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Hemophilia B: Diagnosis and Management

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Congenital Bleeding Disorders

Abstract

Hemophilia B or Christmas disease is an X-chromosome-linked recessive bleeding disorder caused by the deficiency of coagulation factor IX (FIX), with a prevalence of ~1 per 30,000 males worldwide, around 3–4 fold less than hemophilia A. Patients with hemophilia B suffer from a bleeding tendency, usually related to the severity of factor deficiency. Recurrent joint bleeds, muscle, and soft-tissue hematoma are frequent in the severe deficiency (FIX <1 U/dL), and retroperitoneal and cerebral bleeding may also occur. Women who are carriers of this abnormality are usually asymptomatic. Timely diagnosis of the disorder is based on family history, clinical manifestations, and appropriate laboratory studies. Intravenous replacement therapy with the missing factor as prophylaxis is the current first therapeutic choice, which has significantly improved life expectancy and quality of life in these patients. However, inhibitor formation against FIX occurs up to 10% of the patients and represents a challenge because of the loss of efficacy of replacement therapy and the risk of severe allergic reactions. The use of recombinant FIX concentrates with extended half-life allows now for effective and safe treatment every 7–14 days or even up to 21 days. Gene therapy trials are ongoing, and this approach could represent the definitive cure option.

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Acknowledgments

We appreciate Professor Edward Tuddenham for his valuable comments that significantly improved the quality of this chapter.

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Correspondence to Giancarlo Castaman .

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Castaman, G., Motlagh, H., Pezeshkpoor, B. (2023). Hemophilia B: Diagnosis and Management. In: Dorgalaleh, A. (eds) Congenital Bleeding Disorders . Springer, Cham. https://doi.org/10.1007/978-3-031-43156-2_5

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