Living with Hereditary methemoglobinemia
An inherited blood condition that causes a bluish tint to the skin and lips early in life.
Understanding Hereditary methemoglobinemia
It shows early in life, with no signs of heart or lung disease. It is caused by a missing enzyme (NADH methemoglobin reductase) or by an abnormal hemoglobin called hemoglobin M. Some people also have nervous system problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bluish skin (cyanosis)
- Bluish or discolored lips
- Nail changes
- Shortness of breath with exertion
- Nervous system problems
- Methemoglobin in the blood
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, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in CYB5R3 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); Brain and nervous system specialists (neurologists); 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 CYB5R3 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive methemoglobinemia; congenital methemoglobinemia
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 Hereditary methemoglobinemia.
Explore research for Hereditary methemoglobinemia
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