Living with Hemolytic anemia due to hexokinase deficiency
A very rare inherited blood condition with severe, long-term anemia starting in infancy.
Understanding Hemolytic anemia due to hexokinase deficiency
GARD says about 20 cases have been described. The signs are very similar to pyruvate kinase deficiency, but the anemia is generally more severe. Some people also had other differences, including multiple malformations, bone marrow problems (panmyelopathy), and latent diabetes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Anemia from red blood cell breakdown
- Yellowing of skin and eyes (jaundice)
- Enlarged spleen
- Gallstones
- Gallbladder inflammation
- More young red blood cells (reticulocytosis)
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 HK1 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 can be caused by changes in the HK1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: anemia, congenital, nonspherocytic hemolytic, 5; anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient; cnsha5; hemolytic anaemia due to hexokinase deficiency; hemolytic anemia, nonspherocytic, due to hexokinase deficiency; hexokinase deficiency hemolytic anemia
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 hexokinase deficiency.
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