A Blue Baby and the Hemoglobin Toms River Mutation
Dr. Mitchell Weiss, attending physician and hematology researcher at The Children’s Hospital of Philadelphia, recently appeared in a news article describing his discovery of the hemoglobin Toms River mutation. This newly identified mutation was discovered because of a blue baby. A blue tinge to the skin can be caused by different serious medical complications, but instead of being in distress, this newborn girl seemed happy. Dr. Weiss suggested genetic testing that eventually found that the temporary discoloration of this infant’s skin was caused by a previously unknown mutation. Dr. Weiss followed his profession’s traditions and named it the hemoglobin Toms River mutation, after the hometown of his patient. He published his discovery in the New England Journal of Medicine; meanwhile, the child was deemed in good health at her two-month evaluation. Read the article to learn more about this unique happy ending.