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1.
Ann Hematol ; 99(10): 2295-2301, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32844323

RESUMO

Early detection of individuals with hereditary hemochromatosis (HH) is important to manage iron levels and prevent future organ damage. Although the HFE mutations that cause most cases of HH have been identified, their geographic distribution is highly variable, and their contribution to iron overload is not fully understood. All new registered blood donors at the Sahlgrenska University hospital between 1998 and 2015 were included in the study. Donors with signs of iron overload at baseline and subsequent follow-up testing were recommended genotyping of the HFE gene. Of the 50,493 donors that were included in the study, 950 (1.9%) had signs of iron overload on both test occasions. Of the 840 donors with iron overload that performed HFE genotyping, 117 were homozygous for C282Y, and 97 were compound heterozygotes. The prevalence of C282Y homozygosity was 0.23%. Iron overload screening effectively detects individuals at risk of carrying the C282Y mutation of the HFE gene and enables early treatment to prevent HH complications.


Assuntos
Doadores de Sangue , Seleção do Doador/métodos , Proteína da Hemocromatose/genética , Hemocromatose/diagnóstico , Mutação de Sentido Incorreto , Adulto , Diagnóstico Precoce , Feminino , Ferritinas/sangue , Frequência do Gene , Genótipo , Hemocromatose/sangue , Hemocromatose/genética , Humanos , Masculino , Pessoa de Meia-Idade , Avaliação de Programas e Projetos de Saúde , Suécia/epidemiologia , Adulto Jovem
2.
Biomed Microdevices ; 17(5): 95, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26315975

RESUMO

This work presents the development of a miniaturized system for removing plasma proteins and other low-molecular-weight compounds from red blood cell (RBC) concentrate in a simple one-step-process using integrated ultrasound. The technology utilizes the principles of acoustophoresis to transfer the RBCs from the original plasma-containing solution into a protein-free SAG-M additive solution in a continuous flow process. The preparation of protein free RBC concentrate is important for blood transfusion to patients suffering from immunoglobulin A (IgA)-deficiency and developing antibodies against IgA. We show a nearly complete removal of both albumin and IgA from concentrated RBCs via this one-step-processes in samples obtained from RBC concentrate. The cell recovery of our technology is close to 97%, compared to just above 90% of the current procedure of repeated dilution and centrifugation steps. This work clearly shows the potential of integrated acoustophoresis in a miniaturized system for clinical applications.


Assuntos
Remoção de Componentes Sanguíneos/instrumentação , Proteínas Sanguíneas/isolamento & purificação , Eletroforese/instrumentação , Eritrócitos/química , Dispositivos Lab-On-A-Chip , Sonicação/instrumentação , Acústica/instrumentação , Desenho de Equipamento , Análise de Falha de Equipamento , Eritrócitos/efeitos da radiação , Ondas de Choque de Alta Energia , Humanos , Miniaturização
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