Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/7140
Title: Rare hemoglobin variant Hb Yaizu observed in Turkey
Authors: Atalay, Erol Ömer
Atalay, Ayfer
Koyuncu, H.
Öztürk, O.
Köseler, Aylin
Özkan, A.
Demirtepe, Sanem
Keywords: Abnormal hemoglobin
Hemoglobin Yaizu
High performance liquid chromatography
Laboratory diagnosis
Premarital screening
genomic DNA
hemoglobin variant
adolescent
adult
article
blood cell count
controlled study
DNA sequence
electrophoresis
female
gene cluster
haplotype
hemoglobinopathy
high performance liquid chromatography
human
pH
screening
Turkey (republic)
Base Sequence
Blood Cell Count
Chromatography, High Pressure Liquid
Electrophoresis
Female
Hemoglobins, Abnormal
Humans
Infant, Newborn
Multigene Family
Mutation
Neonatal Screening
Pedigree
Pilot Projects
Variation (Genetics)
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.
URI: https://hdl.handle.net/11499/7140
https://doi.org/10.1159/000129613
ISSN: 1011-7571
Appears in Collections:PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Tıp Fakültesi Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection

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