TürkiyeDiagnosis and screening
Alpha-1 antitrypsin gene change found in 31 of 794 patients with emphysema in Samsun
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
In Samsun, patients with emphysema of the lungs were screened for alpha-1 antitrypsin deficiency. A total of 794 patients were tested with a dried blood drop taken from the fingertip. A gene change was found in 31 patients, or 4%. The deficiency was seen most often in the type of emphysema spread evenly throughout the lungs. Six patients received treatment that replaces the missing protein.
What does it mean for patients and families?
In people with emphysema, especially those who become ill at a young age or without smoking, this simple test can enable early diagnosis. A pulmonologist assesses whether the test is needed.
Source
Scientific paper: Alpha-1 Antitrypsin Genotype Distribution in Patients with Emphysema. International Journal of Chronic Obstructive Pulmonary Disease, 2025. DOI: 10.2147/COPD.S531347 · PubMed 40821999
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.
Related disease: Alpha-1 antitrypsin deficiency (AATD)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.