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Rastreio neonatal da doença falciforme em Lubumbashi

Rastreio neonatal da doença falciforme em Lubumbashi

Tina Katamea

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Editorial:
KS OmniScriptum Publishing
Año de edición:
2024
Materia
Medicina: cuestiones generales
ISBN:
9786208085834
54,69 €
IVA incluido
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Sobre IBD

A doença falciforme é uma doença genética autossómica recessiva da hemoglobina. Resulta de uma mutação pontual no 6º codão do gene da beta-globina (no cromossoma 11), seguida da substituição da valina pelo ácido glutâmico na cadeia da hemoglobina. Nos países em desenvolvimento, é frequentemente diagnosticada tardiamente devido ao elevado custo e à complexidade dos métodos de diagnóstico convencionais. O objetivo deste estudo foi determinar a fiabilidade diagnóstica do teste Sickle SCAN® no rastreio neonatal com referência à eletroforese de Hb em Lubumbashi.Este estudo mostrou que o teste Sickle scan é uma ferramenta fiável, benéfica e eficiente que recomendamos para o rastreio sistemático em larga escala da doença falciforme na RDC.

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