Scientists at National Health Insurance Corporation Ilsan Hospital Release New Data on Science

New research, "A Gly1609Arg Missense Mutation in the vWF Gene in a Korean Patient with von Willebrand Disease Type 2A," is the subject of a report. According to the authors of a study from Goyang, South Korea, "We describe a case of a c.4825G >A (p.Gly1609Arg [Gly846Arg]) missense mutation in the gene encoding von Willebrand factor (vWF) in a Korean patient with von Willebrand disease (vWD) type 2A. The proband is a 37-year-old female who suffers from dysmenorrhea and menorrhagia."

"On laboratory testing, we found a low (0.01) vWF:RCo/Ag ratio, a decrease in high and intermediate molecular weight multimers from plasma, and abnormalities in the collagen binding capacity of plasma vWF, all of which were indicative of vWD type 2. Family studies revealed that her sister, son, and daughter also had a low vWF:RCo/ Ag ratio and a decrease in high molecular weight multimers from plasma. Genetic analyses showed that she and her three family members had the same heterozygous c.4825G >A (p.Gly1609Arg [Gly846Arg]) missense mutation," wrote S.J. Choi and colleagues, National Health Insurance Corporation Ilsan Hospital.

The researchers concluded: "To our knowledge, this is the first report of the c.4825G >A (p.Gly1609Arg [Gly846Arg]) heterozygote mutation in Korean family members with vWD type 2A."

Choi and colleagues published their study in Annals of Clinical and Laboratory Science (A Gly1609Arg Missense Mutation in the vWF Gene in a Korean Patient with von Willebrand Disease Type 2A. Annals of Clinical and Laboratory Science, 2012;42(1):98-102).

For more information, contact S.J. Choi, Dept. of Laboratory Medicine, National Health Insurance Corporation Ilsan Hospital, 1232 Baekseok-dong, Ilsandong-gu, Goyang, South Korea.