Misdiagnosis of Hb constant spring (alpha142, Term-->Gln, TAA-->CAA in alpha2) in a Hb H (beta4) disease child.
Hb Constant Spring (Hb CS; alpha142, Term-->Gln, TAA-->CAA in alpha2) is the most prevalent nondeletional alpha-thalassemia (thal) in Southeast Asian populations. It is difficult to detect on electrophoresis in its heterozygous state because of the low Hb CS levels. We found a case with Hb H (beta4) disease who, at birth, was initially assumed to have deletional alpha-thal mutations, but eventually proved to have a Hb CS defect.
Li
Dongzhi
D
Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Medical College, Guangzhou, Guangdong, PR China. dongzhi3@yahoo.com.cn
Liao
Can
C
Li
Jian
J
D002675:Child, Preschool; D003951:Diagnostic Errors; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D017085:alpha-Thalassemia / Q000175:diagnosis*
D006455:Hemoglobins, Abnormal; C035541:Hemoglobin Constant Spring