Overview
X-linked thrombocytopenia with normal platelets (also sometimes called X-linked thrombocytopenia, or XLT with normal platelet size) is a rare inherited blood disorder that mainly affects males. It is caused by changes (mutations) in the GATA1 gene, which sits on the X chromosome. This gene plays a key role in helping the body make healthy blood cells, including platelets — the tiny cells that help your blood clot when you get a cut or injury. In this condition, the number of platelets in the blood is lower than normal (a problem called thrombocytopenia), but unlike some related disorders, the platelets are roughly normal in size. Having too few platelets means the blood does not clot as well as it should, which can lead to easy bruising, prolonged bleeding from minor cuts, and sometimes more serious bleeding episodes. Treatment is focused on managing bleeding symptoms and may include platelet transfusions during surgery or after injury, and careful monitoring by a blood specialist (hematologist). Some patients have mild symptoms and need little treatment, while others may need more active management. Bone marrow transplant has been used in more severe cases. Research into this condition is ongoing, and care is usually tailored to each person's symptoms.
Key symptoms:
Low platelet count in the bloodEasy or unexplained bruisingProlonged bleeding from small cuts or injuriesFrequent nosebleedsBleeding gumsHeavy or prolonged menstrual bleeding (in female carriers who are affected)Small red or purple spots on the skin caused by bleeding under the surface (petechiae)Fatigue related to blood loss in more severe casesIncreased bleeding after surgery or dental procedures
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for X-linked thrombocytopenia with normal platelets.
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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
No travel grants are currently matched to X-linked thrombocytopenia with normal platelets.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How low is my platelet count, and what level would require treatment or hospitalization?,What activities or medications should I avoid because of my condition?,What should I do if I have a serious injury or need surgery?,Should my female relatives be tested to see if they are carriers?,Is bone marrow transplant something I should consider, and what are the risks and benefits?,How often do I need blood count monitoring, and what changes should prompt me to call you right away?,Are there any clinical trials or new treatments I should know about?
Common questions about X-linked thrombocytopenia with normal platelets
What is X-linked thrombocytopenia with normal platelets?
X-linked thrombocytopenia with normal platelets (also sometimes called X-linked thrombocytopenia, or XLT with normal platelet size) is a rare inherited blood disorder that mainly affects males. It is caused by changes (mutations) in the GATA1 gene, which sits on the X chromosome. This gene plays a key role in helping the body make healthy blood cells, including platelets — the tiny cells that help your blood clot when you get a cut or injury. In this condition, the number of platelets in the blood is lower than normal (a problem called thrombocytopenia), but unlike some related disorders, the
How is X-linked thrombocytopenia with normal platelets inherited?
X-linked thrombocytopenia with normal platelets follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does X-linked thrombocytopenia with normal platelets typically begin?
Typical onset of X-linked thrombocytopenia with normal platelets is neonatal. Age of onset can vary across affected individuals.
Which specialists treat X-linked thrombocytopenia with normal platelets?
3 specialists and care centers treating X-linked thrombocytopenia with normal platelets are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.