Living with Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
A rare inherited blood condition, usually mild, in which fetal hemoglobin offsets sickle hemoglobin.
Understanding Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
People have high fetal hemoglobin (HbF) along with sickle hemoglobin (HbS), and mildly small, pale red blood cells. Some people had sickle cell attacks such as acute chest syndrome and pain crises. Symptoms depend on how much HbF is in the blood cells. People with more than 35% HbF in all cells had no symptoms.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fetal hemoglobin that persists
- Sickle hemoglobin (HbS) in the blood
- Mild anemia
- Belly pain, less often
- Enlarged spleen, less often
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 recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hereditary persistence of fetal hemoglobin with sickle cell disease syndrome; hpfh-sickle cell disease 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
You are more than your diagnosis
Perspectives from people navigating life with Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome.
Explore research for Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
Explore actively recruiting Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome studies with HealthSpark.
Find actively recruiting studies for Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.