|Year : 2016 | Volume
| Issue : 3 | Page : 320-324
A clinical profile of hemophilia patients and assessment of their quality of life in Western Uttar Pradesh, India: An observational study
Saurabh Mishra1, Sanjeev Kumar2, Ajay Panwar3, Deepak Bhagchandani2, Girish Kumar Aneja4, Neetu Verma5, Pradeep Kumar6
1 Department of Nephrology, RML Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
2 Department of Medicine, KG Medical University, Lucknow, Uttar Pradesh, India
3 Department of Neurology, KG Medical University, Lucknow, Uttar Pradesh, India
4 Department of Medicine, LLR Medical College, Meerut, Uttar Pradesh, India
5 Department of Obstetrics and Gynaecology, MLB, Jhansi, Uttar Pradesh, India
6 Department of Physiology, KG Medical University, Lucknow, Uttar Pradesh, India
|Date of Web Publication||17-May-2016|
Department of Medicine, KG Medical University, Lucknow, Uttar Pradesh
Source of Support: None, Conflict of Interest: None
Objective: To describe the clinical profile of hemophiliac patients and their quality of life (QoL) in Western Uttar Pradesh. Materials and Methods: This was an observational cross-sectional study. Patients of all age groups with hemophilia admitted in the medicine and pediatrics ward for factor/fresh frozen plasma transfusion or having history of such type of transfusion were consecutively enrolled. A detailed clinical history was elicited from the accompanying parent/guardian. The HAEMO-QoL questionnaire was used for the assessment of QoL of the patients. Results: Out of the total 71 hemophilia patients, 66.2% (51/77) were >18 years of age. Type A hemophilia was observed in 88.3% (68/71) patients. Majority of the patients had severe hemophilia (80.5%). The family history and joint involvement were present in 58.4% and 77.9% of the patients, respectively. Knee joint was observed to be as the target joint among 57.1% of the patients. 76.6% of the patients had joint swelling, resulting in compromised joint movement. Bleeding occurred in soft tissues and joints in 62.3% and 15.6% of the patients, respectively. The patients had poor QoL scores. Overall, hepatitis B and C infection were observed in 6.5% and 9.1% of the patients, respectively. Orthophysiotherapy was needed in 22/26 (84.6%) patients. Conclusion: The severe type of haemophilia Type A was more common than mild and moderate types. The study suggests that important determinants for QoL in haemophilia patients are availability of factor concentrate from the clinical perspective and social and psychological support to ensure a holistic care approach.
Keywords: Clinical profile, hemophilia, quality of life
|How to cite this article:|
Mishra S, Kumar S, Panwar A, Bhagchandani D, Aneja GK, Verma N, Kumar P. A clinical profile of hemophilia patients and assessment of their quality of life in Western Uttar Pradesh, India: An observational study. Med J DY Patil Univ 2016;9:320-4
|How to cite this URL:|
Mishra S, Kumar S, Panwar A, Bhagchandani D, Aneja GK, Verma N, Kumar P. A clinical profile of hemophilia patients and assessment of their quality of life in Western Uttar Pradesh, India: An observational study. Med J DY Patil Univ [serial online] 2016 [cited 2023 Feb 1];9:320-4. Available from: https://www.mjdrdypu.org/text.asp?2016/9/3/320/182501
| Introduction|| |
Hemophilia is a hereditary X-linked recessive disorder characterized by the deficiency of factor VIII or IX coagulant activity.  It is the most common congenital bleeding encountered in clinical practice affecting men, whereas females are usually carriers. 
Only hospital-based studies have estimated the burden of hemophilia because the epidemiological methods are not cost-effective for the measurement of rare diseases. Thus, registries remain the best source for obtaining the epidemiological data on these conditions.  As genetic disorders arise in the population through spontaneous mutations and through affected births in families with known risk of a genetic disorder, in absolute numbers, the birth prevalence of genetic disorders is likely to be high in India. Although the genetic basis of this disorder has been well studied in India, data on the number of patients, trends of the disorder in India, social costs of the condition and opportunities, and competencies for offering genetic counseling through a public health program have not been reported. 
