Rare hemoglobin variant Hb Yaizu observed in Turkey

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

Hb D-Los Angeles [beta121(GH4)Glu>Gln] and Hb Beograd [beta121(GH4)Glu>Val]: Implications for their laboratory diagnosis and genetic origins

Objective: The aim of this study was to determine the laboratory diagnosis and genetic origins of the hemoglobin (Hb) variants, Hb D-Los Angeles and Hb Beograd observed frequently in our region. Material and Methods: Hb variants were investigated in one Hb D-Los Angeles and two Hb Beograd families. These families were unrelated with each other. For the determination of Hb variants, alkaline/acid electrophoresis, HPLC, DE-52 micro-column chromatography procedures were applied. Mutations were determined by non-radioactive fluorescence automated DNA sequencing. Beta globin gene cluster haplotypes were identified by RFLP analysis at seven loci known as ε-Hinc II, Gγ-Hind III, Aγ-Hind III, 5′ψβ-Hinc II, 3′ψβ-Hinc II, β-Ava II ve 3′β-Hinf I. Results: Three novel beta globin gene cluster haplotypes were identified as in relation with Hb D-Los Angeles [--+-+++], Hb Beograd [+----++ and -+-(+/-)(+/-)+(+/-)]. These haplotypes were reported for the first time in the world population Conclusion: In this study we emphasize the importance of DNA seqeuncing and other laboratory procedures for the identification of Hb variants in premarital diagnosis. On the other hand we discuss also the genetic origins of these Hb variants

HbA2-Yokoshima (delta 25(B7)Gly >Asp) and Hb A2-Yialousa (delta 27(B9)Ala>Ser) in Turkey

Abstract Not Availabl

Behçet hastalarında HLA-B51 genotip ve ekspresyon sıklığının incelenmesi

İpek Yolu boyunca dağılım gösteren Behçet hastalığının etyopatogenezi tam olarak açıklanmamıştır. Multisistemik bir hastalık olan Behçet hastalığında genetik ve çevresel etkenlerin katkıları araştırılmaktadır. Behçet hastalığı ile HLA-B51 bağlantısının açıklanması hastalığın genetik yatkınlığını işaret etmiştir. Bu araştırmada Denizli bölgesindeki Behçet hastalarında HLA-B51 gen ekspresyon oranı ile HLA-B51 allel dağılımlarını araştırdık. 50 normal sağlıklı birey ile 35 Behçet hastalığı tanısı almış kişiden alınan kan örnekleri araştırmamızda kullanıldı. HLA-B51 genini çoğaltabilecek primerler ile bölgeye özgün problar laboratuvarımızda tasarlanmıştır. HLA-B51 bölgesi için hazırlanan primerler kullanılarak yapılan DNA-PCR yöntemi ile normal sağlıklı bireylerde %58 oranında, Behçet hastalarında %63 oranında bölge çoğaltımı elde edilmiştir. RT-PCR yöntemi ile 29 normal sağlıklı bireyde %90 oranında, 22 Behçet hastasında %77 oranında bölge çoğaltımı elde edilmiştir. Prob hibridizasyon sonuçlarına göre normal sağlıklı bireylerde %8 oranında B*51011, %2 oranında B*5115 ve B*5105, Behçet hastalarında %11 oranında B*51011, %3 oranında B*5115veB*5129 alicilerini taşıdığı saptanmıştır. Sonuç olarak, Behçet hastaları ile sağlıklı normal gruplardaki HLA-B51 ekspresyonunda ve HLA-B51 alicilerinin dağılımlarında önemli bir farklılık olmadığı kanısına vardık

Surface plasmon resonance-based molecular detection of Hb S [ß6(A3)Glu›Val, GAG›GTG] at the gene level

The surface plasmon resonance (SPR) approach, being a relatively novel biophysical method, is used to detect many different targets by biomolecular interaction. The SPR system uses optical and evanescent wave phenomenon. This approach does not need any labels, such as enzymes or isotopes, and the monitored interactions are in real time. In DNA-DNA interaction, the SPR approach is Tm-independent. Here we report our preliminary results for the molecular detection of the Hb S (G A G ›G T G) mutation at codon 6 of the human ß-globin gene. Our preliminary results show that the SPR approach could be applied as an inexpensive and fast routine test system for the molecular diagnosis of abnormal hemoglobins (Hbs), especially in premarital screening programs. Copyright © Taylor ; Francis Group, LLC