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Intracranial Bleeding In A Female Hemophilia Patient: Molecular Analysis of Factor 8 Gene And Determination of A Novel Mutation

by Atabay, Berna , Özkınay, Ferda , Malbora, Barış , Türker, Meral , Ataseven, Eda , Atik, Tahir , Önder Siviş, Zühal , Belen, Burcu Fatma , Tatlı Güneş, Burcak , Işık, Esra

in Alleles / Biomarkers / Chromosomes / Consanguinity / DNA Mutational Analysis / Factor VIII - genetics / Female / Females / Genotype / Hemophilia / Hemophilia A - complications / Hemophilia A - diagnosis / Hemophilia A - genetics / Humans / Infant / intracranial bleeding / Intracranial Hemorrhages - diagnosis / Intracranial Hemorrhages - etiology / Letters to the Editor / Male / Mutation / Pedigree / Plasma / Tıp

2018

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Intracranial Bleeding In A Female Hemophilia Patient: Molecular Analysis of Factor 8 Gene And Determination of A Novel Mutation

by Atabay, Berna , Özkınay, Ferda , Malbora, Barış , Türker, Meral , Ataseven, Eda , Atik, Tahir , Önder Siviş, Zühal , Belen, Burcu Fatma , Tatlı Güneş, Burcak , Işık, Esra

2018

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Intracranial Bleeding In A Female Hemophilia Patient: Molecular Analysis of Factor 8 Gene And Determination of A Novel Mutation

by Atabay, Berna , Özkınay, Ferda , Malbora, Barış , Türker, Meral , Ataseven, Eda , Atik, Tahir , Önder Siviş, Zühal , Belen, Burcu Fatma , Tatlı Güneş, Burcak , Işık, Esra

2018

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Journal Article

Intracranial Bleeding In A Female Hemophilia Patient: Molecular Analysis of Factor 8 Gene And Determination of A Novel Mutation

Atabay, Berna,

Özkınay, Ferda,

Malbora, Barış,

Türker, Meral,

Ataseven, Eda,

Atik, Tahir,

Önder Siviş, Zühal,

Belen, Burcu Fatma,

Tatlı Güneş, Burcak,

Işık, Esra

2018

Overview

To the Editor, An 11-month-old female patient was admitted to the emergency department with right occipital fracture and epidural hematoma. The father had severe hemophilia A and the parents were cousins. Laboratory tests revealed normal complete blood count and prolonged activated partial thromboplastin time. Mixing test results were normalized after mixing with normal plasma. After plasma samples were collected for further diagnostic tests, fresh frozen plasma and dexamethasone were administered.

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Publisher

Türk Hematoloji Derneği,Galenos Publishing House,Galenos Publishing,Turkish Society of Hematology

Subject

/ DNA Mutational Analysis

/ Factor VIII - genetics

/ Female