Living with Autosomal dominant aplasia and myelodysplasia
A rare inherited blood condition in which the bone marrow does not make enough blood cells, along with hearing problems.
Understanding Autosomal dominant aplasia and myelodysplasia
Bone marrow failure can show up as aplastic anemia and/or myelodysplasia (blood cells that don't develop normally). Hearing and ear problems, such as deafness, also occur. It starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bone marrow failure
- Low blood cell counts (pancytopenia)
- Myelodysplasia
- Hearing loss from the inner ear
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 and genetic specialists.
- 3Consider genetic testing
Changes in SRP72 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Aplastic Anemia and MDS International Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Aplastic Anemia and MDS International Foundation
- 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 Aplastic Anemia and MDS International Foundation
- 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
GARD says changes in the SRP72 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: autosomal dominant aplastic anaemia and myelodysplasia; autosomal dominant aplastic anemia and myelodysplasia; bone marrow failure syndrome 1; bone marrow failure syndrome type 1
Patient organizations
- Aplastic Anemia and MDS International FoundationAutosomal dominant aplasia and myelodysplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal dominant aplasia and myelodysplasia.
Explore research for Autosomal dominant aplasia and myelodysplasia
Explore actively recruiting Autosomal dominant aplasia and myelodysplasia studies with HealthSpark.
Find actively recruiting studies for Autosomal dominant aplasia and myelodysplasia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Autosomal dominant aplasia and myelodysplasia studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Autosomal dominant aplasia and myelodysplasia
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Autosomal dominant aplasia and myelodysplasia experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.