Hemoglobin H newborn screening: let's not

Abstract

y 2011 T he Journal has published data in support of adding various diseases to newborn screening protocols. In this issue, Kemper et al present a compelling case for not adding a particular disorder. The report is a model of the type of thoughtful consideration that should go into such decisions. Hemoglobin H (Hgb H) disease is a rare hemoglobinopathy associated with growth retardation, cholelithiasis, and a variety of other manifestations. Because of the shift to beta-globulin Hgb chains after the newborn period, Hgb H can only be detected easily within the newborn period. This has led to arguments in favor of adding it to sickle cell screening, and some states have adopted this process. This report presents a careful analysis of the published evidence against screening, as well as the experience in areas in which screening already occurs. The authors conclude that the evidence does not support newborn screening for the condition. Regardless of one’s interest in hemoglobinopathy screening, the nicely presented analysis in this report is an impressive example of the type of work that should inform policy decisions. This is timely because of the mounting political opposition to the development of evidence-based decision-making in medicine. Article page 780<