Can a polymorphism in the thalassemia gene and a heterozygote CFTR mutation cause acute pancreatitis?

Abstract

The case of a 32-year-old black woman of African descent who suffered from repeated episodes of acute pancreatitis, initially triggered when flying on airplanes, is reported. She did not drink alcohol or smoke. Genetic analysis was negative for cationic trypsinogen, serine protease inhibitor Kazal type 1 and chymotrypsin C. However, hemoglobin F was elevated. Sequencing of the thalassemia gene revealed a novel alteration in the 5’ region indicative of a functional abnormality of the molecule. Sequencing the cystic fibrosis transmembrane conductance regulator (CFTR) gene revealed a heterozygote sequence variant. The combination of a hemoglobin gene mutation known for thalassemia in conjunction with the hitherto undescribed CFTR mutation is suggested to pave the road for initial and repetitive pancreatitis attacks. This will be discussed.

Keywords: Acute pancreatitis, Hypoxia, Flying, Thalassemia, Hemoglobin, Cystic fibrosis transmembrane conductance regulator, Hereditary persistence of fetal hemoglobin

Core tip: This is a discussion case with two genetic alterations, one in a pancreatitis-related gene and one in an unrelated gene that might influence the oxygenation in the pancreas.