Alpha delta granule deficiency

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ORPHA:734OMIM:185050D69.1
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Overview

Alpha delta granule deficiency is a rare inherited blood disorder that affects tiny structures inside platelets called alpha granules and delta granules (also known as dense granules). Platelets are small blood cells that help your body stop bleeding by clumping together to form a clot. In this condition, both types of storage granules are either missing or not working properly, which means platelets cannot release the chemical signals needed to form a strong blood clot. This is sometimes called combined alpha-delta storage pool deficiency or alpha-delta SPD. The main effect of this condition is that the blood takes longer than normal to clot. People with alpha delta granule deficiency tend to bruise easily, have nosebleeds that are hard to stop, bleed heavily during or after surgery, and experience prolonged bleeding from cuts or dental procedures. Women may have very heavy menstrual periods. The bleeding is usually not life-threatening in everyday situations, but it can become serious during surgery, childbirth, or after a major injury. Treatment focuses on managing bleeding episodes rather than curing the underlying problem. Options include medications like desmopressin (DDAVP) to temporarily boost platelet function, antifibrinolytic drugs such as tranexamic acid to help clots stay in place, and platelet transfusions for more serious bleeding. There is currently no cure for this condition, but with careful planning and the right medical support, most people can live a relatively normal life.

Also known as:

Key symptoms:

Easy bruisingFrequent or prolonged nosebleedsHeavy or prolonged menstrual bleeding in womenBleeding that is hard to stop after cuts or injuriesExcessive bleeding during or after surgery or dental proceduresProlonged bleeding after childbirthSmall red or purple spots on the skin caused by minor bleeding (petechiae)Bleeding into joints or muscles in more severe cases

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Alpha delta granule deficiency.

View clinical trials →

No actively recruiting trials found for Alpha delta granule deficiency at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Alpha delta granule deficiency community →

No specialists are currently listed for Alpha delta granule deficiency.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Alpha delta granule deficiency.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Alpha delta granule deficiency

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A person who used to work as a nutrition counselor shares what it's really like to have a good day while living with AATD (alpha-1 antitrypsin deficiency). The
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A patient with AATD (alpha-1 antitrypsin deficiency) is raising awareness that doctors aren't talking enough with their patients about air trapping—a condition
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AATD and the Importance of Having Fun
When you have a rare disease like Alpha-1 Antitrypsin Deficiency (AATD), taking care of your mental health is just as important as managing your physical sympto
See all news about Alpha delta granule deficiency

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.What specific tests confirmed my diagnosis, and should other family members be tested?,Which medications or supplements should I completely avoid because they could worsen my bleeding?,What should I do — and who should I call — if I have a serious bleeding episode?,Do I need to take any medication before dental work, surgery, or other procedures?,Are there any activities or sports I should avoid?,If I am planning a pregnancy, what special precautions do I need to take?,Should I have genetic testing, and what might the results mean for my family?

Common questions about Alpha delta granule deficiency

What is Alpha delta granule deficiency?

Alpha delta granule deficiency is a rare inherited blood disorder that affects tiny structures inside platelets called alpha granules and delta granules (also known as dense granules). Platelets are small blood cells that help your body stop bleeding by clumping together to form a clot. In this condition, both types of storage granules are either missing or not working properly, which means platelets cannot release the chemical signals needed to form a strong blood clot. This is sometimes called combined alpha-delta storage pool deficiency or alpha-delta SPD. The main effect of this condition

How is Alpha delta granule deficiency inherited?

Alpha delta granule deficiency follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.