Overview
Thrombocytopenia with congenital dyserythropoietic anemia (also sometimes called GATA1-related thrombocytopenia with dyserythropoietic anemia) is a rare inherited blood disorder that affects two important parts of the blood-making process. 'Thrombocytopenia' means there are too few platelets — the tiny cells that help blood clot after a cut or injury. 'Congenital dyserythropoietic anemia' means the body has trouble making healthy red blood cells from birth, leading to anemia (low red blood cell counts). Both problems happen because the bone marrow, which is the factory inside your bones that makes blood cells, does not work correctly. People with this condition are typically diagnosed in infancy or early childhood. Common symptoms include easy bruising, bleeding that is hard to stop, pale skin, tiredness, and a swollen spleen or liver. Because red blood cells are abnormally shaped and break down too quickly, the body struggles to carry enough oxygen to tissues, causing fatigue and weakness. Treatment focuses on managing symptoms. Blood or platelet transfusions may be needed during bleeding episodes or surgery. Some patients require regular red blood cell transfusions to manage anemia. In selected cases, stem cell transplantation has been explored as a potentially curative option. Close monitoring by a hematologist is essential throughout life.
Also known as:
Key symptoms:
Low platelet count (thrombocytopenia)Easy bruisingProlonged or excessive bleeding from cuts or injuriesAnemia (low red blood cell count)Pale or yellowish skinFatigue and low energyEnlarged spleen (splenomegaly)Enlarged liver (hepatomegaly)Abnormally shaped red blood cells seen on blood testsJaundice (yellowing of the skin or eyes) in some casesSlow growth or failure to thrive in infants
Clinical phenotype terms (9)— hover any for plain English
X-linked dominant
Carried on the X chromosome; a single copy can cause the condition
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Thrombocytopenia with congenital dyserythropoietic anemia.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's condition, and what does that mean for their long-term health?,How often will we need blood tests and transfusions, and what triggers the need for one?,Is my child a candidate for stem cell transplantation, and what are the risks and benefits?,Should other family members be tested for the GATA1 mutation?,What activities or sports should my child avoid because of bleeding risk?,How do we monitor and manage iron overload from transfusions?,Are there any clinical trials or new treatments we should consider?
Common questions about Thrombocytopenia with congenital dyserythropoietic anemia
What is Thrombocytopenia with congenital dyserythropoietic anemia?
Thrombocytopenia with congenital dyserythropoietic anemia (also sometimes called GATA1-related thrombocytopenia with dyserythropoietic anemia) is a rare inherited blood disorder that affects two important parts of the blood-making process. 'Thrombocytopenia' means there are too few platelets — the tiny cells that help blood clot after a cut or injury. 'Congenital dyserythropoietic anemia' means the body has trouble making healthy red blood cells from birth, leading to anemia (low red blood cell counts). Both problems happen because the bone marrow, which is the factory inside your bones that m
How is Thrombocytopenia with congenital dyserythropoietic anemia inherited?
Thrombocytopenia with congenital dyserythropoietic anemia follows a x-linked dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Thrombocytopenia with congenital dyserythropoietic anemia typically begin?
Typical onset of Thrombocytopenia with congenital dyserythropoietic anemia is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Thrombocytopenia with congenital dyserythropoietic anemia?
1 specialists and care centers treating Thrombocytopenia with congenital dyserythropoietic anemia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.