Glanzmann thrombasthenia is a rare inherited bleeding disorder named after the Swiss pediatrician Eduard Glanzmann (1887–1959), who first described the condition in 1918. Working in Bern, Switzerland, Dr. Glanzmann studied a family in which multiple children suffered from unusually frequent and severe nosebleeds, easy bruising, and prolonged bleeding after minor injuries.
What puzzled him was that these children had normal platelet counts, yet their bleeding symptoms resembled those seen in people with very low platelet levels. Through meticulous clinical observation and early laboratory testing, Glanzmann concluded that the patients’ platelets were present but failed to function properly. He introduced the term “thrombasthenia”, from the Greek words thrombos (clot) and asthenia (weakness), to describe this condition of “clotting weakness.”
Decades later, researchers would confirm Glanzmann’s hypothesis by discovering that the disorder is caused by a defect in a specific platelet receptor called GPIIb/IIIa, which is essential for platelet aggregation—the process that helps stop bleeding by forming a clot. Without a working GPIIb/IIIa receptor, platelets cannot stick together effectively, even though they appear normal in number and shape.
Today, Glanzmann thrombasthenia serves as a powerful reminder of how careful clinical observation can lead to foundational discoveries in medicine. Dr. Glanzmann’s legacy lives on in the name of this disorder and in the deeper understanding it provided of platelet biology.
Early Life and Education
- Born: April 12, 1887, in Luzern, Switzerland
- Medical studies: Attended universities in Zürich, Berlin, and Berne (1909–1912)
- Earned his MD in Berne in 1914
- Undertook postgraduate studies at the pediatric clinic in the Charité, Berlin, in 1915
Academic and Professional Career
- 1929: Became Privatdozent (lecturer) in pediatrics at the University of Berne
- 1932: Appointed Professor and Director of the Children’s Hospital (Das Jenner-Kinderspital) in Bern
- 1939: Became Chair of Pediatrics at the University of Berne
- 1943–1945: Served as Dean of the University of Berne
Key Medical Attributions
- 1918 – Glanzmann recognised ‘weak‘ non-functioning platelets (thrombasthenia) were associated with prolonged bleeding times in the autosomal recessive condition now known as Glanzmann thrombastenia. He proposed the slow/absent clot retraction was as a result of a ‘functional disturbance of platelets‘ (-pathia); not simply a lack of platelet numbers (-paenia). In particular non-functioning ’weak’ platelets.
- 1920 – Reported on the allergic components of HSP as ‘Anaphylaktoide Purpura‘
- 1930 – Characterized the features of ’the fever of the lymphatic glands in children‘ which we know today as infectious mononucleosis
- 1950 – Glanzmann and Paul Riniker described two infants with ’essentieller Lymphocytophthise‘, the first cases of severe combined immune deficiency