1.0 Introduction
Hemophilia refers to a sex linked recessive, hereditary lifelong bleeding disorder caused by a deficiency or lack of a vital blood-clotting factor. The disorder is therefore associated with excessive and often spontaneous bleeding of mainly internal organs. While hemophilia A is associated with the partial or lack of factor VIII, hemophilia B is a deficiency of factor IX. Without considering the type and severity, there is 1 reported case in every 5000 male births and 1 severe case in every 10,000 male births. Suffice to say that hemophilia A is referred to as the classical hemophilia because it is 4-5 times as common as hemophilia B that is referred to as the Christmas disease. given that the genes that encode the two factors associated with hemophilia are located on different sites of the X-chromosome and males only have a single set of the chromosome, hemophilia is more prevalent in males than in females and hence the prevalence is given in terms of reported cases per male births. This paper will focus on the epidemiology of hemophilia A, the state of research on the disorder and the communication strategies employed to convey information on the disorder.
2.0 Background Epidemiology of Hemophilia A
As earlier mentioned, hemophilia A is the classical hemophilia and is as a result of deficiency of clotting factor VIII. While a majority of the incidences of the disease are inherited, there are few cases of acquired hemophilia A, mainly in elderly patients, resulting from autoantibodies against Factor VIII or hematological malignancy. The acquired form is as a result of spontaneous mutations resulting in the autoimmunity or malignancy and is extremely rare with a prevalence of 1.34 incidences in a million per year.
The etiology of hemophilia A is heterogeneous mutations of factor VIII gene on the X-chromosome. As a result, phenotypic characteristics of the disease as well as the severity vary widely. A majority of the cases of the disease are males born of carrier mothers with very rare cases of females inheriting the disorder from an affected father and a carrier mother (often in marriages of close relatives. There are very few cases of serious female hemophiliacs with some female carriers experiencing mild bleeding symptoms. As such, males are the desperate population associated with hemophilia A. Reports from the World Federation of Hemophilia (WFH) indicate that the epidemiology and prevalence of hemophilia A vary considerably among countries and varies with national economies.
The WFH annual global survey zones the countries according to World Bank’s 2006 economic classifications based on the gross national income (GNI) per capital. High income countries are those with GNI of ≥ $11,116, upper middle income $3596-$11,115, lower middle income $906-3595, lower income≤ $905 According to this survey the prevalence of hemophilia A ranges from 1.0 and 38.6 per 100,000 males among the high income countries; from 2.9-17.5 per 100,000 males for upper middle income countries; from 0.1-16.2 per 100.000 males in lower middle income countries and from 0.04-6.0 per 100,000 males in low income countries.
The survey estimated that the average prevalence of hemophilia A in the entire world was 6.6 ± 4.8 per 100,000 males. Suffice to say that the reported prevalence of hemophilia in low income countries is often less than that of the higher income countries mainly because the reported cases are fewer than the actual cases. This is a result of under-reporting practices and unavailability of treatment leading to death. The under-reporting in lower income countries is mainly as a result of lack of diagnostic capacity, lack of access to care, lack of economic means to access care and diagnosis and inaccessibility of factor VIII replacement therapy. This discrepancy affects treatment and care planning including budgetary allocation and planning for manufacturing of treatment. Another important finding of the study is that the prevalence of hemophilia A has increased over time in 80% of the 106 surveyed countries. Other sources, reported prevalence of the disorder to be 1 per 5000 to 1 per 10,000 male births. The latter represents the prevalence of severe cases, with the disease severity being determined by the level of activity of the remaining factor as shown in table 1 below. Incidences of the severe state of the disease are more common than the cases of moderate and mild disease.
