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The first study on nucleotide-level identification of Hb Koriyama in a patient with severe hemolytic anemia

Authors
Park, S; Park, JE; Cho, SI; Jeon, Y; Park, SS; Seong, MW
Citation
Annals of laboratory medicine, 32(1):99-101, 2012
Journal Title
Annals of laboratory medicine
ISSN
2234-38062234-3814
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.
MeSH terms
Amino Acid SequenceAnemia, Hemolytic/blood/*diagnosisChildFemaleGene DuplicationHemoglobins, Abnormal/*geneticsHeterozygoteHumansMolecular Sequence DataMutationSequence Analysis, DNA
DOI
10.3343/alm.2012.32.1.99
PMID
22259788
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Pediatrics & Adolescent Medicine
AJOU Authors
박, 준은
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