Living with Thrombocytopenia 6
A rare genetic condition with low platelets and easy bleeding, plus scarring in the bone marrow and an enlarged spleen.
Understanding Thrombocytopenia 6
It also involves scarring of the bone marrow (myelofibrosis) and an enlarged spleen. Bleeding can show up as nosebleeds, heavy periods, and small red or purple skin dots. Some people have mild bone differences and facial features such as a large forehead, wide-set eyes, and deep-set eyes. It starts in the newborn period.
Signs & symptoms
GARD lists few specific symptoms for this condition, so these come from the summary:
- Low platelet count (thrombocytopenia)
- Nosebleeds
- Heavy menstrual periods
- Small red or purple skin dots (petechiae)
- Enlarged spleen
- Thin bones (osteoporosis)
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, cancer specialists and genetic specialists.
- 3Consider genetic testing
Changes in SRC 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); Cancer specialists (oncologists); 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 Blood Cancer United and other patient organizations
- 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
This condition is caused by changes in the SRC gene. It is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: hereditary thrombocytopenia with early-onset myelofibrosis; thc6; thrombocytopenia type 6; thrombocytopenia, autosomal dominant, 6
Patient organizations
- Blood Cancer UnitedBlood or bone marrow disease · United States
- HealthTree FoundationBlood or bone marrow disease · United States
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