Although AATD is a well-characterized pathology, little is known about the patients AATD
PI*Mmalton genotypes variation. Most of the patients with Mmalton
alleles are particularly common in Sardina ii. It was also shown that this variation accounts about 20%
of the rare alleles identified in different study.
There is limited data from the rest of the Europe about Mmalton genotype – we believe it would
be important to characterize this patients in a clinical and epidemiologically way and study their
evolution in a long-term analysis