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Congenital Combined Deficiency of the Vitamin K-dependent Clotting Factors (VKCFD)

A Novel Gamma-glutamyl Carboxylase (GGCX) Mutation

Al Absi, Hebah S., MD*; Abdullah, Mohammad F., MD

Journal of Pediatric Hematology/Oncology: May 2019 - Volume 41 - Issue 4 - p e224–e226
doi: 10.1097/MPH.0000000000001385
Online Articles: Original Articles
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Congenital combined vitamin K-dependent clotting factors deficiency (VKCFD) is a very rare autosomal recessive bleeding disorder. Here we report a case of a girl with novel variant in the gamma-glutamyl carboxylase (GGCX) gene leading to VKCFD. A 3-month-old girl presented to our hospital with a history of bleeding from puncture site. Laboratory evaluation showed markedly prolonged partial thromboplastin time and activated partial thromboplastin time. Activities of vitamin K-dependent factors were all low. Genetic analysis revealed a homozygous currently unreported variant in the GGCX gene further supporting a diagnosis of VKCFD type 1. VKCFD due to GGCX mutation has an overall good prognosis

*Department of Pediatrics, Division of General Pediatrics, Sheikh Khalifa Medical City

Department of Pediatrics, Division of Pediatric Hematology and Oncology, Sheikh Khalifa Medical City, Abu Dhabi, UAE

Presented at American Society of Pediatric Hematology and Oncology Conference, 2018.

The authors declare no conflict of interest.

Reprints: Hebah S. Al Absi, MD, Department of Pediatrics, Division of General Pediatrics, Sheikh Khalifa Medical City, Al Karama street, Abu Dhabi, UAE (e-mail: heba89absi@gmail.com).

Received June 29, 2018

Accepted November 13, 2018

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