Case Report
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World J Clin Cases. Mar 16, 2014; 2(3): 62-66
Published online Mar 16, 2014. doi: 10.12998/wjcc.v2.i3.62
Can a polymorphism in the thalassemia gene and a heterozygote CFTR mutation cause acute pancreatitis?
J-Matthias Löhr, Stephan Haas
J-Matthias Löhr, Stephan Haas, Gastrocentrum, Karolinska Institutet and University Hospital, SE-141 86 Stockholm, Sweden
J-Matthias Löhr, Stephan Haas, Division of Molecular Gastroenterology, Department of Medicine II, Medical Faculty Mannheim, University of Heidelberg, 69117 Heidelberg, Germany
Author contributions: Löhr JM and Haas S contributed to this manuscript.
Correspondence to: J-Matthias Löhr, MD, Professor of Gastroenterology and Hepatology, Gastrocentrum, Karolinska Institutet and University Hospital, CLINTEC, K53, SE-141 86 Stockholm, Sweden.
Telephone: +46-8-58582431 Fax: +46-8-58582340
Received: November 11, 2013
Revised: December 10, 2013
Accepted: January 15, 2014
Published online: March 16, 2014

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.