Thiamine-Responsive Megaloblastic Anemia: Identification of Novel Compound Heterozygotes and Mutation Update
نویسندگان
چکیده
منابع مشابه
Novel mutation in the SLC19A2 gene in Thiamine-responsive megaloblastic anemia (Rogers’ syndrome)
Introduction: The Thiamine Transporter gene SLC19A2 is the only gene known to be associated with TRMA. This syndrome is a trial clinical characterized by megaloblastic anemia, nonautoimmune diabetes mellitus and sensory-neural hearing loss. Methods: Described here are three children from consanguineous Iranian families with thiamine – responsive megaloblastic anemia (TRMA) or Rogers' syndrome....
متن کاملThiamine responsive megaloblastic anemia.
This report describes a female child with thiamine responsive megaloblastic anemia syndrome (Rogers syndrome), presenting with anemia and diabetes mellitus responding to thiamine. She also had retinitis pigmentosa. The anemia improved and blood sugar was controlled with daily oral thiamine. Previously unreported olfactory abnormalities, as described in Wolfram syndrome, were also present in our...
متن کاملthiamine– responsive megaloblastic anemia syndrome
thiamine responsive megaloblastic anemia in didmoa (wolfram) syndrome has an autosomal- recessive mode of inheritance . megaloblastic anemia and sideroblastic anemia is accompanied by diabetes insipidus (di), diabetes mellitus (dm) ,optic atrophy (oa) and deafness (d). neutropenia and thrombocytopenia are also present. we report a 7 month old girl with congenital macrocytic anemia a rare clinic...
متن کاملIdentification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia
Thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive syndrome characterized by early-onset anemia, diabetes, and hearing loss caused by mutations in the SLC19A2 gene. We studied the genetic cause and clinical features of this condition in patients from the Persian population. A clinical and molecular investigation was performed in four patients from three families and their...
متن کاملThiamine responsive megaloblastic anemia with a novel SLC19A2 mutation presenting with myeloid maturational arrest.
To the Editor: Thiamine responsive megaloblastic anemia (TRMA) syndrome is caused by the deficiency of thiamine transporter protein is a triad of diabetes mellitus, anemia, and deafness [1]. The only gene known to be associated with TRMA is SLC19A2, which encodes the high-affinity thiamine transporter [2]. A total of 28 mutations in the SLC19A2 gene have been reported in 70 patients [3]. We rep...
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ژورنال
عنوان ژورنال: The Journal of Pediatrics
سال: 2009
ISSN: 0022-3476
DOI: 10.1016/j.jpeds.2009.06.017