What is Thrombasthenia?

Thrombasthenia is a rare, autosomal recessive bleeding disorder also known as Glanzmann’s disease or Glanzmann’s thrombasthenia. An individual with this congenital medical condition suffers from easy and prolonged bleeding, even when it arises from small injuries. This is because the affected individual is missing a certain protein that enables platelets to aggregate; platelets clump together to stop bleeding in an individual. Thrombasthenia is a lifelong illness that someone might have in either mild or severe form.

There is a certain circumstance in which an individual might develop thrombasthenia. To have an autosomal recessive disorder, an individual receives one autosomal recessive gene from each parent that carries the illness. When the individual inherits two of these recessive genes, it increases his risk of developing the illness. Though thrombasthenia is an inherited disorder, the parents and siblings of the affected individual might not have the illness. Males and females are affected equally with the disorder and are usually diagnosed in early childhood.

Common symptoms of thrombasthenia include bleeding gums, easy bruising and nose bleeds. Trauma such as surgery can also result in excessive bleeding. In addition, a woman with the disorder might have abnormally heavy menstrual periods. Since everyday wounds can potentially cause prolonged bleeding, an individual with the disorder should take care to avoid injury. An extreme loss of blood can have negative results and demand that an individual get a platelet transfusion.

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

There is no cure for thrombasthenia, but an individual with the disorder can take preventative measures to avoid or reduce his bleeding. For example, he should not take nonsteroidal anti-inflammatory drugs (NSAIDs), like aspirin and ibuprofen, because they can cause him to bleed for a longer period of time. In addition, a woman who experiences heavy menstrual periods might require hormonal treatment measures, like the oral contraceptive pill, in order to reduce or control her blood loss.