Overview
Congenital autosomal recessive small-platelet thrombocytopenia is a rare inherited blood disorder present from birth. It is characterized by two main problems: a low number of platelets in the blood (thrombocytopenia) and platelets that are abnormally small in size (small platelets, also called microthrombocytes). Platelets are tiny blood cells that help your blood clot when you have a cut or injury. When platelet numbers are low and the platelets are too small to work properly, the body has trouble stopping bleeding. People with this condition are born with it and usually show signs early in life, sometimes even as newborns. The main symptoms involve bleeding that is harder to control than normal — such as easy bruising, frequent nosebleeds, bleeding gums, and prolonged bleeding from small cuts. In more serious cases, internal bleeding can occur. The condition is caused by changes (mutations) in specific genes that are inherited in an autosomal recessive pattern, meaning a child must inherit a faulty copy of the gene from both parents to develop the disease. Treatment is focused on managing bleeding episodes and preventing complications. Options may include platelet transfusions during serious bleeding events, medications to help reduce bleeding risk, and in some cases bone marrow or stem cell transplantation. The treatment plan depends on how severe the condition is and which specific gene is affected. Regular follow-up with a blood specialist (hematologist) is an important part of care.
Also known as:
Key symptoms:
Low platelet count in the bloodAbnormally small plateletsEasy or unexplained bruisingFrequent or prolonged nosebleedsBleeding gumsCuts that take a long time to stop bleedingTiny red or purple spots on the skin (petechiae) caused by minor bleeding under the skinHeavy or prolonged menstrual bleeding in femalesPossible internal bleeding in severe casesFatigue related to blood loss
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 Congenital autosomal recessive small-platelet thrombocytopenia.
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Specialists
View all specialists →No specialists are currently listed for Congenital autosomal recessive small-platelet thrombocytopenia.
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 Congenital autosomal recessive small-platelet thrombocytopenia.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.Which specific gene mutation is causing my (or my child's) condition, and how does that affect treatment options?,What platelet count level should prompt me to seek emergency care?,Is stem cell transplantation an option for us, and what are the risks and benefits?,What activities or medications should be avoided to reduce bleeding risk?,How often do we need blood tests and specialist check-ups?,Are there any clinical trials or new treatments we should know about?,Should other family members be tested to see if they are carriers?
Common questions about Congenital autosomal recessive small-platelet thrombocytopenia
What is Congenital autosomal recessive small-platelet thrombocytopenia?
Congenital autosomal recessive small-platelet thrombocytopenia is a rare inherited blood disorder present from birth. It is characterized by two main problems: a low number of platelets in the blood (thrombocytopenia) and platelets that are abnormally small in size (small platelets, also called microthrombocytes). Platelets are tiny blood cells that help your blood clot when you have a cut or injury. When platelet numbers are low and the platelets are too small to work properly, the body has trouble stopping bleeding. People with this condition are born with it and usually show signs early in
How is Congenital autosomal recessive small-platelet thrombocytopenia inherited?
Congenital autosomal recessive small-platelet thrombocytopenia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital autosomal recessive small-platelet thrombocytopenia typically begin?
Typical onset of Congenital autosomal recessive small-platelet thrombocytopenia is neonatal. Age of onset can vary across affected individuals.