Living with Deficiency of bisphosphoglycerate mutase
A rare condition affecting red blood cells and the spleen, in which the body destroys red blood cells too early.
Understanding Deficiency of bisphosphoglycerate mutase
The body destroys healthy red blood cells before it can make new ones. This is called hemolytic anemia. Symptoms and severity differ from person to person. GARD lists onset in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD's summary lists these possible signs of hemolytic anemia:
- Enlarged spleen
- Pale skin
- Yellowing of skin and eyes (jaundice)
- Dark urine
- Weakness and dizziness
- Fast heart rate and heart murmur
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 BPGM 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 BPGM gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: bpgm deficiency; deficiency of bisphosphoglycerate synthase; deficiency of diphosphoglycerate mutase; deficiency of glycerate phosphomutase; diphosphoglycerate mutase deficiency of erythrocyte; diphosphoglycerate phosphatase 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 Deficiency of bisphosphoglycerate mutase.
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