Back to Search
Start Over
Newborn screening for Hb H disease by determination of Hb Bart's using the Sebia capillary electrophoresis system in southern China.
- Source :
-
Hemoglobin [Hemoglobin] 2014; Vol. 38 (1), pp. 73-5. Date of Electronic Publication: 2013 Nov 14. - Publication Year :
- 2014
-
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.
- Subjects :
- Amino Acid Substitution
China
Hemoglobin H genetics
Hemoglobins, Abnormal genetics
Humans
Infant, Newborn
Mutation
alpha-Globins chemistry
alpha-Globins genetics
alpha-Thalassemia genetics
Electrophoresis, Capillary
Hemoglobin H chemistry
Hemoglobins, Abnormal chemistry
Neonatal Screening
alpha-Thalassemia diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 1532-432X
- Volume :
- 38
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Hemoglobin
- Publication Type :
- Academic Journal
- Accession number :
- 24229410
- Full Text :
- https://doi.org/10.3109/03630269.2013.853674