SNP Shot: Genomic Insights

Glanzmann thrombasthenia is a bleeding disorder present from birth, leading to extended or unprompted bleeding. Individuals with this condition often bruise readily, experience frequent nosebleeds, and bleed from their gums. They might also exhibit small red or purple spots on the skin (petechiae) due to underlying bleeding or develop swelling caused by bleeding into tissues (hematoma). Following injuries, trauma, or surgical procedures (including dental work), individuals with Glanzmann thrombasthenia may experience prolonged bleeding. Women with this disorder may also have prolonged and, in some cases, unusually heavy menstrual periods. Furthermore, these women are at higher risk of significant blood loss during pregnancy and delivery.

Approximately 25% of those affected by Glanzmann thrombasthenia experience bleeding within the digestive system, which typically develops later in life. In rare instances, individuals may experience bleeding within the skull (intracranial hemorrhage) or within the joints (hemarthrosis).

The intensity and frequency of bleeding events in Glanzmann thrombasthenia can differ significantly from person to person, even among family members. Unprovoked bleeding tends to diminish with age.

Inheritance:

Glanzmann thrombasthenia follows an autosomal recessive inheritance pattern. This means that a mutation must be present in both copies of the responsible gene within each cell for the disorder to manifest. Individuals who inherit only one copy of the mutated gene from each parent are carriers, usually without showing any symptoms of the condition.