Abstract
AbstractFactor VII deficiency, also known as Alexander's disease, is a rare bleeding disorder due to homozygous or compound heterozygous mutations in the F7 gene and is inherited in an autosomal recessive manner. The condition manifests as a wide range of symptoms, based on the severity of the disease, and may appear at any age. While family and personal histories are essential for identification of the disorder, there is usually no history due to the autosomal recessive nature of the condition. Here, we report a case of factor VII deficiency in a family that was identified due to multiple neonatal deaths and the importance of genetic counseling and prenatal diagnosis for such scenarios.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
