Weighing the evidence for newborn screening for Hemoglobin H disease

J Pediatr. 2011 May;158(5):780-3. doi: 10.1016/j.jpeds.2010.10.042. Epub 2010 Dec 16.


Objective: 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.

Study design: We identified 21 articles in MEDLINE from 1989 to March 2010 that provided evidence regarding screening, treatment, and outcomes associated with Hemoglobin H disease.

Results: 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.

Conclusions: The SACHDNC found the data insufficient to recommend that states adopt newborn screening for Hemoglobin H disease.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review
  • Systematic Review

MeSH terms

  • Humans
  • Incidence
  • Infant, Newborn
  • Neonatal Screening / methods*
  • United States / epidemiology
  • alpha-Thalassemia / epidemiology*