Living with Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
A genetic condition present from birth with slow development, intellectual disability, and continued fetal hemoglobin.
Understanding Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
People may have intellectual disability and fetal hemoglobin that stays in the body. The fetal hemoglobin itself causes no symptoms. Features can include a smaller head, downward-slanting eyes, crossed eyes, and differently shaped ears. Walking and coordination can be affected. Most people have it because of a new gene change (de novo).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development
- Intellectual disability
- Small head (microcephaly)
- Delayed walking
- Crossed eyes (strabismus)
- Sleep problems
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 BCL11A 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 Simons Searchlight
- 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 a change in the BCL11A gene. It is autosomal dominant, so one changed copy of the gene is enough. Most people have a new change that was not inherited.
Also known as: dias-logan syndrome
Patient organizations
- Simons SearchlightHereditary persistence of fetal hemoglobin-intellectual disability syndrome · United States
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