Annals of Laboratory Medicine  2012;32(1):99-101

doi:10.3343/alm.2012.32.1.99

The First Study on Nucleotide-level Identification of Hb Koriyama in a Patient with Severe Hemolytic Anemia.

Seungman PARK 1 ; Jun Eun PARK ; Sung Im CHO ; Yongbum JEON ; Sung Sup PARK ; Moon Woo SEONG

Affiliations

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Keywords

Hemoglobinopathy; Hemoglobin variant; Hb Koriyama

Country

Republic of Korea

Language

English

Abstract

Hereditary hemolytic anemia comprises a group of disorders in which red blood cells are destroyed faster than they are produced in the bone marrow; various hereditary factors can cause this condition, including production of defective Hb and erythrocyte membrane. Recently, we identified Hb Koriyama, a rare Hb variant that was undetectable in Hb electrophoresis and stability tests, in a patient with severe hemolytic anemia. This is the first study to show the nucleotide-level sequence variations in Hb Koriyama. On the basis of our results, we conclude that unstable Hb may not be detectable by conventional Hb electrophoresis or stability tests. Thus, we suggest further genetic workup in cases of unexplained hereditary hemolytic anemia.