Alpha-1 Antitrypsin Deficiency Screening Using Serum Protein Electrophoresis

Area of Science:

• Medical Diagnostics
• Genetics
• Biochemistry

Background:

• Alpha-1 antitrypsin deficiency is an underrecognized genetic disorder caused by SERPINA1 gene variants.
• Serum protein electrophoresis (SPE) can detect low alpha-1 antitrypsin levels, indicating potential deficiency.

Purpose of the Study:

• To evaluate the effectiveness of an SPE-based screening protocol for identifying SERPINA1 mutations.
• To assess the utility of SPE in diagnosing alpha-1 antitrypsin deficiency.

Main Methods:

• Analysis of 12,460 SPE tests to identify samples with <3% alpha-1 globulin.
• Measurement of alpha-1 antitrypsin concentration in selected samples (<100 mg/dL).
• Genetic analysis of the SERPINA1 gene in participants.

Main Results:

• 175 samples showed <3% alpha-1 globulin; 70 had <100 mg/dL alpha-1 antitrypsin.
• Of 39 participants, 87.2% harbored SERPINA1 mutations (e.g., PI*MS, PI*MZ, PI*SZ).
• Mean alpha-1 antitrypsin concentration was 78.8 mg/dL.

Conclusions:

• SPE is an effective screening tool for SERPINA1 gene mutations.
• The protocol facilitates opportunistic diagnosis of alpha-1 antitrypsin deficiency.
• Early detection and treatment of alpha-1 antitrypsin deficiency are promoted.