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.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Liao C,Zhou JY,Xie XM,Tang HS,Li R,Li DZdoi
10.3109/03630269.2013.853674subject
Has Abstractpub_date
2014-01-01 00:00:00pages
73-5issue
1eissn
0363-0269issn
1532-432Xjournal_volume
38pub_type
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