Living with Hemolytic anemia due to adenylate kinase deficiency
A rare inherited blood condition in which red blood cells break down early, causing long-term anemia.
Understanding Hemolytic anemia due to adenylate kinase deficiency
The anemia is long-lasting and ranges from moderate to severe. Some people need regular blood transfusions or surgery to remove the spleen (splenectomy). Some also have delays in movement and thinking skills (psychomotor impairment). It starts between birth and childhood.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on the summary, it can include:
- Long-lasting anemia from red blood cell breakdown
- Need for regular blood transfusions in some people
- Delays in movement and thinking skills in some people
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 AK1 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
It is caused by changes in the AK1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: adenylate kinase deficiency, hemolytic anaemia due to; adenylate kinase deficiency, hemolytic anemia due to; anemia, congenital, nonspherocytic hemolytic, 3; cnsha3
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 Hemolytic anemia due to adenylate kinase deficiency.
Explore research for Hemolytic anemia due to adenylate kinase deficiency
Explore actively recruiting Hemolytic anemia due to adenylate kinase deficiency studies with HealthSpark.
Find actively recruiting studies for Hemolytic anemia due to adenylate kinase deficiency 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 Hemolytic anemia due to adenylate kinase deficiency 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 Hemolytic anemia due to adenylate kinase deficiency
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 Hemolytic anemia due to adenylate kinase deficiency 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.