Hemoglobin H hydrops fetalis syndrome resulting from the association of the - -SEA deletion and the alphaQuong Szealpha mutation in a Chinese woman.
A case with Hb H hydrops fetalis syndrome resulting from the association of the - -(SEA) deletion and the alpha(Quong Sze)alpha mutation is reported. This is the first description of Hb H hydrops associated with the Hb Quong Sze mutation.
Li
D Z
DZ
Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Medical College, Guangdong, China. dongzhi3@yahoo.com.cn
Liao
C
C
Li
J
J
Xie
X M
XM
Huang
Y N
YN
Wu
Q C
QC
D000328:Adult; D002681:China; D005260:Female; D017353:Gene Deletion; D006580:Genetic Carrier Screening; D006321:Heart / Q000196:embryology; D006447:Hemoglobin H / Q000378:metabolism*; D006801:Humans; D015160:Hydrops Fetalis / Q000097:blood / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D016216:Ultrasonography, Prenatal
D006447:Hemoglobin H