SCIENTIFIC BACKGROUND

F7

Category:

SCIENTIFIC BACKGROUND

Factor VII (FVII) is a vitamin K-dependent glycoprotein that is synthesized in the liver and released into the blood. In the presence of calcium, it forms a complex with tissue thromboplastin (TF). During this process, factor VII is activated into factor VIIa. The TF-FVIIa complex then activates Factor X and Factor IX, resulting in the polymerization of fibrin in the course of the coagulation cascade.

 

Genetic factor VII deficiency is one of the rare congenital coagulation disorders caused by pathogenic variants in the F7 gene. The disorder is inherited in an autosomal recessive manner and has an incidence of approximately 1:300,000. Heterozygous carriers are usually asymptomatic, while homozygous or compound heterozygous carriers often develop hemorrhagic diathesis (an increased tendancy to bleed). Factor VII deficiency is characterized by a pathological prothrombin time with a normal partial thromboplastin time (PTT). Residual factor VII activity often does not correlate with the extent of bleeding tendency. The symptoms are highly variable since factor VII deficiency is not only affected by genetic factors. Environmental factors such as nutrition, diabetes, or the intake of sex hormones (in women) also modulate the phenotype.

 

Factor VII deficiency may also be acquired (e.g., acquired vitamin K deficiency, liver disease). Rarely, factor VII deficiency has also been described in the context of thrombophilia, which is usually associated with hyperhomocysteinemia.

 

Substitution therapy with concentrated FVII preparations or recombinant activated FVII is possible.

 

References

Sevenet et al. 2017, Clin Appl Thromb Hemost 23(7):703 / Peyvandi et al. 2012, Haemophilia 18:148 / Kogiso et al. 2011, Clin Apll Thromb Hemost 17:E205 / Herrmann et al. 2009, Haemophilia 15:267 / Herrmann et Wulff 2004, Hämostaseologie 2:94 / Perry 2002, Brit J of Haematology 118:689

GENES

F7

ASSOCIATED TESTS

How to order

LATEST ARTICLES

Aiming to evaluate the role of chromosomal aneuploidy in pregnancy loss, a 2023 study 35 years in the making evaluated the genomic landscape of first...

Read more

Cancer is a complex genetic disease that affects millions of people in the world. It is one of the leading causes of death worldwide, with about ten ...

Read more

Researchers created a detailed map of the placenta during labor. By studying how maternal and fetal cells communicate, they discovered signals in the...

Read more

A recent paper published in Nature Medicine (1) aimed to identify genes and genomic biomarkers which can better predict outcomes and personalized the...

Read more

In honor of the international day of women and girls in science, we interviewed one of our very own, Dr. Evelina Papaioannou. Dr. Evelina Pa...

Read more

Aneuploidies, such as translocations, whole or segmental chromosomal duplications, and deletions, are examples of chromosomal abnormalities that are ...

Read more

Here you can read the winning essays from the first, annual DNA essay competition on the subject of "How unfolding the DNA code can help with precisi...

Read more

Introduction Our voices are as unique as our fingerprints! Although there are people whose voices might sound alike, there are no two voices exact...

Read more

Not everyone likes winter. For people who do not enjoy the cold weather, or having to put on a thick coat to go outside, a winter can be a source of ...

Read more

The month of November, also known as Movember, has been chosen as the month to raise awareness about men’s health. During Movember, men are encoura...

Read more