Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency develops lung and liver disease. SERPINA 1 gene mutation causes Alpha-1 antitrypsin deficiency and is an inheritable disorder. This means that it can be transferred from parent to children.

Medical Condition
  • Shortness of breath, wheezing & fatigue
  • Respiratory infections
  • Liver & Lung diseases
  • Emphysema
  • Skin condition (Painful lumps or patches on skin, Panniculitis)
Genetic Changes
  • SERPINA1 gene provides instruction for making alpha-1 antitrypsin
  • Alpha-1 antitrypsin is a protein which controls the enzyme neutrophil elastase
  • Dysfunction of the Alpha-1 antitrypsin protein causes lung disease as neutrophil elastase is not controlled in the cell. Accumulation of the same also damages vital organs as well.

No specific treatment as it is a genetic disorder with high morbidity.

  • Bone Marrow transplantation
  • Blood transfusion
  • Enzyme replacement therapy
  • Gene therapy
  • Genetic screening can identify single gene disorders
  • Early prognosis can prevent such diseases
  • Remedial & personalized medicine can change the outcome
  • Doctors can suggest alternatives for couples planning pregnancy
More information

At Aaranya Biosciences we use Next Generation Sequencing (NGS) to analyze single gene disorders. Our screening test with NGS has an accuracy of 99%.

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