Abstract
BACKGROUND: α-1 antitrypsin (AAT) deficiency is one of the most important genetic causes of childhood liver diseases in some parts of the world, but its geographic distribution is highly variable. There are many reports from Asian countries such as India, the Philippines, and China which show a very low incidence of this disease. However few studies exist from Iran regarding this genetic deficiency as the cause for prolonged neonatal jaundice. In this study we attempt to investigate the possible role of AAT deficiency as a cause of prolonged neonatal jaundice in the largest pediatric referral center of Southern Iran.
METHODS: We included 126 neonates with the clinical diagnosis of neonatal cholestasis in this study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was performed on the extracted DNA from their blood samples. DNA sequencing confirmed the results of the PCR-RFLP tests.
RESULTS: All patients were genetically normal regarding level of AAT, i.e., all were MM homozygotes.
CONCLUSION: AAT deficiency is a rare disease in Iran and is not a major cause of neonatal cholestasis in this country.