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Genotype and phenotype correlation in intracranial hemorrhage in neonatal factor VII deficiency among Thai children

التفاصيل البيبلوغرافية
العنوان: Genotype and phenotype correlation in intracranial hemorrhage in neonatal factor VII deficiency among Thai children
المؤلفون: Traivaree C, Monsereenusorn C, Meekaewkunchorn A, Laoyookhong P, Suwansingh S, Boonyawat B
المصدر: The Application of Clinical Genetics, Vol Volume 10, Pp 37-41 (2017)
بيانات النشر: Dove Medical Press, 2017.
سنة النشر: 2017
المجموعة: LCC:Medicine (General)
LCC:Genetics
مصطلحات موضوعية: Mutation analysis, Factor VII Deficiency, Thai children, Medicine (General), R5-920, Genetics, QH426-470
الوصف: Chanchai Traivaree,1 Chalinee Monsereenusorn,1 Arunotai Meekaewkunchorn,2 Premsak Laoyookhong,3 Saranya Suwansingh,4 Boonchai Boonyawat5 1Division of Hematology/Oncology, Department of Pediatrics, Phramongkutklao Hospital and College of Medicine, 2Division of Hematology/Oncology, Department of Pediatrics, 3Division of Neonatology, Department of Pediatrics, Queen Sirikit National Institute of Child Health, Bangkok, 4Division of Hematology/Oncology, Department of Pediatrics, Chiangrai Prachanukroh Hospital, Chiang Rai, 5Division of Genetics, Department of Pediatrics, Phramongkutklao Hospital and College of Medicine, Bangkok, Thailand Abstract: Congenital factor VII (FVII) deficiency is a rare inherited coagulopathy. The clinical manifestations and clinical findings vary widely, ranging from asymptomatic to life-threatening bleeding, including intracranial hemorrhage (ICH), with prolonged prothrombin time, normal partial thromboplastin time and normal platelet counts, which are confirmed by the low level of FVII assay. Treatment consists of fresh frozen plasma (FFP), prothrombin complex concentrates (PCCs), and recombinant activated FVII to treat bleeding and prophylactic therapy. Here, we report four patients with FVII levels T was the most common (50%) mutation identified in our study, followed by the K376X nonsense mutation (37.5%). In our study, we found that genetic information affected the severity of congenital FVII deficiency with ICH. Keywords: mutation analysis, factor VII deficiency, Thai children
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1178-704X
Relation: https://www.dovepress.com/genotype-and-phenotype-correlation-in-intracranial-hemorrhage-in-neona-peer-reviewed-article-TACG; https://doaj.org/toc/1178-704X
URL الوصول: https://doaj.org/article/5a653b75202f4ebeb2b1c5f7754ebc55
رقم الأكسشن: edsdoj.5a653b75202f4ebeb2b1c5f7754ebc55
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:1178704X