Living with HNSHA due to aldolase A deficiency
An extremely rare inherited condition causing red blood cell breakdown and sometimes muscle problems or learning challenges.
Understanding HNSHA due to aldolase A deficiency
It causes hemolytic anemia, where red blood cells break down early. Some people also have muscle disease (myopathy) or intellectual disability. Muscle breakdown (rhabdomyolysis) can be triggered by fever or exercise. It may begin in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hemolytic anemia
- Muscle weakness
- Muscle aches (myalgia)
- Muscle breakdown with exercise or fever
- Fever
- Skeletal muscle disease (myopathy)
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 ALDOA 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); Genetic specialists (geneticists)
- 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 ALDOA gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: aldolase a deficiency; glycogen storage disease due to aldolase a deficiency; glycogen storage disease type 12; glycogen storage disease type xii; glycogen storage disease xii; glycogenosis due to aldolase a deficiency
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 HNSHA due to aldolase A deficiency.
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