Research

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

Sabri Denden¹ , Michele Zorzetto² , Fethi Amri³ , Jalel Knani⁴ , Stefania Ottaviani² , Roberta Scabini² , Marina Gorrini² , Ilaria Ferrarotti² , Ilaria Campo² , Jemni Ben Chibani¹ , Amel Haj Khelil¹ and Maurizio Luisetti²

¹  Biochemistry and Molecular Biology Laboratory, Faculty of Pharmacy, AV. Avicienne 1, 5019 Monastir, Tunisia

²  Center for Diagnosis of Inherited Alpha1-antirtypsin Deficiency, Institute for Respiratory Disease, IRCCS San Matteo Hospital Foundation, Piazza Golgi 19, 27100 Pavia, Italy

³  Pediatric Department, Ibn El Jazzar Hospital, Av Ibn El Jazzar, 3100 Kairouan, Tunisia

⁴  Pulmonology Department, CHU Tahar Sfar, 5111 Mahdia, Tunisia

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Orphanet Journal of Rare Diseases 2009, 4:12doi:10.1186/1750-1172-4-12

Published:	15 April 2009

Abstract

Background

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.

Results

We found that 6/120 OLD patients carried an AAT deficient allele, 1 PI*MZ, 1 PI*MPlowel, 3 PI*MMmalton, 1 PI*MMwurzburg.

Conclusion

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.