Overview
Severe autosomal recessive macrothrombocytopenia is a very rare inherited blood disorder that affects the platelets — the tiny blood cells that help your blood clot and stop bleeding. In this condition, the body produces platelets that are abnormally large (called macrothrombocytes or giant platelets) and far fewer in number than normal (thrombocytopenia). Because platelets play a critical role in preventing and stopping bleeding, people with this condition are at increased risk of excessive or prolonged bleeding, even from minor injuries. Symptoms typically appear early in life and can include easy bruising, frequent nosebleeds, bleeding from the gums, and prolonged bleeding after cuts or surgical procedures. In more severe cases, internal bleeding can occur, which may be dangerous. The severity of symptoms can vary from person to person, but because the platelet count is often very low, the bleeding tendency can be significant. Because this is such a rare condition, treatment options are limited and mainly focus on managing and preventing bleeding episodes. Platelet transfusions may be given during severe bleeding or before surgery. There is currently no widely available cure, though bone marrow or stem cell transplantation may be considered in very severe cases. Ongoing monitoring by a hematologist is essential to manage the condition effectively.
Key symptoms:
Easy bruisingFrequent nosebleedsBleeding gumsProlonged bleeding after cuts or injuriesHeavy or prolonged menstrual periods in womenTiny red or purple spots on the skin (petechiae)Larger areas of purple discoloration on the skin (purpura)Excessive bleeding after dental work or surgeryBlood in the stool or urineFatigue due to blood lossAbnormally large platelets seen on blood testsVery low platelet count
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Severe autosomal recessive macrothrombocytopenia.
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Specialists
View all specialists →No specialists are currently listed for Severe autosomal recessive macrothrombocytopenia.
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 Severe autosomal recessive macrothrombocytopenia.
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Caregiver Resources
NORD Caregiver Resources
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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 severe is my (or my child's) platelet deficiency, and what does that mean for daily life?,What activities should be avoided to reduce the risk of bleeding?,When should I seek emergency care for a bleeding episode?,Are there medications I should always avoid?,Should genetic testing be done for other family members?,Is bone marrow transplantation an option in our case, and what are the risks?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Severe autosomal recessive macrothrombocytopenia
What is Severe autosomal recessive macrothrombocytopenia?
Severe autosomal recessive macrothrombocytopenia is a very rare inherited blood disorder that affects the platelets — the tiny blood cells that help your blood clot and stop bleeding. In this condition, the body produces platelets that are abnormally large (called macrothrombocytes or giant platelets) and far fewer in number than normal (thrombocytopenia). Because platelets play a critical role in preventing and stopping bleeding, people with this condition are at increased risk of excessive or prolonged bleeding, even from minor injuries. Symptoms typically appear early in life and can inclu
How is Severe autosomal recessive macrothrombocytopenia inherited?
Severe autosomal recessive macrothrombocytopenia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Severe autosomal recessive macrothrombocytopenia typically begin?
Typical onset of Severe autosomal recessive macrothrombocytopenia is neonatal. Age of onset can vary across affected individuals.