About
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.
Diagnosis
On one hand, AAT-Deficiency Pulmonary Symptoms appear often after 40, 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 but 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
Strong of our gel electrophoresis experience, 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.
* Under Product Registration approval
Featured resources on Alpha-1 Antitrypsin Deficiency
See all resourcesPitfalls and ceveats of A1AT diagnosis
Pitfalls and caveats in α1-antitrypsin deficiency testing: a guide for clinicians.
Evaluation of Sebia’s isoelectrofocusing kit for A1AT
Evaluation of Sebia’s isoelectrofocusing kit for A1AT with HYDRASYS.
The importance of SPE and A1AT phenotyping for a better AATD patient management
Educational Webinar Pr Simone Scarlata
HYDRASYS 2 SCAN FOCUSING: Overview
Learn more about the HYDRASYS 2 SCAN FOCUSING for a fast and user-friendly gel electrophoresis processing.
Upcoming events
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Alpha 1-Antitrypsin (A1AT) Phenotype Testing*
The gold standard assay for the alpha 1-antitrypsin (A1AT) phenotype testing.
* Under Product Registration approval
- Diagnosis of alpha-1 antitrypsin deficiency: Modalities, indications and diagnosis strategy, M.Balduyck et al, revues des maladies respiratoires, 2014, ; 31,729-745
- Efficacy of the Detection of the α1-Antitrypsin “Z” Deficiency Variant by Routine Serum Protein Electrophoresis, Patricia Slev et al, Am J Clin Pathol 2008; 130:568-572
- Pitfalls and caveats in α1-antitrypsin deficiency testing: a guide for clinicians, Frabciosi et al. The lancet.com/respiratory Vol 7 December 2019
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