Rare bleeding disorders : Real-world data from a Spanish tertiary hospital
Copyright © 2024 University of Oviedo. Published by Elsevier Inc. All rights reserved..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:106 |
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| Enthalten in: |
Blood cells, molecules & diseases - 106(2024) vom: 15. März, Seite 102837 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Martínez-Carballeira, Daniel [VerfasserIn] |
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| Links: |
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| Themen: |
Bleeding symptoms |
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| Anmerkungen: |
Date Completed 29.03.2024 Date Revised 29.03.2024 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.bcmd.2024.102837 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM368774155 |
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| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2024 University of Oviedo. Published by Elsevier Inc. All rights reserved. | ||
| 520 | |a INTRODUCTION: Due to their low prevalence, rare bleeding disorders (RBDs) remain poorly characterized | ||
| 520 | |a AIM: To gain insight of RBDs through our clinical practice | ||
| 520 | |a 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 | ||
| 520 | |a 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) | ||
| 520 | |a CONCLUSION: Our study on an unusual large single center cohort of RBD patients portrays location-dependent distinct genetic drives and clinical practice particularities | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Bleeding symptoms | |
| 650 | 4 | |a Diagnosis | |
| 650 | 4 | |a Founder mutation | |
| 650 | 4 | |a Genotype | |
| 650 | 4 | |a Novel mutation | |
| 650 | 4 | |a Rare bleeding disorders | |
| 650 | 4 | |a Rare coagulation disorders | |
| 650 | 4 | |a Tertiary hospital | |
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| 700 | 1 | |a Corte, José Ramón |e verfasserin |4 aut | |
| 700 | 1 | |a Iglesias, José Carlos |e verfasserin |4 aut | |
| 700 | 1 | |a Hernández de Castro, Isabel Asunción |e verfasserin |4 aut | |
| 700 | 1 | |a Gutiérrez, Laura |e verfasserin |4 aut | |
| 700 | 1 | |a Soto, Inmaculada |e verfasserin |4 aut | |
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