655:Ketoglutarate Dehydrogenase Complex; D013831:Thiamine