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Hemophilia A
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Hemophilia A

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Contributors: Eric Ingerowski MD, FAAP
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Synopsis

The classic presentation of hemophilia A, a blood clotting / bleeding disorder due to deficiency of factor VIII, occurs mostly in males due to X-linked recessive inheritance. Characterized by prolonged bleeding following injuries, surgery, and dental extractions, it may present in mild, moderate, or severe phenotypes. In a small percentage of female carriers, it may present in a milder form. Onset depends on severity of phenotype, but bleeding episodes may begin in early childhood and adolescence. More severe forms frequently present with spontaneous hemorrhage. Left untreated, hemophilia A may be fatal (intracranial hemorrhage), or result in severe motor impairment or paralysis (chronic joint disease).

A small clinical trial has found that gene therapy using a viral vector encoding a B-domain-deleted human factor VIII was very effective in treating severe hemophilia A. Emicizumab, a bispecific monoclonal antibody that bridges activated factor IX and factor X that restores hemostasis, is under active study as prophylaxis.

Related topic: Hemophilia B

Codes

ICD10CM:
D66 – Hereditary factor VIII deficiency

SNOMEDCT:
28293008 – Hereditary factor VIII deficiency disease

Differential Diagnosis & Pitfalls

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Last Updated: 09/06/2018
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Hemophilia A
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Hemophilia A : Easy bruising, Hemarthrosis, PTT prolonged
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