From the Guidelines
Decreased alpha 1 and alpha 2 globulins in electrophoresis indicate Alpha-1 Antitrypsin (AAT) deficiency, a genetic disorder that can lead to chronic liver disease and chronic obstructive airway disease.
Key Points
- AAT deficiency is characterized by low levels of alpha-1 antitrypsin, a protein that protects the lungs and liver from damage 1.
- The diagnosis of AAT deficiency is made by clinical and laboratory examinations, including AAT phenotyping and abdominal ultrasound examination 1.
- Decreased alpha 1 and alpha 2 globulins in electrophoresis can be an indicator of AAT deficiency, as AAT is a type of alpha-1 globulin 1.
- The association between AAT deficiency and liver disease is well established, particularly in children, where it can present as jaundice in early infancy 1.
- Clinical features suggesting PI*ZZ AAT deficiency in childhood include infant with increased level of transaminase and/or bilirubin, infant with neonatal hepatitis syndrome, and child or adolescent with hepatomegaly and/or hepatosplenomegaly 1.
- Genetic testing for AAT deficiency can be useful in identifying asymptomatic individuals at high risk of having AAT deficiency, allowing for early intervention and prevention of disease progression 1.
From the Research
Decreased Alpha 1 and Alpha 2 Globulins in Electrophoresis
- Decreased alpha 1 and alpha 2 globulins in electrophoresis can indicate several conditions, including alpha 1-antitrypsin deficiency 2, 3.
- Alpha 1-antitrypsin deficiency is a genetic disorder that can be detected by the absence of alpha 1-globulin protein fraction by serum protein electrophoresis (SPEP) 3.
- Low alpha 1-globulin concentrations can also be seen in patients with nephrotic syndrome, as proteinuria is nonselective and all serum protein fractions are excreted in the urine 4.
- In haemolytic uraemic syndrome, serum alpha 1-globulin levels were significantly higher in the acute phase, while alpha 2-globulin levels were significantly lower 5.
- Decreased alpha 2 globulins can also be seen in hepatobiliary disorders with a high phosphatase concentration, where the increase is due mainly to raised alpha 2 phosphatase activity 6.
Possible Conditions
- Alpha 1-antitrypsin deficiency 2, 3
- Nephrotic syndrome 4
- Haemolytic uraemic syndrome 5
- Hepatobiliary disorders 6
Diagnostic Considerations
- Serum protein electrophoresis (SPEP) can be used to detect alpha 1-antitrypsin deficiency and other conditions characterized by decreased alpha 1 and alpha 2 globulins 2, 3.
- Visual inspection of electrophoretic patterns of serum proteins can help detect alpha 1-antitrypsin deficiency earlier 2.
- Clinicians should consider investigation of potential alpha 1-antitrypsin deficiency in patients who exhibit low alpha 1-globulin protein levels by routine SPEP 3.