Case: 6-year-old Boy with Chronic Bleeding

Case: 6-year-old Boy with Chronic Bleeding
Dec 31, 2018 12:53pm

(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).

2 Comments

(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).

By Dr. Ning Tang
Jan 1, 2019 9:05pm
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.
By JOHN
Jan 12, 2019 11:27am
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.

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