Martynova

Martynov - Roussing's sign (Marchynow – Roussing's sign)

Martynov is a rare hereditary disease that is associated with a defect in the genes responsible for the regulation of erythropoiesis. This defect can lead to the development of red blood cell disorders such as anisopoikilocytosis, macrocytosis, and myelodysplasia. In severe cases, this can lead to anemia and even leukemia.

The first symptom of the disease is increased sensitivity to sunlight, which manifests itself in the form of severe photosensitivity and erythema. People with Martynov-Rovsing may also experience bone pain, muscle spasms, and fatigue.

Research has shown that gene defects are associated with disruption of mitochondrial DNA, which is responsible for energy production in cells. This can lead to decreased energy production efficiency and impaired development of new blood cells.

The main diagnostic method for Martynov-Rovsing is a blood test for the morphology of erythrocytes, which allows one to determine the presence of anisopoikilocytes and macrocytes. Additionally, myelogram and anemic formula tests can be performed to determine the severity of the disease.

Treatment of Martynov-Rovsing is carried out only with the help of transplantation. Bone marrow or stem cell transplantation is the only treatment for the disease that shows positive results. Bone marrow translocation is a rather risky procedure, but currently it is the only way to treat hereditary erythrogram diseases.

Martynov-Rovsing disease is a rare case of a disorder of hematological processes that can affect the development and function of the blood. If you have these symptoms, you should consult a doctor for diagnosis and advice.