Living with Thrombocytopenia 1
An inherited bleeding condition, mostly in males, with low and small platelets that makes people bruise easily.
Understanding Thrombocytopenia 1
Platelets help blood clot, and in this condition they are also often small. People bruise easily or bleed for a long time after minor injury, and sometimes bleed without injury, including in the brain. Some also have eczema or get more infections. Some people have a milder form with normal platelet numbers at times (intermittent thrombocytopenia).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low platelet count from birth
- Small platelets
- Easy bruising
- Nosebleeds
- Tiny red or purple skin dots (petechiae)
- Eczema
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 WAS 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
This condition is caused by changes in the WAS gene. It is X-linked, which means the gene is on the X chromosome.
Also known as: thrombocytopenia type 1; thrombocytopenia, x-linked, 1; thrombocytopenia, x-linked, intermittent, x-linked recessive; thrombocytopenia, x-linked, x-linked recessive; x-linked thrombocytopenia with normal platelets
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 Thrombocytopenia 1.
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