The JAK2 mutation is a genetic alteration but they are not inherited rather acquired. JAK2 mutations are generally associated with myeloproliferative disorders, such as polycythemia vera, essential thrombocythemia, and agnogenic myeloid metaplasia (primary myelofibrosis). In myeloproliferative disorders, an abnormal growth of blood cells occurs in the bone marrow. It is a protein that communicates with the bone marrow,through a mechanism to make or to stop producing the blood cells.
The person suffering from this disorder cannot control the bone marrow from the production of excessive blood cells. This results in the production of too many blood cells, which are not needed. It usually takes longer like years for Individuals with JAK2 mutation to develop a myeloproliferative disease. Nine of ten individuals with polycythemia vera have JAK2 mutation. Only half of the individuals diagnosed with essential thrombocythemia and/or primary myelofibrosis are positive for JAK2 mutation. There are other mutations in the JAK2 gene, in exons 12 and also in exons 13, which are distinct from JAK2 V617F.
There are some kind of MPNs that are most commonly associated with JAK2 mutation, including polycythemia vera (PV), where bone marrow makes too many red blood cells; essential thrombocythemia (ET), where there are too many platelet-producing cells in the bone marrow; and primary myelofibrosis (PMF), also known as chronic idiopathic myelofibrosis or agnogenic myeloid metaplasia, where there are too many platelet-producing cells and cells that produce scar tissue in the bone marrow.
JAK2 Mutation Analysis Test, Symptoms, Treatment
Here you can find all relevant information about JAK2 Mutation, such as what kind of useful health information, one can have with the help of analysis test, what kind of symptoms one can have and the available treatments are there, if you are interested then continue reading.
JAK2 Mutation Analysis Test
A JAK2 Mutational Analysis is usually recommended when a physician suspects a myeloproliferative disorder. In order to perform the JAK2 mutation test, blood sample is required, which is drawn using a syringe inserted into a superficial vein of the arm. The JAK2 mutation test is typically ordered as a follow-up test if a person has a significantly increased hemoglobin and/or platelet count and the health care provider suspects that the person may have an MPN.
Such an analysis is only helpful in providing information in both treatment and prognosis of a myeloproliferative disorder.The presence of a JAK2 mutation helps a healthcare provider make a definitive diagnosis of MPN (PV, ET or PMF). But no worries, a positive JAK2 Mutational Test does not mean that an individual is sick or will get sick. It may be only an indication of future development of polycythemia vera, or other forms of myeloproliferative disorders. But only thing that you have to take care is close follow-up with a healthcare provider.
JAK2 Mutation Analysis Symptoms
Sometimes people with MPNs may have no symptoms or a few, relatively mild ones that may be present for years before being recognized as an MPN, often during a routine physical. Following are some common symptoms such as:
- Easy bruising and bleeding
- Joint pains
- Signs and symptoms of anemia
- Unexplained weight loss
- Easy tiredness
- Shortness of breath
- Other heart symptoms, such as congestive heart failure
- Night sweats
- Bone and joint pain
- A pale appearance due to anemia (when red blood cells are decreased)
- Frequent infections
JAK2 Mutation Treatment
There is no single treatment that is effective for all problems that may occur due to this mutation. And even for the same disorder, there may a unique set of symptoms and circumstances that require different treatment options, as prescribed by a doctor.
Jakafi is the first drug approved by the FDA for treating MF patients. Jakafi is recommended for the treatment of patients with intermediate or high-risk myelofibrosis (MF), including primary MF, post–polycythemia vera MF and post–essential thrombocythemia MF. As a targeted therapy, Jakafi is designed to be more specific for abnormal cells.
Allogenic Stem Cell Transplantation (ASCT) is the only curative treatment for MF. Patients need to carefully discuss whether or not they may be eligible for such a procedure, due to possibility for complications. With ASCT, blood forming stem cells are transferred from a donor to the patient, essentially replacing defective stem cells with healthy ones. Before the stem cell infusion, the patient receives chemotherapy and/or radiation therapy to eradicate diseased bone marrow.