An extremely rare case of Rogers syndrome or thiamine responsive megaloblastic anemia
Rogers syndrome is an extremely rare autosomal recessive syndrome of which only 100 cases are known worldwide. It is characterized by thiamine-responsive megaloblastic anaemia, diabetes mellitus and sensorineural deafness. It results from the deficiency of a thiamine transporter protein. We herein r...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2025-01-01
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| Series: | Indian Journal of Pathology and Microbiology |
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| Online Access: | https://journals.lww.com/10.4103/ijpm.ijpm_287_23 |
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| author | Gurpreet Kaur Ankur Ahuja Arijit Sen Paresh Singhal Renjith Verghese |
| author_facet | Gurpreet Kaur Ankur Ahuja Arijit Sen Paresh Singhal Renjith Verghese |
| author_sort | Gurpreet Kaur |
| collection | DOAJ |
| description | Rogers syndrome is an extremely rare autosomal recessive syndrome of which only 100 cases are known worldwide. It is characterized by thiamine-responsive megaloblastic anaemia, diabetes mellitus and sensorineural deafness. It results from the deficiency of a thiamine transporter protein. We herein report a 16-year-old Indian male referred to our centre with complaints of refractory anaemia, deafness, diabetes pulmonary arterial hypertension and tricuspid regurgitation. Based on the clinical features and haematologic picture and dramatic response of anaemia to thiamine therapy the possibility of a TRMA was considered. Sequencing analysis for TRMA revealed a homozygous c.242dup (p.Tyr81Ter) mutation of the SLC19A2 gene. |
| format | Article |
| id | doaj-art-3082fc36280d4318a1cc2973bea2e724 |
| institution | DOAJ |
| issn | 0377-4929 0974-5130 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Pathology and Microbiology |
| spelling | doaj-art-3082fc36280d4318a1cc2973bea2e7242025-08-20T03:08:48ZengWolters Kluwer Medknow PublicationsIndian Journal of Pathology and Microbiology0377-49290974-51302025-01-0168115816010.4103/ijpm.ijpm_287_23An extremely rare case of Rogers syndrome or thiamine responsive megaloblastic anemiaGurpreet KaurAnkur AhujaArijit SenParesh SinghalRenjith VergheseRogers syndrome is an extremely rare autosomal recessive syndrome of which only 100 cases are known worldwide. It is characterized by thiamine-responsive megaloblastic anaemia, diabetes mellitus and sensorineural deafness. It results from the deficiency of a thiamine transporter protein. We herein report a 16-year-old Indian male referred to our centre with complaints of refractory anaemia, deafness, diabetes pulmonary arterial hypertension and tricuspid regurgitation. Based on the clinical features and haematologic picture and dramatic response of anaemia to thiamine therapy the possibility of a TRMA was considered. Sequencing analysis for TRMA revealed a homozygous c.242dup (p.Tyr81Ter) mutation of the SLC19A2 gene.https://journals.lww.com/10.4103/ijpm.ijpm_287_23rogers syndromeslc19a2thiamine-responsive megaloblastic |
| spellingShingle | Gurpreet Kaur Ankur Ahuja Arijit Sen Paresh Singhal Renjith Verghese An extremely rare case of Rogers syndrome or thiamine responsive megaloblastic anemia Indian Journal of Pathology and Microbiology rogers syndrome slc19a2 thiamine-responsive megaloblastic |
| title | An extremely rare case of Rogers syndrome or thiamine responsive megaloblastic anemia |
| title_full | An extremely rare case of Rogers syndrome or thiamine responsive megaloblastic anemia |
| title_fullStr | An extremely rare case of Rogers syndrome or thiamine responsive megaloblastic anemia |
| title_full_unstemmed | An extremely rare case of Rogers syndrome or thiamine responsive megaloblastic anemia |
| title_short | An extremely rare case of Rogers syndrome or thiamine responsive megaloblastic anemia |
| title_sort | extremely rare case of rogers syndrome or thiamine responsive megaloblastic anemia |
| topic | rogers syndrome slc19a2 thiamine-responsive megaloblastic |
| url | https://journals.lww.com/10.4103/ijpm.ijpm_287_23 |
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