Haldane  estimated hemophilia to be present in 1 among 5000 male births. Soucie et al.  estimated a similar incidence, i.e., around 20/100,000 population from a hemophilia surveillance established in the USA. In India, 260 new patients were reported between 2009 and 2010; , however, there were 13,841,667 male births.  This indicates that the incidence of hemophilia in India in the year 2010 was around 2/100,000 male births or around 277 new patients being registered each year in the country. The patients with hemophilia experience frequent absenteeism from school and work, as physical activity is limited due to the extreme pain and discomfort associated with the hemorrhagic episode. A cross-sectional study reported that the proportion of school dropouts due to bleeding was 36.5%.  Quality of life (QoL) is a recent focus of research in hemophilia. Health-related QoL (HRQoL) is considered to be one of the most relevant health outcome measures in medicine. 
The clinical profile of hemophilia patients is rarely reported in India, especially in the state of Uttar Pradesh. The objective of this study was to describe the clinical profile of hemophiliac patients and their QoL in Western Uttar Pradesh.
| Materials and Methods|| |
Study design and setting
This was an observational cross-sectional study conducted in the Departments of Medicine and Pediatrics of a Tertiary Care Hospital in Western Uttar Pradesh in India during 2012-2013. The study was approved by the Ethical Committee of the Institute. The consent was taken from each participant's parent/guardian before enrolling in the study. The objective of the study was explained to the parent/guardian and confidentiality of identity was assured.
Patients of all age groups with hemophilia admitted in the medicine and pediatrics ward for factor transfusion or having history of such type of transfusion were consecutively enrolled during the study period. The patients having factor deficiency other than factor VIII/IX were excluded from the study.
A detailed clinical history was elicited from the accompanying parent/guardian with special emphasis on the following parameters: Demographic features, duration of symptoms, symptom profile, family history, and number of previous transfusions. Each patient was made to undergo detailed physical examination with special reference to the joints examination. The case was defined as physician-diagnosed patient of hemophilia A or B, who was further verified from conditions for coverage usage records, records of laboratory diagnosis, and registration records. After assessment of the investigations, factor VIII or factor IX was transfused. Dose of factor VIII/IX was calculated according to the presenting symptoms as per standard method. Factor assay was performed to assess the severity of factor deficiency in diagnosed cases of hemophilia. Mild, moderate, and severe hemophilia were defined as those having factor level of >5-30%, 1-5%, and <1% of normal activity, respectively.
Quality of life assessment
The HAEMO-QoL is the first hemophilia-specific HRQoL questionnaire and it is available in three age group versions as self-reports for children: Version I for children aged 4-7-year-old (21 items) as an interview, version II for children aged 8-12-year-old (64 items), and version III for adolescents aged 13-16 years old (77 items), as well as three proxy versions for parent's report, respectively.  The initial development used parent's assessment of children's QoL as well as expert consensus of hemophilia treaters on relevant dimensions and items. On these grounds, an instrument for children had been constructed consisting of 8-12 dimensions according to different age groups, with fewer items for younger children in the domains "physical health," "feeling," "view," "family," "friends," "others," "sport and school," and "treatment." Age groups II and III have, in addition, the domains "perceived support" and "dealing with hemophilia" and for adolescents the domains "future" and "relationship" are added. The higher score indicates better QoL.
