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  • Title: Newborn screening for Hb H disease by determination of Hb Bart's using the Sebia capillary electrophoresis system in southern China.
    Author: Liao C, Zhou JY, Xie XM, Tang HS, Li R, Li DZ.
    Journal: Hemoglobin; 2014; 38(1):73-5. PubMed ID: 24229410.
    Abstract:
    Hb H (β4) disease is an inherited hemoglobin (Hb) defect in which three of the four α-globin genes are deleted or dysfunctional. The clinical manifestations vary widely from mild asymptomatic anemia to a severely anemic state. Recent literature suggests that Hb H disease is not as benign a disorder as previously thought. Newborn screening for Hb H disease is especially appealing because the screening test is based on the detection of Hb Bart's (γ4) that is only possible within the newborn period. In a 2-year period of newborn screening, 18 babies were found to have Hb H disease in a total of 9490 newborns. The overall prevalence for Hb H disease among all newborns in southern China is approximately 1 in 500. The correct diagnosis would allow affected infants to be properly cared for and reduce mortality rate.
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