Special considerations

Antenatal diagnosis

Carriers can be identified be genetic mutation analysis. Factor VIII: vWF ratio is unreliable. Antenatal diagnosis in carriers with 9 fetus ideally performed by chorionic villus sample DNA analysis at ~10 weeks gestation to allow termination of pregnancy; rarer nowadays because of improved treatment and prognosis. Issue is complex and counselling/testing should be at comprehensive care centre.

Home treatment has transformed the life of the haemophiliac. Parents, the local GP, the boy himself from age 6-7 onwards, can be trained to give IV factor concentrates at home. Treatment usually starts in first year or two of life and portacath may be needed until age 4 or more.

Prophylaxis—e.g. 3 x weekly injections of concentrate (average dose 15-25u/kg) given at home.

Specialist support—physiotherapy plays key role in preservation of muscle and joint function in patients with haemarthroses. Combined clinics with orthopaedic surgeons, dental surgeons, hepatologists, 355 paediatricians, HIV physicians, and geneticists are required to give comprehensive care.

►► Do not give IM injections when factor is low.

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