The First Study on Nucleotide-level Identification of Hb Koriyama in a Patient with Severe Hemolytic Anemia
Annals of Laboratory Medicine
; : 99-101, 2012.
Article
em En
| WPRIM
| ID: wpr-43977
Biblioteca responsável:
WPRO
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.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Hemoglobinas Anormais
/
Dados de Sequência Molecular
/
Sequência de Aminoácidos
/
Análise de Sequência de DNA
/
Duplicação Gênica
/
Heterozigoto
/
Anemia Hemolítica
/
Mutação
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
Annals of Laboratory Medicine
Ano de publicação:
2012
Tipo de documento:
Article