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Hemophilia A
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Hemophilia A

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Contributors: Joon B. Kim BS, Eric Ingerowski MD, FAAP, Michael W. Winter MD
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Synopsis

Hemophilia A is a bleeding disorder due to a deficiency of factor VIII. It is an X-linked recessive inherited disorder and occurs mostly in males. Patients present with prolonged bleeding following injuries, surgical procedures, and dental extractions. Age of onset will vary based on phenotype severity, but most patients are diagnosed in early childhood or adolescence.

Patients can have variable phenotypes. A small percentage of female carriers may present with a mild phenotype. In its most severe phenotype, patients can present with spontaneous hemorrhage.

Left untreated, hemophilia A may be fatal (intracranial hemorrhage) or result in severe motor impairment or paralysis (chronic joint disease).

Hemophilia A is a lifelong condition with no known cure. Management focuses primarily on prevention and symptom control. A small clinical trial has found that gene therapy using a viral vector encoding a B-domain-deleted human factor VIII was effective in treating severe hemophilia A, but at present this is not readily available or the standard of care.

Related topic: Hemophilia B

Codes

ICD10CM:
D66 – Hereditary factor VIII deficiency

SNOMEDCT:
28293008 – Hereditary factor VIII deficiency disease

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Last Reviewed: 01/14/2019
Last Updated: 02/11/2019
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Hemophilia A
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Hemophilia A : Easy bruising, Hemarthrosis, PTT prolonged
Copyright © 2019 VisualDx®. All rights reserved.