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Hemophilia B
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Hemophilia B

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Contributors: Eric Ingerowski MD, FAAP
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Synopsis

Occurring less frequently than hemophilia A, hemophilia B, or Christmas disease, is an X-linked recessively inherited blood clotting / bleeding disorder due to a deficiency of factor IX. Characterized by prolonged bleeding following injuries, surgery, and dental extractions, it may present in mild, moderate, or severe phenotypes. Primarily affects males. 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).

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.

Codes

ICD10CM:
D67 – Hereditary factor IX deficiency

SNOMEDCT:
41788008 – Hereditary factor IX deficiency disease

Differential Diagnosis & Pitfalls

Best Tests

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Last Updated: 12/14/2017
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Hemophilia B
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Hemophilia B : Easy bruising, Hemarthrosis, Ecchymosis, PTT prolonged
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