Why does Aase syndrome happen?
Last updated September 6, 2026.
**Aase syndrome can result from gene changes that disrupt blood cell production and development, but the exact cause is not always identified.** Aase syndrome is considered part of Diamond-Blackfan anemia, a condition involving too few red blood cells and sometimes differences in bones or joints. Many associated genes help your cells make proteins through structures called ribosomes. Gene changes can be inherited or arise for the first time, so having no family history does not rule it out. If your child has this diagnosis, a clinician or genetic counselor can explain testing and what the findings mean for your family.
What to do
- **Gather family history:** Tell your clinician about relatives with anemia or differences in their thumbs or other bones.
- **Ask about evaluation:** Discuss whether your child needs blood counts and an assessment by a blood specialist.
- **Discuss genetic testing:** Ask your clinician what testing could explain and what an inconclusive result would mean.
- **Plan for pregnancy:** If Aase syndrome runs in your family, seek genetic counseling before pregnancy.