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
in English
| WPRIM
| ID: wpr-43977
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Hemoglobins, Abnormal
/
Molecular Sequence Data
/
Amino Acid Sequence
/
Sequence Analysis, DNA
/
Gene Duplication
/
Heterozygote
/
Anemia, Hemolytic
/
Mutation
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Child
/
Female
/
Humans
Language:
English
Journal:
Annals of Laboratory Medicine
Year:
2012
Type:
Article
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