Hemophilia

Medical and Health Science Project and Seminar Material

Hemophilia

Abstract

This study reviewed the illness hemophilia. A significant number of people living with hemophilia are reported to be either under-diagnosed or mismanaged in most developing countries. This may results in increase in disease related morbidity and mortality in childhood. The aim of this study is to evaluate the frequency of hemophilia and bleeding parameters of those with bleeding disorders in South East Nigeria. Fifty consecutive consenting persons with bleeding disorder that met inclusion criteria were recruited from the four tertiary hospitals in South East Nigeria. Blood samples were collected for full blood count, coagulation screening test and Factor VIII assays. Data was analyzed using the graph pad prism version 6. Results obtained from this study showed that2% of subjects with bleeding disorder has hemophilia and they are within mild range, the most common bleeding symptoms is gastrointestinal bleeding (23.4%) and the most common bleeding score of four (32.4%) was obtained from subjects with bleeding disorders in South East Nigeria. Furthermore, this study also showed that thrombocytopaenia (68%) was found in subjects with bleeding disorders. These results showed that hemophilia may not be under-diagnosed as earlier suggested by other authors. However, it may be necessary to screen for Factor VIII in cases of bleeding when indicated. Further studies may be needed to determine the likely causes of thrombocytopaenia in bleeding disorders in our environment.

Chapter One

Introduction

Bleeding disorder affects 1 in 1000 men and women globally (Skinner 2012) with hemophilia being the most well-known inherited bleeding disorder, although it is relatively rare and affect mostly males. Platelet disorder is the most common cause of bleeding disorder and usually acquired rather than inherited, but the most common inherited bleeding disorder in America is vonWillebrand disease and it affects both male and female (America Society of Haematology 2013).

World Federation of Hemophilia (WFH) estimates that the prevalence of hemophilia worldwide is 105 and 28 per million males of hemophilia A and B respectively, with a global population of 6 billion this would give a prevalence of about 315,000 and 84,000 persons living with hemophilia (PLWH) A and B respectively (O’Mahonyet al 2005). Data collected among 84 countries showed that about 115,000 persons has hemophilia which means that about 70% of PLWH remain undiagnosed and untreated mostly in developing countries including Nigeria (O’Mahonyet al 2005). Study in Indian reported 14, 718 persons with bleeding disorder and 78.7% of them have hemophilia A (WFH 2013). Prevalence of hemophilia in Senegal in West Africa showed 2.3 per 100,000 male births (Diop et al 2014), while the incidence of hemophilia A and vonWillebrandvWD in South West Nigeria is 1.64% (Fakunleet al 2007).
International society of thrombosis and haemostasis, observed that majority of persons with hemophilia in the world has not been diagnosed because of lack of diagnostic capabilities, no access to proper care, no economic means of managing those persons and little or no available factor VIII replacement therapy (Stonebrakeret al 2012). In Nigeria there are paucity of data on the prevalence and characterization of hemophilia but based on WFH it is estimated that there are 9,000 to 12,000 PLWH in Nigeria (WFH 2013), the question is how of those PLWH has being diagnosed in Nigeria?

Justification For The Study

PLWH are reported to be either under-diagnosed or mismanaged in most developing countries like Nigeria, resulting in increase in disease related morbidity and mortality in childhood, for those who survive into adulthood it is often complicated with chronic pain and crippling disabilities requiring lifelong care (O’Mahonyet al 2005 and Stonebrakeret al 2012). These may affect their quality of life, socio-economic status and their ability to contribute positively to the society. Therefore, this study aims at evaluating the frequency of hemophilia and bleeding parameters of person’s with bleeding disorders in South East Nigeria, with the view to generate the much needed data to facilitate and improve the health care given to those people with bleeding disorders. Results generated from this study will provide feedback into characterization of causes of bleeding disorders which may quality of life, life expectancy and reduce complications arising from hemophilia and other causes of bleeding disorder.

Aim And Objectives

Aim

The study aims at evaluating the frequency of hemophilia and bleeding parameters of person’s with bleeding disorders in South East Nigeria.

Specific Objectives

To determine the frequency of hemophilia among person’s with bleeding disorder in South East Nigeria.
To determine the bleeding symptoms of person’s with bleeding disorder in South East Nigeria.
To determine the bleeding scores of person’s with bleeding disorder in South East Nigeria.

