Living with Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
An inherited blood condition with high levels of fetal hemoglobin and anemia, starting in childhood.
Understanding Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
Fetal hemoglobin is the type of hemoglobin made before birth. In this condition it stays high, with more red blood cells containing it. People can have anemia, pale skin, and an enlarged spleen or liver. It begins in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Anemia
- Pale skin
- Enlarged spleen
- Enlarged liver
- Differences in bone structure
- Fetal hemoglobin that persists
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
GARD says changes in genes (also called variants) cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: hereditary persistence of fetal hemoglobin thalassemia; hpfh (hereditary persistence of fetal hemoglobin) beta-thalassemia syndrome; hpfh-beta-thalassemia syndrome
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
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Perspectives from people navigating life with Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome.
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