(Thanks to Dave McGlasson for this case study)
A six-year-old boy presented with a history of joint bleeds, hematomas, and occasional deep muscular bleeds. His parents reported that he had experienced no umbilical bleeding but bled from circumcision at two days of age, reaching a hemoglobin level of 3.1 g/dL, requiring transfusions and surgery. There was no family history of bleeding, but evidence of consanguinity.
Initial Laboratory Results
Prothrombin time | 13.5 seconds | 12.6–14.6 seconds |
Partial thromboplastin time | 33.5 seconds | 25–35 seconds |
Thrombin time | 17 seconds | < 21 seconds |
Platelet count | 240,000/uL | 150,000–450,000/uL |
Factors VIII, IX, and XI | All within reference interval |
What is his most likely hemostasis deficiency?
What follow-up tests would you suggest (please use comments section).
Alpha 2 antiplasmin
Alpha 2 antiplasmin deficiency could also be included in the possible hemostatic abnormalities. Severe bleeding including into the joints can be seen in this deficiency. This deficiency is also inherited in an autosomal recessive pattern, which could fit in this case because of evidence of consanguinity.
Due to the evidences of
Due to the evidences of consanguinity and severe bleeding symptoms, this probably was an autosomal recessive hemorrhagic disorder, such as factor XIII deficiency or Glanzmann thrombasthenia.