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1.
Scand J Clin Lab Invest ; 83(1): 51-57, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36633442

RESUMO

Previous studies have identified occasional cases of heterozygous Hb Tacoma in areas that have attracted Finnish immigrants, especially in Sweden and North America, but large studies of this slightly unstable beta variant in vitro have not been carried out. Here we determined the prevalence of hemoglobin variants across Finland. A total of 5059 samples from 11 different hospital districts were analyzed using HbA1c capillary electrophoresis and reviewed for atypical profiles (HbA1c, Capillarys 3 Tera, Sebia). 38 heterozygous Hb Tacoma cases were found (0.75%). The prevalence was highest in South Ostrobothnia (2.0%), located in western Finland, and second highest in the neighboring provinces (1.0-1.4%), but only two districts were devoid of variants. Heterozygous Hb Tacoma was confirmed by genetic testing (NM_000518.5(HBB):c.93G > T (p.Arg31Ser)). In addition, five other variants were found, suggestive of HbE, Hb Helsinki (two cases) and an alpha variant, as interpreted from the electropherograms. The fifth variant, belonging to the South Ostrobothnian cohort, remained unknown at the time of the initial analyses, but was later interpreted as homozygous Hb Tacoma and confirmed by hemoglobin fraction analysis (Hemoglobin(E), Capillarys 3 Tera). In a subsequent retrospective study of the electropherograms of routine HbA1c diagnostics, altogether nine homozygous Hb Tacoma cases were identified in South Ostrobothnia. While heterozygous Hb Tacoma is usually an incidental finding, it interferes with several HbA1c assays. The present study is the first demonstration of homozygous Hb Tacoma. The clinical presentations of homozygous Hb Tacoma are not known and need to be addressed in future studies.


Assuntos
Hemoglobinas Anormais , Humanos , Hemoglobinas Glicadas , Finlândia/epidemiologia , Prevalência , Estudos Retrospectivos , Hemoglobinas Anormais/genética , Hemoglobinas Anormais/análise , Eletroforese Capilar/métodos , Cromatografia Líquida de Alta Pressão/métodos
2.
Euro Surveill ; 24(22)2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31164192

RESUMO

Since February 2019, over 160 Chlamydia trachomatis (CT) cases testing negative or equivocal by Aptima Combo 2 (AC2) but positive by Aptima CT test run with Panther instruments occurred in Finland. The AC2 test targets chlamydial 23S rRNA while the CT test targets 16S rRNA. Sequencing of 10 strains revealed a nucleotide substitution in 23S rRNA. The significance of this for the failure of the AC2 test to detect the variant is not yet known.


Assuntos
Infecções por Chlamydia/diagnóstico , Infecções por Chlamydia/genética , Chlamydia trachomatis/genética , Adolescente , Adulto , Técnicas Bacteriológicas/métodos , Técnicas Bacteriológicas/normas , Infecções por Chlamydia/epidemiologia , Chlamydia trachomatis/isolamento & purificação , Reações Falso-Negativas , Feminino , Finlândia/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Kit de Reagentes para Diagnóstico/normas , Adulto Jovem
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