Research & Future Treatments

Reproductive Health and Women with Rare Coagulation Disorders

FVII Deficiency

During the F7 Retreats from 2017-2019, Comprehensive Health Education Services coordinated with Dr. Diane Nugent, Chief Hematologist at Children’s Hospital of Orange County, CA, founder of the Center for Comprehensive Care and Diagnosis of Inherited Blood Disorders (CIBD) and the Hematology Advanced Diagnostics Laboratory (HADL) that provides access to specialty laboratory testing for the diagnosis of inherited blood disorders.

Due to the coordinated efforts between Dr. Nugent, the attendees at these family retreats and CHES, at our last live event, she reported the following information:

Among the 154 individuals sequenced... variants were identified in 55 patients and 67 relatives

Among all 154 individuals, 48 different variants were detected in the Factor VII gene.

NOT

Of those variants, 15 were listed with the NCBI databank or FVII Registry.

(Family studies proved highly informative in mapping the pathologic lesions to the functional regions of the FVII molecule.)

The variant types included:

4 stop gains

Of note:

*Only 3 patients had no Factor VII variants identified

*During the 2-day FVII Retreat, consent forms, bleeding questionnaires, and blood samples were obtained from those in attendance.

*Factor levels were obtained through each patient's primary physician at the time of diagnosis, and whole gene sequencing was performed at HADL, using their validated Next Generation Sequencing (NGS) clotting protein panel which contains FVII along with 21 additional clotting genes.

Once again, there was when the FVII level was >10-20%. However, for those patients with FVII levels, <5% of the bleeding scores were usually elevated, especially in women post menarche.

58 patients

A total of 154 individuals were evaluated comprising of: