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Hemophilia B
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Hemophilia B

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

Hemophilia B, also known as Christmas disease, is a bleeding disorder due to factor IX deficiency. It is less common than hemophilia A and is also an X-linked autosomal recessive disorder that occurs most commonly in males.

Hemophilia B is characterized by prolonged bleeding following injuries, surgical procedures, and dental extractions. It can present with variable 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 B may be fatal (intracranial hemorrhage) or result in severe motor impairment or paralysis (chronic joint disease).

Hemophilia B is a chronic condition with no known cure. A clinical trial has found that gene therapy using a viral vector with a high-specific-activity factor IX variant was significantly effective in treating hemophilia B, although gene therapy is not the standard of care or readily available, and treatment focuses primarily on adverse event prevention and prophylaxis.

Related topic: Hemophilia A

Codes

ICD10CM:
D67 – Hereditary factor IX deficiency

SNOMEDCT:
41788008 – Hereditary factor IX deficiency disease

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Last Reviewed: 01/31/2019
Last Updated: 02/12/2019
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Hemophilia B
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Hemophilia B : Easy bruising, Hemarthrosis, Ecchymosis, PTT prolonged
Copyright © 2019 VisualDx®. All rights reserved.