Establishing a comprehensive genetic diagnosis strategy for hemophilia B and its application in Chinese population

Establishing a comprehensive genetic diagnosis strategy for hemophilia B and its application in... INTRODUCTIONHemophilia B (HB, OMIM 306900) accounting for 15%‐20% of hemophilia is the second most common form after hemophilia A, estimated to occur in one in 30 000 live male births worldwide and rarely affects females. The prevalence of HB in mainland China was lower than that of the worldwide. However, about 30%‐45% of patients with hemophilia B have a severe disease, which have a severe phenotype characterized by frequent spontaneous bleeding episodes that may result in chronic, debilitating arthropathy, and occasionally death.Hemophilia B is caused by a wide variety of heterogeneous and infrequent mutations in the FIX gene. The FIX gene (OMIM 300746) is located on the Xq27.1 and 34 kb in length, with 8 exons encoding a 2.8 kb mRNA, 1.4 kb of which are translated, and the protein is a vitamin K‐dependent serine protease released into plasma as a single glycoprotein of 415 amino acids. Regular infusion of FIX concentrates is the main management of hemophilia B. And gene therapy seemed to be an appealing alternative for hemophilia B according to recent clinical trials. However, gene therapy is still undergoing trials, and the demands of treatment also increase the disease burden on patients and their families, leading to reduced quality of http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png International Journal of Laboratory Hematology Wiley

Establishing a comprehensive genetic diagnosis strategy for hemophilia B and its application in Chinese population

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Publisher
Wiley Subscription Services, Inc., A Wiley Company
Copyright
Copyright © 2018 John Wiley & Sons Ltd
ISSN
1751-5521
eISSN
1751-553X
D.O.I.
10.1111/ijlh.12771
Publisher site
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Abstract

INTRODUCTIONHemophilia B (HB, OMIM 306900) accounting for 15%‐20% of hemophilia is the second most common form after hemophilia A, estimated to occur in one in 30 000 live male births worldwide and rarely affects females. The prevalence of HB in mainland China was lower than that of the worldwide. However, about 30%‐45% of patients with hemophilia B have a severe disease, which have a severe phenotype characterized by frequent spontaneous bleeding episodes that may result in chronic, debilitating arthropathy, and occasionally death.Hemophilia B is caused by a wide variety of heterogeneous and infrequent mutations in the FIX gene. The FIX gene (OMIM 300746) is located on the Xq27.1 and 34 kb in length, with 8 exons encoding a 2.8 kb mRNA, 1.4 kb of which are translated, and the protein is a vitamin K‐dependent serine protease released into plasma as a single glycoprotein of 415 amino acids. Regular infusion of FIX concentrates is the main management of hemophilia B. And gene therapy seemed to be an appealing alternative for hemophilia B according to recent clinical trials. However, gene therapy is still undergoing trials, and the demands of treatment also increase the disease burden on patients and their families, leading to reduced quality of

Journal

International Journal of Laboratory HematologyWiley

Published: Jan 1, 2018

Keywords: ; ; ; ;

References

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