RESUMO
Hb Tunis [beta124(H2)Pro>Ser] was reported from Tunisia in 1988. This hemoglobin variant was detected by isoelectric focusing moving just ahead of Hb A. It cannot be identified by standard hemoglobin electrophoresis due to its similar mobility to Hb A. It has normal stability and oxygen affinity and does not produce any clinical symptoms. Here, we report a heterozygous Hb Tunis [beta124(H2)Pro>Ser] case discovered for the first time in Turkey in a premarital screening program. This hemoglobin variant can be identified with high performance liquid chromatography analysis confirmed with DNA sequencing. We emphasize in our study the importance of an interdisciplinary collaborative study at the provincial basis for the success of the hemoglobinopathy control program.
RESUMO
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.
Assuntos
Variação Genética/genética , Hemoglobinas Anormais/genética , Sequência de Bases , Contagem de Células Sanguíneas , Cromatografia Líquida de Alta Pressão , Eletroforese , Feminino , Humanos , Recém-Nascido , Família Multigênica , Mutação , Triagem Neonatal , Linhagem , Projetos PilotoRESUMO
Behçet's Disease (BD) is a multisystemic inflammatory disorder as a triad of symptoms including recurrent oral and genital aphthous ulceration, and uveitis with unknown pathogenesis. Many researchers have tried to investigate the association of HLA-B51 gene with the BD. We aimed to investigate the association of the HLA-B51 gene and its expression, also polymorphic structure by PCR, RT-PCR and sequence specific oligonucleotide primers and probes in BD patients (n: 35) and control group (n: 50). According to our results, we did not observe any association in between HLA-B51 gene, its polymorphism, expression and BD patients.
Assuntos
Síndrome de Behçet/genética , Síndrome de Behçet/imunologia , Regulação da Expressão Gênica/genética , Antígenos HLA-B/genética , Antígenos HLA-B/imunologia , Sítios de Ligação , Feminino , Antígeno HLA-B51 , Saúde , Humanos , Masculino , Proteínas Monoméricas de Ligação ao GTP/genética , Proteínas Monoméricas de Ligação ao GTP/metabolismo , RNA Mensageiro/genética , Receptores de Antígenos de Linfócitos T/genética , Receptores de Antígenos de Linfócitos T/imunologia , Turquia , Microglobulina beta-2/genética , Microglobulina beta-2/metabolismoRESUMO
Since the first observation of hemoglobin S (Hb S) in Turkey by Aksoy, the number of hemoglobin variants reported was increased. Beta globin gene cluster haplotypes are being used to determine the origin of the mutations under interest. We studied the beta globin gene cluster haplotypes for the six different abnormal hemoglobins which are Hb S, Hb D-Los Angeles, Hb G-Coushatta, Hb E, Hb E-Saskatoon and Hb J-Iran observed in Turkey. In this study, we report two novel haplotypes [- + + - - - +] and [- + - + + +] in association with the Hb G-Coushatta mutation. The haplotype for the Hb J-Iran is also reported as [- + - + + + +] for the first time in world populations from Turkey.
