TITLE

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

AUTHOR(S)
Denden, Sabri; Zorzetto, Michele; Amri, Fethi; Knani, Jalel; Ottaviani, Stefania; Scabini, Roberta; Gorrini, Marina; Ferrarotti, Ilaria; Campo, Ilaria; Chibani, Jemni Ben; Khelil, Amel Haj; Luisetti, Maurizio
PUB. DATE
January 2009
SOURCE
Orphanet Journal of Rare Diseases;2009, Vol. 4, p1
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
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.
ACCESSION #
42094986

 

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