In the U.S, the disease is often diagnosed at a very tender age and management is initiated early, as early as at birth and even before birth through prenatal genetic testing. In two thirds of the diagnosed cases of hemophilia, there is a family history of the disease while in a third of the cases there is no family history of the disease. Early diagnosis and regular preventive treatment reduces the chances of joint damage (which is associated with severe hemophilia A) by the age of 6 years. In the U.S the federal government funds a network of comprehensive hemophilia treatment centers which treat approximately 70% of the hemophilia patients and has reduced the rates of hospitalization and mortality associated with bleeding complication by 40%. 70% of hemophilic babies suffer a bleeding episode before the age of 2 and 1 of every 5 of these cases involves the head. However, those who are trained on how to treat the bleeds at home have a lower probability of being hospitalized for bleeding complications. Unfortunately, about 2.75 cases per 1,000 persons develop antibodies against the available treatment. Hemophilia A is also linked to other risks, complications other than bleeding.
While hemophilia does not increase the risk of obesity and overweight, there are indications that an unhealthy body mass index (overweight) increases the severity of hemophilia and the associated joint complications. Hemophiliacs are 15- 40 times more likely to have infectious arthritis which in turn exacerbates the joint problems among hemophiliacs. Due to the infusion treatment hemophiliacs are also at a higher risk of getting HIV, heart diseases as their life expectancy increases, kidney bleeding and renal disease.
3.0 Status of research on hemophilia A
The current research on hemophilia A has been focused on finding better treatment and management strategies for the disease. The main first of line therapies are activated prothrombin complex concentrate and recombinant activated factor VIII. Unfortunately a vast majority (about 75%) of hemophiliacs in the world cannot access the treatment due to the cost and the treatment is a lifelong regimen. In addition, up to 30% of the patients eventually develop antibodies against the treatment. The focus of the current research has been to develop a curative treatment administered before birth. One such research explored a combination of stem cell/gene therapy to boost the animal’s (sheep) ability to produce FVIII (Porada, et al., 2011; Porada & Almeida-Porada, 2012). The genetically modified mesenchymal stem cells migrated to the joints and ongoing and spontaneous bleeding ceased and reversed the joint damages. While the study had promising outcomes, over time the sheep mounted an immune response against the therapy. Another promising treatment being researched is the utero cell transplantation (IUT). This approach has the advantage of guarantee the birth of a healthy infant but the evidence is insufficient to back the findings and the researchers have sought more funding from the government to advance the research (Porada, 2012).
The greatest weakness with these studies is the study design and particularly the sample size. In most cases, the data is only collected from a single sheep (the animal model) yet individuals have very unique variables, including immune response, that may influence treatment. In the IUT technology out of 46 cases that were, treated only 10 have been cured. As such, even if the outcomes are promising the sample size is not sufficient to make a reasonable and applicable conclusion. In a human study that had equally promising outcome of gene therapy in the treatment of hemophilia A, only 6 patients were treated and 4 of them responded positively to the treatment. Again, the sample size, given that there are about 400,000 cases of hemophilia A, is insufficient.
4.0 Communication strategies employed to convey information on hemophilia A
Proper communication strategies are necessary in conveying information about hemophilia A. There is need to avail information on the diagnosis, treatment and care and symptoms of hemophilia. It is also necessary to avail information on hemophilia care to family members of hemophiliacs. The main communication strategies employed to convey information on hemophilia A include the use of print media, television and radio programs, verbal communication by healthcare providers and genetic counselors and the internet. The comprehensive hemophilia A care centers and other organizations in anti-hemophilia war have also published a lot of pamphlets and newsletters on hemophilia. In order to be effective the communication strategies must be specific, well-reasoned, confident, supportive and expressive. Among the several communication strategies available, the internet remains the most effective in terms of timeliness and cost-effectiveness. In addition, the advent of social media has offered an interactive forum that helps to clear any confusion and misunderstanding because the recipients of the information can always ask questions. Blogs and websites disseminating information on hemophilia A should use simple laymen terminologies to avoid ambiguity and confusion. Another way of minimizing confusion and misunderstanding is by having the material/information published in as many languages as possible because language barrier is a major communication barrier. In addition such websites should be frequently updated to provide relevant up-to-date information, accessible and user-friendly. Lastly there must be collaboration even in the dissemination of information and education so that the information is somewhat synchronized. On the internet, the website can have options of redirecting people to other relevant websites.
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