The First Study on Nucleotide-level Identification of Hb Koriyama in a Patient with Severe Hemolytic Anemia.
- Author:
Seungman PARK
1
;
Jun Eun PARK
;
Sung Im CHO
;
Yongbum JEON
;
Sung Sup PARK
;
Moon Woo SEONG
Author Information
- Publication Type:Case Reports
- Keywords: Hemoglobinopathy; Hemoglobin variant; Hb Koriyama
- MeSH: Amino Acid Sequence; Anemia, Hemolytic/blood/*diagnosis; Child; Female; Gene Duplication; Hemoglobins, Abnormal/*genetics; Heterozygote; Humans; Molecular Sequence Data; Mutation; Sequence Analysis, DNA
- From:Annals of Laboratory Medicine 2012;32(1):99-101
- CountryRepublic 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.