Chapter Five

Discussion

Results obtained from this study showed that out of the 50 subjects with bleeding disorders, 2% of these subjects were deficient for Factor VIII (hemophilia A) and their clinical severity is within mild range. This supports the work done in South West Nigeria on male infants undergoing circumcision were about 1.64% was diagnosed of having hemophilia A (Fakunleet al 2007), also study done on prevalence of hemophilia around the world (Stonebrakeret al 2012) and in West Africa (Diopet al 2014) showed that about 2.69 and 2.3 per 100,000 male birth respectively has hemophilia. Study done in Indian stated that 78.7% of those with bleeding disorder has hemophilia (WFH 2013), this is not in agreement with this study were 2% of those with bleeding disorder has hemophilia, this could be traced to the fact that study done in India excluded persons with bleeding disorder due to acquired causes which may be the possible reason for a higher percentage of persons with hemophilia while this study included both those subjects with bleeding disorders arising from acquired or inherited causes. Significant number of studies (Kir-young et al 1988, Fakunleet al 2007, Lucia et al 2011 and Tagnyet al 2014) reported that hemophilia A (FVIII deficiency) is more common than hemophilia B (FIX deficiency), this report is in agreement to the result obtained from this study were all subjects diagnosed with hemophilia has factor 8 deficiency (hemophilia A). Study done in Korea (Kir-Young et al 1988) on clinical severity of hemophilia cases stated that the severe form is the most common presenting form of hemophilia due to the severity of their bleeding episodes resulting to early medical care, however this report is not in agreement with this study were the subjects with hemophilia are of mild form, this could be because this study was structured to diagnosed hemophilia in those even with milder bleeding symptoms.

Result from this study also showed that thrombocytopaenia is found in 68% of subjects with bleeding disorder, this supports American Society of Hemophilia on bleeding disorder which states that platelet disorder is the most common cause of bleeding disorder and are usually acquired rather than inherited (America Society of Hemophilia 2013), this implies that platelet abnormality is a major cause of bleeding disorder also in South East Nigeria and platelet plays a significant role in haemostasis (blood clotting). Abnormal coagulation screening test was observed in 36% of study subject with bleeding disorders this supports the fact that although clotting factor abnormality is also a major cause of bleeding disorders but not as common as the platelet abnormality (America Society of Hemophilia 2013). Prolonged APTT was found in about 14% of subjects with bleeding disorder, this agrees with the study done in Korea on hemophilia were APTT was prolonged in cases of hemophilia patients (Kir-young et al 1988), this further supports the fact that prolonged APTT with normal PT may be a possible indication of either FVIII (hemophilia A) or FIX (hemophilia B) or FXII, HMWK (high molecular weight kininogen) or Prekallikrein or presence of an inhibitor (Steve et al 2010).

The most common bleeding symptoms observed in this study is gastrointestinal bleeding (23.8%) while bleeding from central nervous system (1.4%) is the least observed symptoms. This result supports the work done in Korea on bleeding symptoms which showed that gastrointestinal bleeding is observed as the most common bleeding complication (Kir-young et al 1988). Online based questionnaire study of 500 healthy adults showed that 47% of subject reported heavy menstrual bleeding and 25% of subject reported epistaxis these findings are not in agreement with the result of this study, this could be because healthy adults were used when compared to this study that used subjects with bleeding disorder (Maueret al 2011). Also studies done in Northern and South Western Nigeria suggested that post-circumcision bleeding is the most common presenting symptoms of hemophilia (Mbaet al 1995 and Fakunleet al 2007) this does not agree with this study were gastrointestinal bleeding is the most common presenting symptoms obtained from this study, possibly because this study involves all age groups with bleeding disorders when compared to study done only on infants undergoing circumcision.

More than 80% had total bleeding score (TBS) above three (>3) meaning about 80% of this study population has abnormal bleeding history as stated by Vicenza group (Bowman et al 2008). Also more than 32% of this study population has a total bleeding score of 4, suggesting that majority of the subjects with bleeding disorder in South East Nigeria may have mild abnormal bleeding history (Bowman et al 2008).

The mean age of this study subjects with bleeding disorder is 34.9 (20.4) and 56% of them are males while 44% are females, this represent the percentage of age group and sex distribution of persons with bleeding disorders in South East Nigeria. It supports the work done by Maueret al (2011) and Bruno et al (2001) on bleeding disorders were there mean age is 40 years, males (50%) and females (40%). Study done in sub-Saharan Africa is not in agreement with this study were their mean age is about 15 years (Tagnyet al 2014), this could be because their study was based on PLWH and those cases presents at a younger age while this study is on those with bleeding disorder which involves a wide range of age distribution.

Full blood count results of subjects showed that, anaemia was found in 54% of subjects with bleeding disorder, this is because most of the persons with bleeding disorders present with blood loss that may be internal or external and may also be prolonged or heavy, leading to anaemia. This is in accordance with the study by Bruno et al (2011) were he detected anaemia in more than 50% of patients with bleeding symptoms.

Conclusion And Recommendation

This study was able to provide an insight on the frequency of hemophilia and bleeding parameters of those persons with bleeding disorders in South East Nigeria. Results from this study showed that 2% of subjects with bleeding disorders has hemophilia with mild range of clinical severity, the most common bleeding symptoms obtained from this study is gastrointestinal bleeding (23.4%) and the most common bleeding score of 4 was obtained in 32.4% of the study population with bleeding disorders in South East Nigeria. This implies that hemophilia may not have being under-diagnosed as earlier suggested by other authors, however it may be necessary to screen for Factor VIII in cases of bleeding disorders when indicated. Furthermore the study also showed that 68% of subjects with bleeding disorder has thrombocytopaenia, so further studies may be needed to determine the causes of thrombocytopaenia in bleeding disorders; this may provide more insight on the disorder and possible ways of prevention, it may also help in making prompt diagnosis and it may hopefully improve their quality of care and life expectancy of those with bleeding disorders in South East Nigeria.