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| Fortis Memorial Research Institute
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What is Myelofibrosis (MF)?

Myelofibrosis is a life-threatening bone marrow disorder that disrupts the body’s normal production of blood cells. The disease causes inflammation that leads to scars (fibrosis) in the bone marrow. Many people with MF get progressively worse, and some may eventually develop a more serious form of leukaemia, however, it is possible to have MF and live symptom-free for years

What causes Myelofibrosis?

MF occurs when blood stem cells – cells that can divide into multiple specialised cells that make up our blood viz. red blood cells, white blood cells and platelets – develop a genetic mutation for reasons unknown to medical science. As the mutated blood cells replicate and divide, the mutation is passed along to the new cells with serious effects on blood production. This usually results in a lack of red blood cells – which causes the anaemia characteristic of MF – and an overabundance of white blood cells with varying platelet levels.

What are the Risk Factors?

Although the exact cause of MF is not known, there are certain factors that increase the risk of acquiring the disease:

  • AGE: Most often diagnosed in people older than 50.
  • ANOTHER BLOOD CELL DISORDER: Some people with MF develop the condition as a complication of essential thrombocythemia or polycythemia vera.
  • EXPOSURE TO CERTAIN CHEMICALS: MF has been linked to exposure to industrial chemicals such as toluene and benzene.

What are the Symptoms of Myelofibrosis?

MF usually develops slowly and in its early stages, many people don’t experience any signs or symptoms, however, as disruption of normal blood cell production increases, the signs and symptoms may include:

  • Feeling tired, weak or short of breath, usually because of anaemia
  • Pain or fullness below the ribs on the left side, due to an enlarged spleen
  • Easy bruising
  • Easy bleeding
  • Excessive night sweats
  • Fever
  • Bone pain

What complications may result from Myelofibrosis?

The complications that result from MF may include:

  • INCREASED PRESSURE ON THE BLOOD FLOWING INTO THE LIVER: Normally, blood flow from the spleen enters the liver through a large blood vessel called the portal vein. Increased blood flow from an enlarged spleen can lead to high blood pressure in the portal vein forcing excess blood into smaller veins in the stomach and oesophagus, potentially causing these veins to rupture and bleed.
  • PAIN: A severely enlarged spleen can cause abdominal pain and back pain.
  • GROWTHS IN OTHER AREAS OF THE BODY: Formation of blood cells outside the bone marrow may create clumps or tumours of developing blood cells in other areas of the body. These tumours may cause bleeding in the gastrointestinal system, coughing or spitting up of blood, compression of the spinal cord, or seizures.
  • BLEEDING COMPLICATIONS: As the disease progresses, the platelet count tends to drop below normal (thrombocytopenia) and platelet function becomes impaired – easy bleeding.
  • PAINFUL BONES & JOINTS: MF can lead to hardening of the bone marrow and inflammation of the connective tissue around the bones causing bone & joint pain.
  • ACUTE LEUKAEMIA: Some people with MF eventually develops acute myelogenous leukaemia (AML) – a type of blood and bone marrow cancer that progresses rapidly.

How is Myelofibrosis Diagnosed?

The various tests and procedures used to diagnose MF include:

  • PHYSICAL EXAM: Check of vital signs, such as pulse and blood pressure, as well as checks of your lymph nodes, spleen and abdomen.
  • BLOOD TESTS: In MF, a complete blood count (CBC) typically shows abnormally low levels of red blood cells, a sign of anaemia common in people with MF. White blood cell and platelet counts are usually abnormal too.
  • IMAGING TESTS: X-rays and magnetic resonance imaging (MRI) may be used to gather more information about the condition.
  • BONE MARROW EXAMINATION: A bone marrow biopsy and aspiration can confirm a diagnosis of MF.
  • GENE TESTS: A sample of the blood or bone marrow may be analysed in a lab to look for gene mutations in the blood cells.

What is the treatment procedure?

There is no single treatment that is effective for all MF sufferers. Each patient has a unique set of symptoms and circumstances that require different treatment options. Some patients with MF remain symptom-free for many years and may not require immediate treatment, however, it is essential that an MF patient be monitored over time for signs or symptoms.

The available treatments & therapies for MF include:

  • TREATMENTS THAT TARGET GENE MUTATIONS: Researchers are working to develop medications that target the gene mutation (JAK2) that’s believed to be responsible for MF. One of these medications, Ruxolitinib, has been helpful in decreasing enlarged spleens and reducing symptoms associated with MF.
  • ALLOGENIC STEM CELL TRANSPLANT (ASCT): ASCT, where the stem cells are transferred from a donor to a patient, is the only curative treatment for MF