Rare hemoglobin variant Hb yaizu observed in Turkey

To determine the characteristic features of the rare hemoglobin [Hb] variant Hb Yaizu to enable laboratory diagnosis of the hemoglobin variants during screening programs. 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. 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 mm 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 [+----++]. 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

Angiotensin-Converting Enzyme 1/D polymorphism in Behcet's disease

To investigate a potential relationship between I/D polymorphism within intron 16 of the angiotensin-converting enzyme [ACE] gene located on human chromosome 17 and Behcet's disease. Materials and Genomic DNA was obtained from 35 Turkish patients diagnosed with Behcet's disease according to the International Study Group criteria and 150 healthy individuals. Polymerase chain reaction was used to detect the presence of I and D [insertion and deletion] alleles in intron 16 of the ACE gene in these DNA samples. We found differences in ACE I/D polymorphism between Behcet's disease and healthy controls [x2 = 4.61, d.f. = 1, p = 0.044]. In Behcet's disease patients, the D allele frequency was 84.3% and I allele frequency 15.7%. An association between Behcet's disease and ACE polymorphism may provide a useful basis for future molecular studies and therapeutic approaches in this complex disease