A Chinese family with congenital Dysfibrinogenemia carries a heterozygous missense mutation in FGA: Concerning the genetic abnormality and clinical treatment

Congenital dysfibrinogenemia is a rare hereditary disease characterized by normal antigen level but lower function level of fibrinogen. Patients with congenital dysfibrinogenemia usually present as bleeding and/or thrombotic events. In this study, we explored the genetic abnormality and clinical tre...

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Bibliographic Details
Published in:Pakistan journal of medical sciences 2017-08, Vol.33 (4), p.968-972
Main Authors: Zhou, Jihao, Zhu, Peng, Zhang, Xinyou
Format: Article
Language:English
Subjects:
Anemia
Antigens
Care and treatment
Congenital diseases
Deoxyribonucleic acid
Disease
DNA
Dyspnea
Embolisms
Family medical history
Fibrin
Fibrinogen
Genetic aspects
Genetic disorders
Genomes
Hemophilia
Hospitals
Medical schools
Menstruation
Mutation
Original
Patients
Pulmonary arteries
Thrombosis
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Summary:Congenital dysfibrinogenemia is a rare hereditary disease characterized by normal antigen level but lower function level of fibrinogen. Patients with congenital dysfibrinogenemia usually present as bleeding and/or thrombotic events. In this study, we explored the genetic abnormality and clinical treatment of a Chinese family with dysfibrinogenemia. This study was conducted in Jan 2015 to Jan 2016 in the Second Medical College (Shenzhen People's Hospital, Jinan University, Shenzhen, Guangdong Province, P.R. China. Coagulation function test were used to screen patients in this family. For all family members, DNA from peripheral blood was isolated. Whole-genome exon sequencing was carried out to screen possible mutations. And sanger sequencing was employed to further confirm the mutation in patients. The proband is a woman who had anemia and increased menstruation. Hypofibrinogenemia was found after admission. However, a pulmonary embolism occurred after the fibrinogen replacement treatment. Whole exon sequencing was conducted afterward. A candidate mutation in FGA gene (c.103C>A) was identified and validated in the woman and in two siblings. From this case, we learned that1) point mutation of c.103C>A is the pathogenesis for congenital dysfibrinogemia in this family; 2) thromboprophylaxis should always be in consideration when fibrinogen replacement is conducted. Prospective studies are needed to determine the best fibrinogen replacement strategy in order to achieve adequate hemostasis while minimize risk of thrombosis.
ISSN:1682-024X
1681-715X
DOI:10.12669/pjms.334.12828