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What is the most common chromosomal abnormality in polycythemia vera (PV)?

User Staceyann
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Final answer:

The most common chromosomal abnormality in polycythemia vera is the JAK2 V617F mutation on chromosome 9, which is a point mutation contributing to the disease's excessive red blood cell production.

Step-by-step explanation:

The most common chromosomal abnormality in polycythemia vera (PV) is the JAK2 V617F mutation, which is not a chromosomal aberration like trisomy or monosomy, but rather a point mutation within the chromosome. This mutation occurs in the Janus kinase 2 (JAK2) gene on chromosome 9. Despite not being a change in chromosome number or large-scale structural alteration, this point mutation is instrumental in causing the overproduction of red blood cells characteristic of PV.

In polycythemia vera, the bone marrow produces too many red blood cells, which increases blood viscosity and can lead to complications such as high blood pressure and thrombosis. Elderly patients, especially those over 60 and more commonly males, are typically affected by this condition. Other chromosomal disorders, such as Down syndrome, involve the duplication of an entire chromosome, e.g., having three copies of chromosome 21, but this is not the case with polycythemia vera.

User Quervernetzt
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