Rare blood mutation named for Toms River, N.J

After treating a baby who whose skin had a distinct bluish tinge for the first weeks of her life, a Children’s Hospital of Philadelphia doctor found out why.

The baby had a hemoglobin mutation that prevents oxygen from binding to some fetal hemoglobin molecules. It is not harmful and the baby’s bluish skin tone faded away after several weeks. She is now perfectly healthy.

The hemoglobin mutation she carries, however, will now forever carry the name of her hometown of Toms River, N.J.

Dr. Mitchell Weiss at the Children’s Hospital of Philadelphia was the first to identify the mutation, so he named it after the patient’s hometown, as convention dictates.

“When we found this mutation, since it was a new mutation that hadn’t been described before, we wanted to study it. By doing that we learned some things about hemoglobin that we didn’t know before,” Weiss said.

Weiss said there are hundreds of hemoglobin mutations. They are easy to spot because they often turn a patient’s skin different colors. There is hemoglobin Beijing, hemoglobin New York, and hemoglobin Camden. There is hemoglobin Philly, not to be confused with hemoglobin Philadelphia.

Many disorders are named after the scientists who found them, but there are others with ties to the area. Legionnaires’ disease was discovered after participants at a convention of the American Legion came down with a mysterious pneumonia-like infection at a Philadelphia hotel in 1976.

“Fellows of the college took a blueprint of the building and started plotting on there where the different attendees had slept,” said J Nathan Bazzel at the College of Physicians of Philadelphia. “It was eventually tied to pigeon guano around the ventilation system up on the roof.”

Perhaps the most important medical namesake, the Philadelphia chromosome proved the connection between genetic abnormalities and cancer for the first time.