The Clinical Genetics of Hemophilia B (Factor IX Deficiency)

Connie H Miller1,2 1Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA; 2Synergy America, Inc., Duluth, GA, USACorrespondence: Connie H MillerDivision of Blood Disorders, National Center on Birth...

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Autor principal:	Miller CH
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2021
Materias:	factor ix hemophilia b genetics hematology Medicine (General) R5-920 Genetics QH426-470
Acceso en línea:	https://doaj.org/article/4b68979fcea141e8b9e75cbc34b2202b
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spelling	oai:doaj.org-article:4b68979fcea141e8b9e75cbc34b2202b2021-11-23T18:43:00ZThe Clinical Genetics of Hemophilia B (Factor IX Deficiency)1178-704Xhttps://doaj.org/article/4b68979fcea141e8b9e75cbc34b2202b2021-11-01T00:00:00Zhttps://www.dovepress.com/the-clinical-genetics-of-hemophilia-b-factor-ix-deficiency-peer-reviewed-fulltext-article-TACGhttps://doaj.org/toc/1178-704XConnie H Miller1,2 1Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA; 2Synergy America, Inc., Duluth, GA, USACorrespondence: Connie H MillerDivision of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Road, MS D-02, Atlanta, GA, 30333, USATel +1 501 408-6239Email cmiller2@cdc.govAbstract: Hemophilia B (HB) is a bleeding disorder caused by deficiency of or defect in blood coagulation factor IX (FIX) inherited in an X-linked manner. It results from one of over 1000 known pathogenic variants in the FIX gene, F9; missense and frameshift changes predominate. Although primarily males are affected with HB, heterozygous females may have excessive bleeding due to random or non-random X chromosome inactivation; in addition, homozygous, compound heterozygous, and hemizygous females have been reported. Somatic and germinal mosaicism for F9 variants has been observed. Development of antibodies to FIX treatment products (inhibitors) is rare and related to the type of causative variant present. Treatment is with products produced by recombinant DNA technology, and gene therapy is in clinical trials. Genetic counseling with up-to-date information is warranted for heterozygotes, potential heterozygotes, and men and women affected with HB.Keywords: factor IX, hemophilia B, genetics, hematologyMiller CHDove Medical Pressarticlefactor ixhemophilia bgeneticshematologyMedicine (General)R5-920GeneticsQH426-470ENThe Application of Clinical Genetics, Vol Volume 14, Pp 445-454 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	factor ix hemophilia b genetics hematology Medicine (General) R5-920 Genetics QH426-470
spellingShingle	factor ix hemophilia b genetics hematology Medicine (General) R5-920 Genetics QH426-470 Miller CH The Clinical Genetics of Hemophilia B (Factor IX Deficiency)
description	Connie H Miller1,2 1Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA; 2Synergy America, Inc., Duluth, GA, USACorrespondence: Connie H MillerDivision of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Road, MS D-02, Atlanta, GA, 30333, USATel +1 501 408-6239Email cmiller2@cdc.govAbstract: Hemophilia B (HB) is a bleeding disorder caused by deficiency of or defect in blood coagulation factor IX (FIX) inherited in an X-linked manner. It results from one of over 1000 known pathogenic variants in the FIX gene, F9; missense and frameshift changes predominate. Although primarily males are affected with HB, heterozygous females may have excessive bleeding due to random or non-random X chromosome inactivation; in addition, homozygous, compound heterozygous, and hemizygous females have been reported. Somatic and germinal mosaicism for F9 variants has been observed. Development of antibodies to FIX treatment products (inhibitors) is rare and related to the type of causative variant present. Treatment is with products produced by recombinant DNA technology, and gene therapy is in clinical trials. Genetic counseling with up-to-date information is warranted for heterozygotes, potential heterozygotes, and men and women affected with HB.Keywords: factor IX, hemophilia B, genetics, hematology
format	article
author	Miller CH
author_facet	Miller CH
author_sort	Miller CH
title	The Clinical Genetics of Hemophilia B (Factor IX Deficiency)
title_short	The Clinical Genetics of Hemophilia B (Factor IX Deficiency)
title_full	The Clinical Genetics of Hemophilia B (Factor IX Deficiency)
title_fullStr	The Clinical Genetics of Hemophilia B (Factor IX Deficiency)
title_full_unstemmed	The Clinical Genetics of Hemophilia B (Factor IX Deficiency)
title_sort	clinical genetics of hemophilia b (factor ix deficiency)
publisher	Dove Medical Press
publishDate	2021
url	https://doaj.org/article/4b68979fcea141e8b9e75cbc34b2202b
work_keys_str_mv	AT millerch theclinicalgeneticsofhemophiliabfactorixdeficiency AT millerch clinicalgeneticsofhemophiliabfactorixdeficiency
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The Clinical Genetics of Hemophilia B (Factor IX Deficiency)

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