Living with Gray platelet syndrome
A bleeding disorder with abnormal platelets, causing easy bruising, nosebleeds, and bone marrow scarring.
Understanding Gray platelet syndrome
People tend to bruise easily and have more nosebleeds, and may bleed heavily or for a long time after surgery, dental work, or minor injury. Women often have irregular, heavy periods. These bleeding problems are usually mild to moderate. Another common feature is myelofibrosis, scarring in the bone marrow that keeps it from making enough blood cells and can lead to an enlarged spleen. It is usually noticed in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Easy bruising
- Frequent nosebleeds
- Abnormal bleeding after surgery or dental work
- Heavy, irregular periods
- Enlarged spleen
- Low platelet count
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists and genetic specialists.
- 3Consider genetic testing
Changes in NBEAL2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Platelet Disorder Support Association
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the NBEAL2 gene cause this condition. GARD lists both autosomal recessive and autosomal dominant inheritance.
Also known as: alpha storage pool deficiency; bdplt4; bleeding disorder, platelet-type, 4; deficient alpha granule syndrome; gps; platelet alpha granule deficiency
Patient organizations
- Platelet Disorder Support AssociationGray platelet syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Gray platelet syndrome.
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