QuestionSBA
QuestionChoice
This is a typical description of a patient with haemophilia A. Haemophilia A can vary in severity, but typically presents with bleeding into soft tissues, muscles and joints. It is diagnosed with a factor VIII assay and genetic testing. It is caused by deficiency of clotting factor VIII, an important part of the intrinsic component of the coagulation cascade.
10025015
a
Haemophilia A
QuestionChoice
Alexander's disease is a rare genetic bleeding disorder, which would show a deficiency in factor VII, not factor VIII. Alexander's disease presents with easy bruising, frequent nosebleeds and prolonged bleeding after physical injury. It does not commonly present with haemarthroses.
10025017
c
Alexander's disease
QuestionChoice
Acute myeloid leukaemia would present with symptoms such as weight loss, frequent infections, tiredness and shortness of breath. This question is more typical of a presentation of haemophilia.
10025019
e
Acute myeloid leukaemia
QuestionChoice
Acute lymphoid leukaemia does occur in children, and can present with increased bleeding. It is an important diagnosis to rule out. However, it would not explain the low levels of Factor VIII. It would also be likely to present with other symptoms such as pallor, frequent infections, weight loss and fatigue.
10025018
d
Acute lymphoid leukaemia
QuestionChoice
Haemophilia B would show a deficiency in clotting factor IX, not clotting factor VIII.
10025016
b
Haemophilia B
Concept
Chapter
2693
3925
haemophilia
Topic
157
Haematology
17401
A nine-year-old male attends his GP with recurrent haemarthroses. He undergoes multiple blood tests, which reveal low levels of factor VIII.

Which of the following is the most likely diagnosis?
a