Living with Thrombocytopenia with congenital dyserythropoietic anemia
A rare blood condition, almost always in males, with low platelets, bleeding, and sometimes anemia.
Understanding Thrombocytopenia with congenital dyserythropoietic anemia
The thrombocytopenia is moderate to severe, and the anemia, when present, can be mild to severe. It affects almost only males. It is noticed in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low platelet count with large platelets (macrothrombocytopenia)
- Anemia from poor red blood cell production
- Pale, small red blood cells (hypochromic anemia)
- Red blood cells of different sizes
- Bleeding
- Undescended testes (cryptorchidism)
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.
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 Platelet Disorder Support Association
- 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 GATA1 gene. It is X-linked, which means the gene is on the X chromosome.
Also known as: congenital dyserythropoietic anaemia with thombocytopenia; congenital dyserythropoietic anemia with thombocytopenia; x-linked congenital dyserythropoietic anaemia with thrombocytopenia; x-linked congenital dyserythropoietic anemia with thrombocytopenia; xdat
Patient organizations
- Platelet Disorder Support AssociationThrombocytopenia with congenital dyserythropoietic anemia · United States
You are more than your diagnosis
Perspectives from people navigating life with Thrombocytopenia with congenital dyserythropoietic anemia.
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