Hemoglobin Constant Spring (Hb CS) Missed by HPLC in an Hb E Trait Pregnancy Resulting in Hb H-CS Disease in a Thai Girl: Utility of Capillary Electrophoresis

作者：Pornprasert Sakorn^*; Saoboontan Supansa; Wiengkum Thanatcha

来源：Indian Journal of Hematology and Blood Transfusion, 2016, 32(S1): S254-S257.

DOI：10.1007/s12288-015-0532-3

• Capillary electrophoresis
• Hemoglobin constant spring
• Hb E
• Hb H-CS
• High performance liquid chromatography

Hemoglobin Constant Spring [Hb CS; alpha 142, Term -> Gln (TAA>CAA IN alpha 2)] is often missed by routine laboratory testing, especially in subjects with co-inheritance of beta-thalassemia or beta-variants. We reported the case of a 1-year-old female with Hb H-CS disease who was born from a father with heterozygous of alpha-thalassemia-1 Southeast Asian type deletion and a mother with the combination of Hb CS and Hb E [beta 26 (B8) Glu -> Lys, GAG>AAG] trait. A very tiny peak of Hb CS of the mother was easily ignored on the high performance liquid chromatography chromatogram while it was clearly seen on the capillary electrophoresis (CE) electrophoregram. Therefore, the CE is useful in screening for heterozygous Hb CS in a person with Hb E trait. This is of potential benefit for prevention of new cases of Hb H-CS disease.

• 出版日期2016-6