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

Authors Traivaree C, Monsereenusorn C, Meekaewkunchorn A, Laoyookhong P, Suwansingh S, Boonyawat B

Received 17 April 2017

Accepted for publication 9 May 2017

Published 21 June 2017 Volume 2017:10 Pages 37—41


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Prof. Dr. Martin H. Maurer

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 <5% (severe type) who presented ICH during the neonatal period. The IVS6+1G>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

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