Living with Alpha thalassemia-intellectual disability syndrome type 1
A rare condition from a missing piece of DNA, with a mild form of alpha thalassemia and developmental differences.
Understanding Alpha thalassemia-intellectual disability syndrome type 1
It is a contiguous gene deletion syndrome, which means a piece of DNA containing several genes is missing. Blood tests show small, pale red blood cells, with a normal hemoglobin level or mild anemia. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Speech differences
- Small head size (microcephaly)
- Broad forehead
- Easy bruising
- Club feet
- Small or missing earlobes
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.
- 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); 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 Chromosome Disorder Outreach
- 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 describes a contiguous gene deletion, meaning a missing piece of DNA that holds several genes. It lists autosomal dominant inheritance.
Also known as: alpha thalassemia intellectual disability syndrome, deletion type; alpha thalassemia-intellectual disability syndrome; alpha thalassemia-intellectual disability syndrome, deletion type; alpha thalassemia-retardation syndrome; alpha-thalassemia intellectual disability syndrome linked to chromosome 16; alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
Broader rare-disease groups
- 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 Alpha thalassemia-intellectual disability syndrome type 1.
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