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Thiamine-responsive megaloblastic anemia syndrome
| Content Provider | Semantic Scholar |
|---|---|
| Author | Keskin, Mehmet Kürşad Hızlı, Şamil Uygun, Hatice Dai, Alper I. Gumruk, Fatma |
| Copyright 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. |
| Starting Page | 524 |
| Ending Page | 526 |
| Page Count | 3 |
| File Format | PDF HTM / HTML |
| DOI | 10.1007/s12185-010-0681-y |
| PubMed reference number | 20835854 |
| Journal | Medline |
| Volume Number | 92 |
| Alternate Webpage(s) | https://ghr.nlm.nih.gov/condition/thiamine-responsive-megaloblastic-anemia-syndrome.pdf |
| Alternate Webpage(s) | http://jssu.ssu.ac.ir/article-1-694-en.pdf |
| Alternate Webpage(s) | http://jssu.ssu.ac.ir/article-1-694-en.pdf%20 |
| Alternate Webpage(s) | https://doi.org/10.1007/s12185-010-0681-y |
| Journal | International journal of hematology |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |
