title: The first study on nucleotide-level identification of Hb Koriyama in a patient with severe hemolytic anemia.
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.
authors.affiliation: Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.
authors.forename: Seungman
authors.initials: S
authors.lastname: Park
authors.forename: Jun Eun
authors.initials: JE
authors.lastname: Park
authors.forename: Sung Im
authors.initials: SI
authors.lastname: Cho
authors.forename: Yongbum
authors.initials: Y
authors.lastname: Jeon
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
authors.forename: Moon-Woo
authors.initials: MW
authors.lastname: Seong
mesh_terms: D000595:Amino Acid Sequence; D000743:Anemia, Hemolytic / Q000097:blood / Q000175:diagnosis*; D002648:Child; D005260:Female; D020440:Gene Duplication; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D017422:Sequence Analysis, DNA
chemical_list: D006455:Hemoglobins, Abnormal; C057242:hemoglobin Koriyama