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What’s thrombasthenia?

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Thromboasthenia, also known as Glanzmann’s disease, is a rare bleeding disorder caused by a lack of protein that allows platelets to clump together. Symptoms include easy and prolonged bleeding, bruising, and nosebleeds. There is no cure, but preventative measures can be taken.

Thromboasthenia is a rare autosomal recessive bleeding disorder also known as Glanzmann’s disease or Glanzmann’s thrombasthenia. An individual with this congenital medical condition experiences easy and prolonged bleeding, even when it results from small injuries. This is because the affected individual lacks a certain protein that allows platelets to clump together; platelets clump together to stop bleeding in an individual. Thromboasthenia is a lifelong disease that someone may have in a mild or severe form.

There is a certain circumstance under which an individual might develop thrombasthenia. To have an autosomal recessive disorder, an individual receives one autosomal recessive gene from each parent who carries the disorder. When an individual inherits two of these recessive genes, their risk of developing the disease increases. Although thrombasthenia is an inherited disease, the affected individual’s parents and siblings may not have the disease. Boys and girls are equally affected by the disease and are usually diagnosed in early childhood.

The most common symptoms of thrombasthenia include bleeding gums, bruising, and nosebleeds. Trauma such as surgery can also cause excessive bleeding. Also, a woman with the disorder might have abnormally heavy menstrual periods. Because everyday wounds have the potential to cause prolonged bleeding, an individual with the disorder should be careful to avoid injury. Extreme blood loss can have negative results and require an individual to receive a platelet transfusion.

A variety of factors could lead to the diagnosis of thrombasthenia. For example, an individual might have symptoms associated with the disorder that prompt a doctor to run tests. Examples of tests include a complete blood count (CBC), platelet aggregation test, or prothrombin time (PT). In some cases, it may be known during pregnancy that the parents have the recessive gene. When this is the case, it is possible to find out if the unborn child has the disorder through a prenatal diagnosis.

There is no cure for thrombasthenia, but an individual with the disorder can take preventative steps to avoid or reduce their bleeding. For example, he shouldn’t take nonsteroidal anti-inflammatory drugs (NSAIDs), such as aspirin and ibuprofen, because they can make him bleed for a longer period of time. Additionally, a woman who has heavy menstrual periods may require hormone treatment measures, such as the oral contraceptive pill, in order to reduce or control her blood loss.

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