Screening for Alpha 1 antitrypsin deficiency in Tunisian subjects with obstructive lung disease: a feasibility report

• Main Authors: Chibani Jemni, Campo Ilaria, Ferrarotti Ilaria, Gorrini Marina, Scabini Roberta, Knani Jalel, Ottaviani Stefania, Amri Fethi, Zorzetto Michele, Denden Sabri, Khelil Amel, Luisetti Maurizio
• Format: Article
• Language: English
• Published: BMC 2009-04-01
• Series: Orphanet Journal of Rare Diseases
• Online Access: http://www.ojrd.com/content/4/1/12

<p>Abstract</p> <p>Background</p> <p>AATD is one of the most common inherited disorders in the World. However, it is generally accepted that AATD in North African populations is not a risk factor for lung and/or liver disease, based on a number of small studies. We therefore planned a screening study for detection of AATD in patients with OLD in a cohort of patients from Kairouan in central Tunisia. Methods: One hundred twenty patients with OLD (asthma, emphysema, COPD) were enrolled in the screening programme. Laboratory diagnosis for AATD was performed according to current diagnostic standards.</p> <p>Results</p> <p>We found that 6/120 OLD patients carried an AAT deficient allele, 1 PI*MZ, 1 PI*MPlowel, 3 PI*MMmalton, 1 PI*MMwurzburg.</p> <p>Conclusion</p> <p>this pilot study demonstrated that alleles related to deficiency of AAT are not absent in the Tunisian population, and that rare AATD variants prevailed over commonest PI*Z variant. These results would support a larger scale screening for AATD in Tunisia.</p>