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.


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 [+----++].


CONCLUSIONS
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.
Department of Biophysics, Faculty of Medicine, Pamukkale University, Denizli, Turkey. eatalay@pau.edu.tr
Erol Omer
EO
Atalay
Ayfer
A
Atalay
Hasan
H
Koyuncu
Onur
O
Oztürk
Aylin
A
Köseler
Anzel
A
Ozkan
Sanem
S
Demirtepe
D001483:Base Sequence; D001772:Blood Cell Count; D002851:Chromatography, High Pressure Liquid; D004586:Electrophoresis; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D005810:Multigene Family; D009154:Mutation; D015997:Neonatal Screening; D010375:Pedigree; D010865:Pilot Projects
D006455:Hemoglobins, Abnormal; C094679:hemoglobin Yaizu