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TürkiyeDiagnosis and screening

Genetic study of 34 patients with factor VII deficiency in İzmir: 4 new gene changes found

Peer-reviewed publication

A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.

The F7 gene was studied in 34 patients at Ege University. A total of 16 different gene changes were found, 4 of them described for the first time. Half of the patients had a change in one copy of the gene. In 20.6%, both copies were affected. In 29.4%, no change was found. The factor level in the blood did not reliably reflect how severe the bleeding was.

What does it mean for patients and families?

A blood test alone may not always show the bleeding risk. Genetic testing can help with counseling for families. This is a small, single-center study.

Source

PubMed (Blood Coagulation & Fibrinolysis): Genetic and clinical characterization of factor VII deficiency: insights from 34 Turkish patients.

Scientific paper: Genetic and clinical characterization of factor VII deficiency: insights from 34 Turkish patients. Blood Coagulation & Fibrinolysis, 2025. DOI: 10.1097/MBC.0000000000001381 · PubMed 40748016

The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).

This page is translated from the Turkish original.

This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.

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This page was translated from Turkish by the Doktorclub editorial team.