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.
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.