Case 175

The affected person in generation 4 has laboratory findings with Hgb 12.9 g/dL, Hct 42.1%, MCV 90 fL, platelet count 243,000/microliter, WBC count 6620/microliter, prothrombin time 13 seconds, and partial thromboplastin time 59 seconds. The PTT corrects with 1:1 mixing of patient and normal plasma. What famous physician from what city first described this condition long ago?

The pedigree is characteristic for an X-linked recessive condition. The laboratory findings fit with a coagulopathy marked by a prolonged PTT that corrects with normal serum, suggesting a specific factor deficiency. The likely possibilities are factor VIII deficiency (hemophilia A) and factor IX deficiency (hemophilia B).

The earliest reference to a disease process resembling hemophilia appears in the Jewish Talmud.

Abul Qasim al-Zahrawi (963-1013 CE), known as Albucasis in the West, is the 'father of surgery.' He was a famous surgeon who was born and lived in Cordoba in Andalusia (in present day Spain). He was the first to describe hemophilia when writing of a family whose males died of bleeding after minor injuries. His notable work, Al-Tasrif, was composed of 30 volumes on medical science, including 3 volumes on surgery. He described many surgical procedures, and he designed dozens of surgical instruments. His books were still in use 500 years later. He was the first to utilize silk sutures to close wounds.

The first modern description of hemophilia was made by an American physician in 1803, Dr. John Conrad Otto from Philadelphia. The term for the disease was first proposed as haemorrhaphilia by Dr. Friedrich Hopff in Zurich in 1828, and this was later changed to hemophilia.


There were 86 correct entries out of 152 total entries for case 175.
Our winner is: Shannon Gideon of Chicago, Illinois, USA


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