Thiamine responsive megaloblastic anemia syndrome
| Thiamine responsive megaloblastic anemia syndrome | |
|---|---|
SLC19A2 gene mutation[1] | |
| Treatment | Thiamine |
Thiamine responsive megaloblastic anemia syndrome (also known as Rogers syndrome) is a very rare
diabetes mellitus, and hearing loss. The condition is treated with high doses of thiamine
(vitamin B1).
Signs and symptoms
In most cases (80-99%), people with this condition experience
optic atrophy, short stature, enlarged liver, and an enlarged spleen.[2] Some cases may affect the heart, leading to abnormal heart rhythms.[3]
Genetics
The condition is inherited in an
SLC19A2 gene.[1]
Diagnosis
![[icon]](/File:Wiki_letter_w_cropped.svg){kind=small} | This section is empty. You can help by adding to it. (October 2021) |
Treatment
Treatment consists of high doses of oral thiamine. Treatment can delay the onset of diabetes mellitus, and reverses anemia. If treatment is initiated early, thiamine deficiency can be prevented.[citation needed]
History
The condition was first described in 1969 by Dr. Lon E. Rogers, a pediatric hematologist in Dallas, Texas.[citation needed]
References
- ^ a b c "Thiamine responsive megaloblastic anemia syndrome". Genetic and Rare Diseases Information Center. National Center for Advancing Translational Science.
- S2CID 35313931. Archived from the original(PDF) on April 9, 2018.
- ^ "Thiamine-responsive megaloblastic anemia syndrome". Genetics Home Reference. US National Library of Medicine.