A novel hemoglobin variant beta135(H13) Ala > Asp identified in an asymptomatic Korean family by direct sequencing: suggesting a new insight into Hb Beckman mutation

作者：Kim S Y; Kim G Y J; Jo S A; Lee E H; Cho E H; Hwang S H^*; Lee E Y

来源：International Journal of Laboratory Hematology, 2010, 32(1): E175-E178.

DOI：10.1111/j.1751-553X.2009.01156.x

• Hemoglobins
• mutation
• beta-thalassemia
• chromatography
• high pressure liquid

P>This article describes the clinical observation of a novel hemoglobin (Hb) variant found during the course of routine blood testing on a 61-year-old subject. The Hb variant was observed during HbA1c testing by ion-exchange high-performance liquid chromatography. Alkaline electrophoresis and DNA sequencing confirmed the presence of a new Hb variant, HBB:c.407C > A (p.Ala136Asp). This mutation has been reported to induce Hb Beckman variant in the Globin Gene Server. However, it was different from the only experimental report for Hb Beckman by Rahbar, Lee & Asmeron (p.Ala136Glu; Hb Beckman alpha2 beta2 135(H13) ala-to-glu: a new unstable variant and reduced oxygen affinity. Blood 78, 204a). And our case was asymptomatic with normal lab findings, while Rahbar et al.'s case showed the clinical manifestations of chronic anemia. This would be a report for a novel Hb variant suggesting new insight of Hb Beckman variant. This would be a report of a novel Hb variant suggesting new insights into Hb Beckman variant.

• 出版日期2010-2