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


CONCLUSIONS
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.
Denden
Sabri
S
Biochemistry and Molecular Biology Laboratory, Faculty of Pharmacy, AV. Avicienne 1, 5019 Monastir, Tunisia. denden_sabri@yahoo.fr
Zorzetto
Michele
M
Amri
Fethi
F
Knani
Jalel
J
Ottaviani
Stefania
S
Scabini
Roberta
R
Gorrini
Marina
M
Ferrarotti
Ilaria
I
Campo
Ilaria
I
Chibani
Jemni Ben
JB
Khelil
Amel Haj
AH
Luisetti
Maurizio
M
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044383:Black People; D015331:Cohort Studies; D005260:Female; D006801:Humans; D008173:Lung Diseases, Obstructive / Q000150:complications* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D014416:Tunisia; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications* / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics
D000515:alpha 1-Antitrypsin