Hemophilia: Pathophysiology and Diagnosis

• Autor(a) principal: Oliveira, Antônio Bartolomeu Teixeira de
• Data de Publicação: 2022
• Outros Autores: Magalhães, Edivane Queiroz de, Silva, Elizabeth Carvalho da, Silva, Gerson Luiz da Silva e, Ladislau , Rebeca Simão, Silva, Francisco Gabriel Carvalho da, Rodrigues Júnior , Omero Martins
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Research, Society and Development
• Texto Completo: https://rsdjournal.org/index.php/rsd/article/view/34935
• topic: Hemophilia; Coagulation factors; Diagnosis.; Hemofilia; Factores de coagulación; Diagnóstico.; Hemofilia; Fatores de coagulação; Diagnóstico.

Introduction: Hemophilia is a rare, hereditary bleeding disorder characterized by the lack of clotting factors such as factor VIII (Hemophilia A) and factor IX (Hemophilia B), which causes spontaneous bleeding and disabling arthropathies. It can be congenital, being the most common, or acquired. The hereditary form is caused by mutations in the genes that encode these clotting factors, and is a recessive inheritance linked to the X chromosome. The acquired form occurs through autoimmune diseases and is related to the presence of autoantibodies. Objective: the objective of this work is to gather information about hemophilia, discussing the disease from its development to its diagnosis. Methodology: the research was developed through searches on the Scielo (Electronic Library Scientifc Electronic Library Online) and Google academic platforms. Based on a literature review, according to Cunha, Cunha & Alves, (2014). The following descriptors were used: Hemophilia; Coagulation factors; Diagnosis. Conclusion: From the review presented, we can conclude that Hemophilia is a recessive hereditary disease linked to the X chromosome that the carrier does not have or there is imperfect production of factor VIII or factor IX. Furthermore, it can be classified based on the amount of deficient factors circulating in the plasma into three categories: severe (less than 1%); moderate (from 1% to 5%) and mild (above 5%).