Office of Newborn Screening - Hemoglobinopathies Hemoglobinopathies Hemoglobinopathies are disorders or diseases caused by abnormalities in the structure or production of hemoglobins.
Hemoglobins are the molecules in red blood cells which carry oxygen.
There are several different genes which determine normal hemoglobin structure and, to date, over seven hundred abnormal genes have been described. This number continues to grow with advances in laboratory technology. Fortunately, most of these abnormalities are benign. Early detection of sickle cell disease is the greatest benefit of hemoglobin screening. The abnormal shape impairs circulation and shortens red blood cell life span.