The Diabetic Issues Related to a Familial Case of Hemoglobin Wayne: A Case Report and Review

Diabetes is a common disorder of carbohydrate metabolism that produces significant complications when either poorly treated or overtreated. Before 1978, the HgbA1c modality was not available to diagnose or monitor diabetes but now has become the standard of care. The results from this laboratory test are proportional to the glycosylation of hemoglobin and represents an accepted measure of glycemic control. Effects of hemoglobinopathies depend on their quaternary structure and have been shown to have impact HgbA1c results. Hgb Wayne is a rare hemoglobinopathy that occurs from a frameshift mutation in which either an asparagine (Hgb Wayne 1) or aspartic acid (Hgb Wayne 2) is located at residue 139 of the HBA2 gene. When separated by electrophoresis, this peak appears very close to that of the HgbA1c. Most HgbA1c monitoring equipment is either electrophoresis or ion exchange high-performance liquid chromatography which combine these two peaks together as one, falsely elevating the patient’s HgbA1c level. This co-elution can create an incongruity between HgbA1c levels and those of random glucose readings. Acting upon a falsely elevated HgbA1c with medication risks life-threatening hypoglycemia. In these following cases, this is explored with two related patients diagnosed independently by separate physicians in the same practice.