Glanzmann thrombasthenia 1

Glanzmann thrombasthenia 1 is a bleeding syndrome where people experience spontaneous bleeding from areas like the skin and mucous membranes. This condition can lead to an exaggerated response to minor trauma and injury due to a low platelet count, a key component in blood clotting. The condition is recognized as a constitutional issue, meaning it is present from birth. The natural ability to form blood clots is impaired, which explains why bleeding episodes can occur easily, even with small injuries. This summary is based on the available information regarding the definition and classification of the disorder.

People with this condition can experience spontaneous mucocutaneous bleeding, which includes bleeding from the gums, nosebleeds, and other areas with mucous membranes. There is also an exaggerated bleeding response to even minor trauma, making routine injuries more concerning.

Glanzmann thrombasthenia 1 is linked to genetic factors, notably involving the ITGA2B gene. Abnormalities in this gene can affect the glycoprotein complex on platelets that is crucial for proper blood clot formation. This genetic aspect explains why the condition is present from birth.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.