Living with Hemoglobin M disease
An inherited blood condition that gives the skin, lips, and nails a bluish tint, usually without other health problems.
Understanding Hemoglobin M disease
People have an abnormal form of hemoglobin called methemoglobin, which cannot deliver oxygen to the body's tissues as well as normal hemoglobin. It turns the blood brown and gives the skin, lips, and nails a bluish look (cyanosis), usually first seen around 6 months of age. The cyanosis does not usually cause health problems.
Signs & symptoms
Symptoms vary from person to person. GARD describes these signs:
- Bluish skin, lips, and nails (cyanosis)
- Brown-colored blood
- Headaches, in rare severe cases
- Weakness, in rare severe cases
- Tiredness, in rare severe cases
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 HBB 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 HBB gene. It is autosomal dominant, so one changed copy of the gene is enough to cause it.
Also known as: hereditary m hemoglobinopathy; hereditary methemoglobinemia due to globin chain mutation; hereditary methemoglobinuria; m hemoglobinopathy; methemoglobinemia, beta type
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 Hemoglobin M disease.
Explore research for Hemoglobin M disease
Explore actively recruiting Hemoglobin M disease studies with HealthSpark.
Find actively recruiting studies for Hemoglobin M disease 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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