Living with Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
A rare inherited condition with a type of anemia that responds to vitamin B1, plus diabetes and hearing loss.
Understanding Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
In megaloblastic anemia there are few red blood cells and they are larger than normal. It usually develops between infancy and adolescence. The anemia can be treated with daily vitamin B1 (thiamine). Hearing loss usually starts in early childhood and tends to worsen. Diabetes often begins early, and insulin is usually needed. Some people have eye differences such as optic atrophy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Megaloblastic anemia
- Hearing loss from the inner ear
- Diabetes
- Paleness and low energy
- Headache and poor appetite
- Tingling or numbness in the hands and feet
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists, ear, nose, and throat specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in SLC19A2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the SLC19A2 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: rogers syndrome; thiamine metabolism dysfunction syndrome 1; thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type); thiamine-responsive anaemia syndrome; thiamine-responsive anemia syndrome; thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness.
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