The profile of patients with haemophilia managed at a haemophilia treatment centre in Pretoria, Gauteng

Background: Haemophilia A and B are X-linked recessive bleeding disorders resulting from a deficiency of factors VIII and IX, respectively. Early diagnosis and a comprehensive approach to management is mandatory. This study aimed to describe the profile of patients with haemophilia (PWH) managed at...

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Main Authors: Lethukuthula Mafisa, Abegail N. Dlova, Vanessa Moodley
Format: Article
Language:English
Published: AOSIS 2022-10-01
Series:South African Family Practice
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Online Access:https://safpj.co.za/index.php/safpj/article/view/5551
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author Lethukuthula Mafisa
Abegail N. Dlova
Vanessa Moodley
author_facet Lethukuthula Mafisa
Abegail N. Dlova
Vanessa Moodley
author_sort Lethukuthula Mafisa
collection DOAJ
description Background: Haemophilia A and B are X-linked recessive bleeding disorders resulting from a deficiency of factors VIII and IX, respectively. Early diagnosis and a comprehensive approach to management is mandatory. This study aimed to describe the profile of patients with haemophilia (PWH) managed at Dr George Mukhari Academic Hospital (DGMAH) with the view to identify potential areas to improve haemophilia care. Methods: A cross-sectional, descriptive study that retrospectively reviewed clinical and laboratory records of PWH managed at DGMAH haemophilia treatment centre from 01 January 2003 to 31 December 2017. Results: Forty-four males were identified, with the majority being adults (~61%). Haemophilia A patients (~82%) outnumbered those with haemophilia B (~18%). Spontaneous mucocutaneous bleeding was the most frequent presenting feature followed by haemarthrosis. Disease-related complications included joint complications and life-threatening bleeds. There was a delay in diagnosis in 11% PWH. Management included episodic plasma-derived factor replacement and bypassing agents for patients with inhibitors. Only 13% of PWH were on home therapy. Prevalence of inhibitor development was 18%. There was a paucity of recorded data regarding prophylaxis, genetic counselling, psychological and physiotherapy support. Conclusion: The majority of PWH were adults, and haemophilia A was more prevalent than haemophilia B. A delay in haemophilia diagnosis could be addressed by increasing the awareness of haemophilia in health facilities. Expanding home therapy and introducing prophylaxis will likely improve the quality of life in PWH. Study outputs have included compilation of diagnostic and management algorithms to optimise haemophilia care at DGMAH.
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spelling doaj-art-7fca4edaff454125a38dfc6bfe2fdc502025-08-20T03:06:51ZengAOSISSouth African Family Practice2078-61902078-62042022-10-01641e1e710.4102/safp.v64i1.55514267The profile of patients with haemophilia managed at a haemophilia treatment centre in Pretoria, GautengLethukuthula Mafisa0Abegail N. Dlova1Vanessa Moodley2Department of Haematological Pathology, School of Medicine, Sefako Makgatho Health Sciences University, Pretoria, South Africa; and, Department of Haematological Pathology, Dr George Mukhari Academic Laboratory, National Health Laboratory Service, PretoriaDepartment of Haematological Pathology, School of Medicine, Sefako Makgatho Health Sciences University, Pretoria, South Africa; and, Department of Haematological Pathology, Dr George Mukhari Academic Laboratory, National Health Laboratory Service, PretoriaDepartment of Haematological Pathology, School of Medicine, Sefako Makgatho Health Sciences University, Pretoria, South Africa; and, Department of Haematological Pathology, Dr George Mukhari Academic Laboratory, National Health Laboratory Service, PretoriaBackground: Haemophilia A and B are X-linked recessive bleeding disorders resulting from a deficiency of factors VIII and IX, respectively. Early diagnosis and a comprehensive approach to management is mandatory. This study aimed to describe the profile of patients with haemophilia (PWH) managed at Dr George Mukhari Academic Hospital (DGMAH) with the view to identify potential areas to improve haemophilia care. Methods: A cross-sectional, descriptive study that retrospectively reviewed clinical and laboratory records of PWH managed at DGMAH haemophilia treatment centre from 01 January 2003 to 31 December 2017. Results: Forty-four males were identified, with the majority being adults (~61%). Haemophilia A patients (~82%) outnumbered those with haemophilia B (~18%). Spontaneous mucocutaneous bleeding was the most frequent presenting feature followed by haemarthrosis. Disease-related complications included joint complications and life-threatening bleeds. There was a delay in diagnosis in 11% PWH. Management included episodic plasma-derived factor replacement and bypassing agents for patients with inhibitors. Only 13% of PWH were on home therapy. Prevalence of inhibitor development was 18%. There was a paucity of recorded data regarding prophylaxis, genetic counselling, psychological and physiotherapy support. Conclusion: The majority of PWH were adults, and haemophilia A was more prevalent than haemophilia B. A delay in haemophilia diagnosis could be addressed by increasing the awareness of haemophilia in health facilities. Expanding home therapy and introducing prophylaxis will likely improve the quality of life in PWH. Study outputs have included compilation of diagnostic and management algorithms to optimise haemophilia care at DGMAH.https://safpj.co.za/index.php/safpj/article/view/5551haemophiliahome therapyprophylaxiscomprehensive managementinhibitorscoagulation factor deficiency
spellingShingle Lethukuthula Mafisa
Abegail N. Dlova
Vanessa Moodley
The profile of patients with haemophilia managed at a haemophilia treatment centre in Pretoria, Gauteng
South African Family Practice
haemophilia
home therapy
prophylaxis
comprehensive management
inhibitors
coagulation factor deficiency
title The profile of patients with haemophilia managed at a haemophilia treatment centre in Pretoria, Gauteng
title_full The profile of patients with haemophilia managed at a haemophilia treatment centre in Pretoria, Gauteng
title_fullStr The profile of patients with haemophilia managed at a haemophilia treatment centre in Pretoria, Gauteng
title_full_unstemmed The profile of patients with haemophilia managed at a haemophilia treatment centre in Pretoria, Gauteng
title_short The profile of patients with haemophilia managed at a haemophilia treatment centre in Pretoria, Gauteng
title_sort profile of patients with haemophilia managed at a haemophilia treatment centre in pretoria gauteng
topic haemophilia
home therapy
prophylaxis
comprehensive management
inhibitors
coagulation factor deficiency
url https://safpj.co.za/index.php/safpj/article/view/5551
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