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Haemophilia patients aged 0-18 years in the Western Cape
M H Hazewinkel1, J J Hoogerwerf, P B Hesseling
1Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Netherlands.
Insights
Delayed diagnosis of hemophilia in children, even with family history, is common. This condition significantly impacts the health of young patients and their families in the Western Cape.
Area of Science:
- Pediatric Hematology
- Genetic Bleeding Disorders
- Public Health
Background:
- Hemophilia is a genetic bleeding disorder affecting children.
- Understanding the prevalence and impact of hemophilia in the Western Cape is crucial for healthcare planning.
Purpose of the Study:
- To determine the number of children (0-18 years) with hemophilia in the Western Cape.
- To investigate diagnostic events, clotting factor levels, treatment, joint function, and family impact.
Main Methods:
- Prospective study of registered and new hemophilia patients in the Western Cape.
- Data collected via patient/guardian interviews, medical records, and physical examinations.
Main Results:
- 49 of 78 identified children with hemophilia A or B were studied.
- 43% had severe hemophilia; diagnosis delayed up to 9 months, especially with family history.
- Joints were functionally restricted in 43%, and 59% of families reported a major impact.
Conclusions:
- Delayed diagnosis of hemophilia in children, particularly those with a family history, is a significant issue.
- Hemophilia imposes substantial morbidity on affected children and considerable burden on their families.
Objectives:
To record the number of haemophilicas aged 0-18 years in the Western Cape (WC), what event led to the diagnosis, the level of clotting factor, treatment, functional status of their joints and impact of the disease on the family.
Design:
A prospective study of patients registered with the South African National Haemophilia Registry and new patients, utilising the patients' paediatricians, hospital records, patient and guardian interviews, physical examination and provincial nurse haemophilia co-ordinators.
Setting:
Haemophilia care centres at the three WC academic hospitals, regional hospitals and homes of patients. Two elective medical students, MHH and JJH, collected the information.
Subjects:
All boys with confirmed haemophilia A or B in the WC.
Outcome Measures:
Events that led to diagnosis, degree of haemophilia, use of clotting factor, functional status, and effect on family.
Results:
Of 78 patients (59 haemophilia A, 19 haemophilia B) identified, 49 could be studied. Forty-three per cent had severe, 29% moderate and 22% mild disease (6% unknown). Family history was present in 49%, but led to diagnosis in only 12%. The most common first symptoms were subcutaneous and mucosal bleeding. Delay in diagnosis varied from 0 to 9 months. Twenty-nine per cent of guardians were suspected of child abuse. RSA produced clotting factor was used 'on demand' in 73% of patients, for periodic prophylaxis in 20% and as continuous prophylaxis in 7%. Joints were functionally restricted in 43% of patients. The majority of guardians (59%) said the disease had a major impact on the family.
Conclusions:
The diagnosis of haemophilia in children with a positive family history was often delayed. Haemophilia causes significant morbidity in our patients and their families.
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