Your browser doesn't support javascript.
loading
Rare bleeding disorders: Real-world data from a Spanish tertiary hospital.
Martínez-Carballeira, Daniel; Caro, Alberto; Bernardo, Ángel; Corte, José Ramón; Iglesias, José Carlos; Hernández de Castro, Isabel Asunción; Gutiérrez, Laura; Soto, Inmaculada.
Afiliação
  • Martínez-Carballeira D; Department of Hematology, Hospital Universitario Central de Asturias (HUCA), 33011 Oviedo, Spain; Platelet Research Lab, Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, Spain. Electronic address: daniel_mc@hotmail.es.
  • Caro A; Department of Hematology, Hospital Universitario Central de Asturias (HUCA), 33011 Oviedo, Spain; Platelet Research Lab, Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, Spain.
  • Bernardo Á; Department of Hematology, Hospital Universitario Central de Asturias (HUCA), 33011 Oviedo, Spain; Platelet Research Lab, Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, Spain.
  • Corte JR; Department of Hematology, Hospital Universitario Central de Asturias (HUCA), 33011 Oviedo, Spain.
  • Iglesias JC; Department of Hematology, Hospital Universitario Central de Asturias (HUCA), 33011 Oviedo, Spain.
  • Hernández de Castro IA; Department of Hematology, Hospital Universitario Central de Asturias (HUCA), 33011 Oviedo, Spain.
  • Gutiérrez L; Platelet Research Lab, Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, Spain; Department of Medicine, University of Oviedo, 33006 Oviedo, Spain.
  • Soto I; Department of Hematology, Hospital Universitario Central de Asturias (HUCA), 33011 Oviedo, Spain; Platelet Research Lab, Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, Spain.
Blood Cells Mol Dis ; 106: 102837, 2024 May.
Article em En | MEDLINE | ID: mdl-38387429
ABSTRACT

INTRODUCTION:

Due to their low prevalence, rare bleeding disorders (RBDs) remain poorly characterized.

AIM:

To gain insight of RBDs through our clinical practice.

METHODS:

Retrospective study of the medical records of RBD patients followed up at the Central University Hospital of Asturias between January 2019 and December 2022.

RESULTS:

A total of 149 patients were included. Factor (F) VII (44 %) and FXI (40 %) deficiencies were the most common diagnosed coagulopathies. Most of the patients were asymptomatic (60.4 %) and the most frequent type of bleeding were mucocutaneous and after surgery. All replacement treatments were administered on demand and no patient was on a prophylaxis regimen. Currently available products were safe; allergic reactions after administration of plasma were the most frequent complication. Genetic analysis, carried out on 55 patients (37 %), showed that the most frequent mutations in RBDs are of missense type (71.9 %). We identified 11 different novel genetic alterations in affected genes. The c.802C > T (p.Arg268Cys) variant, previously described, was identified in 71 % (15 of 21) of the patients with FXI deficiency genotyped and none were related (probable founder effect).

CONCLUSION:

Our study on an unusual large single center cohort of RBD patients portrays location-dependent distinct genetic drives and clinical practice particularities.
Assuntos
Palavras-chave

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos da Coagulação Sanguínea / Deficiência do Fator XI Limite: Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos da Coagulação Sanguínea / Deficiência do Fator XI Limite: Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article