The data were analyzed using SPSS 16.0 version (SPSS Inc. 233 South Wacker Drive, 11 th Floor, Chicago, IL 60606-6412). The results are presented in mean ± standard deviation and percentages. The reliability analysis was done for QoL indicators.
| Results|| |
Out of the total 77 hemophilia patients, 66.2% (51/77) were >18 years of age. Type A and B hemophilia patients were 88.3% (68/77) and 11.7% (9/77), respectively. The percentage of hemophilia Type A patients was higher than Type B in both the age groups [Figure 1].
|Figure 1: Distribution of haemophilia patients according to age and type|
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[Table 1] describes the clinical features of hemophilia patients. Severe hemophilia was observed among majority (80.5%) of the patients. The family history and joint involvement were present in 58.4% and 77.9% of the patients, respectively. Knee joint was observed to be as the target joint among 57.1% of the patients. 76.6% of the patients had joint swelling, resulting in compromised joint movement. Bleeding occurred in soft tissues and joints in 62.3% and 15.6% of the patients, respectively. The percentage of severe hemophilia was higher in Type A than Type B in both the age groups.
The three age group versions of the HAEMO-QoL had acceptable internal consistency and retest reliability values for age groups II and III as well as possessed sufficient discriminant. Mean total HAEMO-QoL scores were 39.6 ± 15.0 for the children and 47.4 ± 14.1 for the adult patients, respectively. Total Cronbach's alpha coefficient of age groups was above 0.70 [Table 2].
|Table 2: Mean ± standard deviation and internal consistency of HAEMO-quality of life scores for different age groups|
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Overall, hepatitis B and C infection were in 6.5% and 9.1% of the patients, respectively [Table 3]. Orthophysiotherapy was needed in 22/26 (84.6%).
| Discussion|| |
In this study, hemophilia A (88.3%) was the most common type of hemophilia as compared to hemophilia B. The ratio of hemophilia A/hemophilia B has been reported between 78/22 and 87/13 throughout the world.  Agarwal et al.  had found the percentage of hemophilia A being 78.6% (236/300 cases), which was similar to the present study. In a study, out of the 50 cases diagnosed with hemophilia based on the laboratory tests, majority of 82% were hemophilia A and only 18% were hemophilia B.  The pattern of hemophilia patients of this study was similar to the study by Dube et al. 
Majority of hemophilia patients in our study had severe deficiency which is similar to the findings reported by Parthiban et al.  in which both hemophilia A and B showed 66% of cases with severe factor deficiency, 26% with moderate, and 8% with mild deficiency. Our findings of severity of hemophilia are also in correlation with Agarwal et al.  Hazewinke et al.  in South Africa and Kim et al.  in their study on Korean population showed similar prevalence of severe hemophilia (55.7%). Lusher et al.  reported 84% cases of severe hemophilia and 8% cases of moderate hemophilia.
The family history was present among more than half of the patients in this study. Similar percentage was reported by Parthiban et al.  in which 52.2% of the patients had family history of hemophilia. Hemophiliac arthropathy was not found to be common in our pediatric patients. Joint involvement was found in 15/26 (57.7%) in the patients of age <18 years. Knee as the target joint was found in 9/26 (34.6%) in the patients of age <18 years. This may reflect that this complication is uncommon in young children. However, none of our pediatric patients developed permanent hemophilic joint disability. In Egyptian study, 22.2% patients had developed hemoarthrosis and only 9.7% patients were on orthophysiotherapy. One of them had permanent joint disability. 
In this study, hepatitis B and C infection were in 6.5% and 9.1% of the patients, respectively, which was in agreement with an Egyptian study.  In the present study, the mean total HAEMO-QoL scores were 39.6 ± 15.0 for the children and 47.4 ± 14.1 for the adult patients, respectively. This implies that the patients of hemophilia had low QoL. In addition, severe hemophilic patients had lower QoL than mild and moderate patients. Almost similar findings were reported by Santagostino et al. 
| Conclusion|| |
To improve the hemophilic care and early diagnosis, priorities should be established such as training of care providers, setting up care centers, initiating a registry, educating affected people and their families about the condition, providing low-cost factor concentrates, improving social awareness and developing a comprehensive care team. The high cost of providing treatment for patients is likely to overwhelm the public health services, suggesting the need for launching a national program for hemophilia with components of prevention, care, and support.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Table 1], [Table 2], [Table 3]
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