Living with Bleeding diathesis due to thromboxane synthesis deficiency
A rare genetic bleeding condition in which platelets don't clump well, causing easy bruising and nosebleeds.
Understanding Bleeding diathesis due to thromboxane synthesis deficiency
It causes mild to moderate bleeding from the skin and linings of the body, the gut, or during surgery. Examples are easy bruising, long nosebleeds, and heavy bleeding after a tooth is pulled.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Nosebleeds
- Easy bruising
- Large bruises (ecchymosis)
- Platelets that do not clump normally
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 TBXA2R 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
Changes in the TBXA2R gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
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 Bleeding diathesis due to thromboxane synthesis deficiency.
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