The AAT gene is extremely polymorphic. In addition to the wildtype allele M, there are more than 100 variants. The S and Z alleles account for most of the mutations with the Z mutation being the more severe in patients with AAT deficiency. Individuals with MZ and MS are considered as carriers and appear to not be at increased risk for lung and liver disease while individuals with ZZ or SZ are considered as AAT deficient with moderate to severe deficiency.

1/2 500
individuals with European ancestory are affected by AAT deficiency.
remain undiagnosed.


On one hand, AAT-Deficiency Pulmonary Symptoms often appear after 40 years old, whereas the AAT-Deficiency Hepatic Symptoms may be manifested in early childhood. On the other hand, disease progression can be slowed down by early therapy and by minimizing exposure to aggravating agents. That is why it is crucial to identify people susceptible to AAT deficiency-related pulmonary and hepatic damage and enrol them in AAT Deficiency management care as soon as possible.

Although guidelines recommend that everyone with COPD, Chronic Obstructive Pulmonary disease, or unexplained bronchiectasis be tested for Alpha-1, 90% of individuals remain undiagnosed with severe Alpha-1 and diagnosis occurs several years after the onset of symptoms.

Different methods can be used to detect AAT deficiency. The most common is by protein phenotyping using isoelectrofocusing (IEF). AAT can be directly measured by nephelometry or immunoturbidimetry, but this measurement can be sometimes misleading because AAT concentrations can be increased and/or decreased due to conditions unrelated to AAT deficiency. Genotyping assays are also available for the most common deficiency-associated alleles such as S and Z, but these assays can miss significant numbers of at-risk people with other alleles.

Sebia's expertise

Our HYDRAGEL 18 A1AT ISOFOCUSING kit is designed for the qualitative detection and identification of the different phenotypes of alpha-1 antitrypsin by isoelectrofocalisation. The semi-automated HYDRASYS 2 SCAN FOCUSING system performs all the steps needed to obtain gels ready for interpretation.