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Rare hemoglobin variant Hb Yaizu observed in Turkey

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dc.contributor.author Atalay, Erol Ömer
dc.contributor.author Atalay, Ayfer
dc.contributor.author Koyuncu, H.
dc.contributor.author Öztürk, O.
dc.contributor.author Köseler, Aylin
dc.contributor.author Özkan, A.
dc.contributor.author Demirtepe, Sanem
dc.date.accessioned 2019-08-16T12:16:27Z
dc.date.available 2019-08-16T12:16:27Z
dc.date.issued 2008
dc.identifier.issn 10117571 (ISSN)
dc.identifier.uri http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/7140
dc.description.abstract Objective: To determine the characteristic features of the rare hemoglobin (Hb) variant Hb Yaizu to enable laboratory diagnosis of the hemoglobin variants during screening programs. Materials and Methods: Genomic DNA was obtained from the 4 members of a family living in Denizli province, an Aegean region of Turkey. Blood cell counts, hemoglobin composition, hemoglobin electrophoresis (both alkaline and acid), HPLC analysis, DNA sequencing and beta globin gene cluster haplotypes were done. Results: Hb Yaizu carriers were apparently healthy individuals. Hb Yaizu was slightly faster than Hb S at alkaline pH, but slower than Hb S at acidic pH in hemoglobin electrophoresis. An abnormal hemoglobin peak was observed with a retention time of 4.77 min in HPLC analysis attributed to Hb Yaizu. Two members of the family were heterozygous Hb Yaizu [beta 79(EF3) Asp>Asn] confirmed by DNA sequencing. The mutation was found to be linked with the Mediterranean haplotype I [+ - - ++]. Conclusion: We have presented the details of Hb Yaizu, a rare hemoglobin variant that may be important to hemoglobinopathy screening programs, although its clinical significance is unclear. Copyright © 2008 S. Karger AG.
dc.language.iso English
dc.relation.isversionof 10.1159/000129613
dc.rights info:eu-repo/semantics/openAccess
dc.subject Abnormal hemoglobin
dc.subject Hemoglobin Yaizu
dc.subject High performance liquid chromatography
dc.subject Laboratory diagnosis
dc.subject Premarital screening
dc.subject genomic DNA
dc.subject hemoglobin variant
dc.subject adolescent
dc.subject adult
dc.subject article
dc.subject blood cell count
dc.subject controlled study
dc.subject DNA sequence
dc.subject electrophoresis
dc.subject female
dc.subject gene cluster
dc.subject haplotype
dc.subject hemoglobinopathy
dc.subject high performance liquid chromatography
dc.subject human
dc.subject pH
dc.subject screening
dc.subject Turkey (republic)
dc.subject Base Sequence
dc.subject Blood Cell Count
dc.subject Chromatography, High Pressure Liquid
dc.subject Electrophoresis
dc.subject Female
dc.subject Hemoglobins, Abnormal
dc.subject Humans
dc.subject Infant, Newborn
dc.subject Multigene Family
dc.subject Mutation
dc.subject Neonatal Screening
dc.subject Pedigree
dc.subject Pilot Projects
dc.subject Variation (Genetics)
dc.title Rare hemoglobin variant Hb Yaizu observed in Turkey
dc.type Article
dc.relation.journal Medical Principles and Practice
dc.contributor.authorID 0000-0001-6272-9380
dc.contributor.authorID 0000-0003-4832-0436
dc.contributor.authorID 0000-0001-7987-9078
dc.identifier.volume 17
dc.identifier.issue 4
dc.identifier.startpage 321
dc.identifier.endpage 324
dc.relation.publicationCategory Uluslararası Hakemli Dergi
dc.identifier.index Scopus
dc.identifier.index WOS
dc.identifier.index PubMed

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