Glanzmann's Thrombasthenia

Glanzmann thrombasthenia: a rare hereditary disease that deserves attention

Glanzmann thrombasthenia, also known as hemorrhagic thrombasthenia type II, is a rare inherited disorder that affects the function of platelets, the blood cells responsible for blood clotting. This condition was first described by Swiss hematologist Eduard Glanzmann in 1955.

Glanzmann thrombasthenia manifests itself in the absence or defectiveness of glycoproteins known as IIb/IIIa integrins, which usually play a key role in the formation of platelet clots. As a result, platelets are unable to adequately aggregate to form the necessary clots, resulting in prolonged and uncontrollable bleeding.

The main symptoms of Glanzmann thrombasthenia include increased bleeding, nose and gum bleeding, bleeding into the skin (bruising), as well as bleeding from wounds and after surgery. Some patients may also experience bleeding within muscles and joints, which can lead to limited movement and chronic pain.

The diagnosis of Glanzmann thrombasthenia is often made through clinical evaluation of symptoms and laboratory tests such as platelet count and platelet aggregation. Genetic testing may also be done to confirm the presence of mutations responsible for the disease.

To date, there is no treatment that would completely cure Glanzmann thrombasthenia. Treatment is aimed at controlling and preventing bleeding. Patients may receive platelet transfusions to maintain normal levels of these cells in the blood. In addition, medications such as antifibrinolytics and platelet stimulating drugs may be used to improve blood clotting.

It is important to note that Glanzmann thrombasthenia is a chronic disease that requires constant medical supervision. Patients should avoid injuries and procedures that may cause bleeding and seek medical attention if necessary.

Although Glanzmann's thrombasthenia is a rare condition, further research and increased awareness of this condition may lead to improved diagnosis and treatment. Glanzmann's thrombasthenia: a rare inherited disorder worthy of attention

Glanzmann thrombasthenia, also known as hemorrhagic thrombasthenia type II, is a rare inherited disorder that affects the function of platelets, the blood cells responsible for blood clotting. This condition was first described by Swiss hematologist Eduard Glanzmann in 1955.

Glanzmann thrombasthenia manifests itself in the absence or defectiveness of glycoproteins known as IIb/IIIa integrins, which usually play a key role in the formation of platelet clots. As a result, platelets are unable to adequately aggregate to form the necessary clots, resulting in prolonged and uncontrollable bleeding.

The main symptoms of Glanzmann thrombasthenia include increased bleeding, nose and gum bleeding, bleeding into the skin (bruising), as well as bleeding from wounds and after surgery. Some patients may also experience bleeding inside the muscles and joints, which can lead to limited movement and chronic pain.

The diagnosis of Glanzmann thrombasthenia is often made through clinical evaluation of symptoms and laboratory tests such as platelet count and platelet aggregation. Genetic testing may also be done to confirm the presence of mutations responsible for the disease.

To date, there is no treatment that would completely cure Glanzmann thrombasthenia. Treatment is aimed at controlling and preventing bleeding. Patients may receive platelet transfusions to maintain normal levels of these cells in the blood. In addition, medications such as antifibrinolytics and platelet stimulating drugs may be used to improve blood clotting.

It is important to note that Glanzmann thrombasthenia is a chronic disease that requires constant medical supervision. Patients should avoid injuries and procedures that may cause bleeding and seek medical attention if necessary.

Although Glanzmann's thrombasthenia is a rare condition, further research and increased awareness of this condition may lead to improved diagnosis and treatment.

Glanzmann thrombocytopathy is a hereditary pathology in which the level of functional platelets in blood cells is reduced. In this case, the patient may not have obvious signs of the disease. Sometimes the platelet level may be normal, but the quality of their work may be impaired. This distinguishes the patient from patients with a complete absence of normal cells. The disease is considered a manifestation of hemophilia because in many cases it runs in families with hemophilia. It should be noted that with this diagnosis