Inherited coagulation disorders in Turkish children: A retrospective, single-center cohort study
| Autor: | Ülker Koçak, Zühre Kaya, Türkiz Gürsel, Melek Isik, Idil Yenicesu, Ebru Yılmaz Keskin, Nergiz Öner, Burcu Belen Apak, Meryem Albayrak |
|---|---|
| Přispěvatelé: | KKÜ, Kırıkkale Üniversitesi |
| Rok vydání: | 2020 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Turkey Hemophilic arthropathy 030204 cardiovascular system & hematology Single Center Cohort Studies 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine hemic and lymphatic diseases Chronic arthropathy Von Willebrand disease medicine Humans Inherited Coagulation Disorders Children Retrospective Studies Factor VII business.industry Mortality rate Hematology Blood Coagulation Disorders medicine.disease Inherited coagulation disorders chemistry Child Preschool Inherited bleeding disorders population characteristics Female business 030215 immunology Cohort study |
| Zdroj: | Transfusion and Apheresis Science. 59:102728 |
| ISSN: | 1473-0502 |
| DOI: | 10.1016/j.transci.2020.102728 |
| Popis: | Albayrak, Meryem/0000-0003-2711-5150 WOS:000538124200008 PubMed: 31980335 Objective: This study aims to investigate the distribution, clinical characteristics and outcome of inherited coagulation disorders (ICD) in Turkish children. Subjects and methods: Data from all children (age < 18 years) with ICD examined in our center were retrospectively reviewed. Results: There were 403 children with ICD (233 males and 170 females) with a median age of four years at diagnosis. The percentages of von Willebrand disease (vWd), hemophilia and rare bleeding disorders (RBD) were 40 %, 34 % and 26 %, type-1, type-2 and type-3 vWd were 63 % 17 % and 20 %, hemophilia A and B were 84 % and 16 %, and severe, moderate and mild hemophilia were 48 %, 30 % and 22 %, respectively. Factor VII and FXI deficiencies were the most prevalent, comprising 56 % and 22 % of all children with RBD, respectively. Parental consanguinity rates were 72 % in type-3 vWd and 61 % in severe RBD. The overall prevalence of gastrointestinal bleedings was 4.5 % (18/403), intracranial bleeding (ICB) was 4.96 % (20/403), mortality from ICB was 30 % (6/20) and the overall mortality rate was 1.49 % (6/403). No life-threatening bleeding was seen during regular prophylaxis. Chronic arthropathy prevalence in severe hemophilia was 8 % with primary prophylaxis and 53 % with demand therap. Inhibitor prevalence was 14 % in hemophilia-A and 5 % in hemophiliaB. Conclusions: These data show that vWd is the most common ICD, type-3 vWd and RBD are prevalent due to frequent consanguineous marriages and diagnosis of ICD is substantially delayed in Turkish children. Prophylactic replacement therapy prevents occurrence of life-threatening bleedings and reduces the development of hemophilic arthropathy. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect