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Thiamine-responsive megaloblastic anemia syndrome
- Source :
- International journal of hematology. 92(3)
- Publication Year :
- 2010
-
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.
- Subjects :
- Male
Pediatrics
medicine.medical_specialty
Anemia, Megaloblastic
Anemia
Hearing Loss, Sensorineural
Blood Component Transfusion
Consanguinity
Disease
Bone Marrow
hemic and lymphatic diseases
Diabetes mellitus
Thiamine transporter
Diabetes Mellitus
Medicine
Humans
Ketoglutarate Dehydrogenase Complex
Thiamine
Megaloblastic anemia
biology
business.industry
Infant
Thiamine Deficiency
Hematology
medicine.disease
Thrombocytopenia
Immunology
SLC19A2
biology.protein
Differential diagnosis
business
Subjects
Details
- ISSN :
- 18653774
- Volume :
- 92
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- International journal of hematology
- Accession number :
- edsair.doi.dedup.....5c4d1c2336c3458d8ec0336dc194ad97