Newborn screening for Hb H disease by determination of Hb Bart's using the Sebia capillary electrophoresis system in southern China.
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.
Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center, Guangzhou Medical College , Guangzhou, Guangdong , People's Republic of China.
Can
C
Liao
Jian-Ying
JY
Zhou
Xing-Mei
XM
Xie
Hai-Shen
HS
Tang
Ru
R
Li
Dong-Zhi
DZ
Li
D019943:Amino Acid Substitution; D002681:China; D019075:Electrophoresis, Capillary; D006447:Hemoglobin H / Q000737:chemistry* / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000737:chemistry* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D015997:Neonatal Screening; D055542:alpha-Globins / Q000737:chemistry / Q000235:genetics; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000235:genetics
D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; D006447:Hemoglobin H; C030448:hemoglobin Bart's