Weighing the Evidence for Newborn Screening for Hemoglobin H Disease

Abstract

To conduct a systematic review to assist the United States Secretary of Health and Human Services Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) to determine whether Hemoglobin H screening should be included among the core recommended conditions for newborn screening. We identified 21 articles in MEDLINE from 1989 to March 2010 that provided evidence regarding screening, treatment, and outcomes associated with Hemoglobin H disease. In California, newborn screening has identified 9 cases per 100 000 of deletional hemoglobin H disease and 0.6 cases per 100 000 of nondeletional hemoglobin H disease. Five cases of hemoglobin Bart's hydrops fetalis syndrome were also identified in over ten years of screening for Hemoglobin H disease. Although Hemoglobin H disease is associated with a wide range of morbidity, no studies were found that evaluated the benefits of early identification and treatment. The SACHDNC found the data insufficient to recommend that states adopt newborn screening for Hemoglobin H disease.