Misdiagnosis of Hb constant spring (alpha 142, Term -> Gln, TAA -> CAA in alpha 2) in a Hb H (beta(4)) disease child

作者：Li, Dongzhi^*; Liao, Can; Li, Jian

来源：Hemoglobin, 2007, 31(1): 105-108.

DOI：10.1080/03630260601059332

Hb Constant Spring (Hb CS; alpha 142, Term -> Gln, TAA -> CAA in alpha 2) is the most prevalent nondeletional alpha-thalassemia (that) 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 (ss(4)) disease who, at birth., was initially assumed to have deletional alpha-thal mutations, but eventually proved to have a Hb CS defect.

• 出版日期2007
• 单位广州市妇女儿童医疗中心