MPL-Related Hereditary Thrombocythaemia

A(z) condition ismertetése

An inherited condition in which the body makes too many platelets, which can raise the risk of blood clots or, less often, bleeding. It is caused by a change in one copy of the MPL gene, the receptor for the platelet-making hormone thrombopoietin.

Hereditary thrombocythaemia is an inherited condition in which the bone marrow makes too many platelets, the blood cells that help blood to clot. Raised platelet counts are often found on a routine blood test. Some people have clots, headaches or other circulation symptoms, and an enlarged spleen can occur. Less often there is bleeding, or scarring of the bone marrow.

It is caused by a change in one copy of the MPL gene, which makes the receptor for thrombopoietin, the hormone that drives platelet production. The inherited change makes this receptor overactive. Acquired changes in JAK2, CALR or MPL are more often the cause of raised platelet counts than inherited changes.

Follow-up with a haematologist monitors blood counts and clot risk. The report notes that low-dose aspirin is advised for patients, and that cytoreductive medicines are used for higher-risk disease. Genetic counselling is recommended, since relatives can have a blood count and testing.

A vizsgált betegség

Miért a teljes genom szekvenálás

Raised platelet counts are more often caused by acquired changes than by inherited ones, so a negative result does not rule out thrombocythaemia. Whole genome sequencing reads MPL to look for an inherited cause.

Korlátok

• Raised platelet counts are more often caused by acquired changes in JAK2, CALR or MPL than by inherited changes. A negative result does not rule out thrombocythaemia.

Hivatkozások

1. MPL gene. MedlinePlus Genetics
2. Essential thrombocythemia. MedlinePlus Genetics
3. Guglielmelli P, Calabresi L, 2022. The MPL mutation. International review of cell and molecular biology
4. Tefferi A, Vannucchi AM, Barbui T, 2024. Essential thrombocythemia: 2024 update on diagnosis, risk stratification, and management. American journal of hematology

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