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401902

Rare Inherited Bleeding Disorders and rare Inherited Platelet Function Disorders in children -A Single Center Experience

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Last updated: 07 Jan 2025

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Abstract

An accurate assessment of the degree of bleeding is essential for the prompt identification and suitable treatment of hereditary bleeding and platelet abnormalities so we aim in our study to assess the prevalence, clinical pattern and the degree of bleeding using two different bleeding scores in different types of rare inherited bleeding disorders in our institute   Methods: This is A cross sectional study to identify children with rare inherited bleeding and platelet disorders, involving 102 children with rare bleeding disorders was conducted. A thorough history, general examination, and laboratory tests were performed over a period of one-years including all patients diagnosed with inherited platelet's function abnormalities and different types of rare bleeding disorders admitted to our   hematology unit, pediatric department, sohag university during this period. Complete blood count, activated partial thromboplastin time, prothrombin time and specific factor assay. In response, additional tests were done including flow cytometry analysis and platelet function assays. Results: From 102 patients included in our study, 58 patients (56.9%) had inherited platelet function abnormalities (IPFDs) of them 43 patients (74.1%) had Glanzmann thrombasthenia. The remaining 44 patients (43.1%) had different types of rare bleeding disorders. About 80% of the study group reported having a favorable consanguinity history. Conclusion: Glanzman thrombasthenia was the commonest IPFDs in our study and factor 1 deficiency was the commonest rare bleeding disorder.      

DOI

10.21608/azjp.2025.401902

Keywords

ISTH-BAT, SMOG, rare bleeding disorders, rare inherited platelet function disorder

Volume

28

Article Issue

1

Related Issue

52657

Issue Date

2025-01-01

Receive Date

2025-01-01

Publish Date

2025-01-01

Page Start

4,324

Page End

4,342

Print ISSN

1110-7774

Online ISSN

3009-7770

Link

https://azjp.journals.ekb.eg/article_401902.html

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http://journals.ekb.eg?_action=service&article_code=401902

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6

Type

Original Article

Type Code

1,135

Publication Type

Journal

Publication Title

Al-Azhar Journal of Pediatrics

Publication Link

https://azjp.journals.ekb.eg/

MainTitle

Rare Inherited Bleeding Disorders and rare Inherited Platelet Function Disorders in children -A Single Center Experience

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Article

Created At

07 Jan 2025