Newborn Screening for Hb H Disease by Determination of Hb Bart’s Using the Sebia Capillary Electrophoresis System in Southern China

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.

[1]  Dongzhi Li,et al.  Newborn screening for α-thalassaemia by a capillary electrophoresis method , 2012, Journal of medical screening.

[2]  L. Elvers,et al.  Relationship between neonatal screening results by HPLC and the number of α-thalassaemia gene mutations; consequences for the cut-off value , 2011, Journal of medical screening.

[3]  S. Fucharoen,et al.  Quantitative analysis of Hb Bart’s in cord blood by capillary electrophoresis system , 2011, Annals of Hematology.

[4]  A. Kemper,et al.  Weighing the evidence for newborn screening for Hemoglobin H disease. , 2011, The Journal of pediatrics.

[5]  E. Benz.  Newborn screening for α-thalassemia--keeping up with globalization. , 2011, The New England journal of medicine.

[6]  E. Vichinsky,et al.  Heterogeneity of hemoglobin H disease in childhood. , 2011, The New England journal of medicine.

[7]  C. Liao,et al.  Screening for Hb Constant Spring in the Guangdong Province, South China, Using the Sebia Capillary Electrophoresis System , 2011, Hemoglobin.

[8]  C. Liao,et al.  Detection of Hb Constant Spring by a Capillary Electrophoresis Method , 2010, Hemoglobin.

[9]  E. Vichinsky,et al.  Newborn screening for hemoglobinopathies in California , 2009, Pediatric blood & cancer.

[10]  P. Sanchaisuriya,et al.  Hemoglobin profiles and hematologic features of thalassemic newborns: application to screening of alpha-thalassemia 1 and hemoglobin E. , 2008, Archives of pathology & laboratory medicine.

[11]  C. Fisher,et al.  Hb Bart's in Cord Blood: An Accurate Indicator of α-Thalassemia , 2006, Hemoglobin.

[12]  V. Chan,et al.  Hemoglobin H disease: not necessarily a benign disorder. , 2003, Blood.

[13]  V. Chan,et al.  Genetic and clinical features of hemoglobin H disease in Chinese patients. , 2000, The New England journal of medicine.

[14]  F. Cotton,et al.  Automated capillary electrophoresis in the screening for hemoglobinopathies. , 2013, Methods in molecular biology.

[15]  P. Giordano.  Newborn screening for hemoglobinopathies using capillary electrophoresis. , 2013, Methods in molecular biology.