Living with Beta-thalassemia-X-linked thrombocytopenia syndrome
A blood condition combining mild beta thalassemia with low platelets, causing easy bleeding.
Understanding Beta-thalassemia-X-linked thrombocytopenia syndrome
Features include an enlarged spleen, tiny red spots on the skin (petechiae), moderate low platelet counts (thrombocytopenia), and platelets that do not work well, so bleeding lasts longer. The beta thalassemia part is mild.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low platelet count (thrombocytopenia)
- Easy or long bleeding
- Platelets that do not work well
- Enlarged spleen
- Low red blood cells (anemia)
- Abnormal hemoglobin
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 GATA1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Cooley's Anemia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Cooley's Anemia Foundation
- 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 Cooley's Anemia Foundation
- 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 GATA1 gene cause this condition. It is inherited in an X-linked way.
Also known as: beta thalassemia x-linked thrombocytopenia syndrome; thrombocytopenia with beta-thalassemia, x-linked; thrombocytopenia with beta-thalassemia, x-linked, x-linked recessive; x-linked thrombocytopenia with beta-thalassemia; xltt
Patient organizations
- Cooley's Anemia FoundationBeta-thalassemia-X-linked thrombocytopenia syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Beta-thalassemia-X-linked thrombocytopenia syndrome.
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