IVA PARA MEDICAL CAMPUS

ONE YEAR CERTIFICATE OF NURSING COURSE

PROJECT TITLE: HEMOPHILIA DISEASE CONDITION

BY: INDRASIRI WIDANAGE CHATHURANGI JAYAMALI

KU/NU/22/07/063

This project is submitted in partial fulfilment of requirement for the IVA Para
Medical Campus award of Certificate of nursing.
 Self-affidavit

I hereby declare that this project report is not an excerpt and is an original model prepared
based on my knowledge and experience. Furthermore, this project by me. I hereby declare
that I have not previously or concurrently submitted for any other course conducted by
IVA Para Medical Campus.
Signature:

Name:

ID card Number:

Date:

Supervisor

This is to certify that this is a true report for the project carried out by the student under
my supervision and has been submitted to Aiwa Para Medical Campus with my approval.

Signature:

Date:

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Table of Contents
Self-affidavit .................................................................................................................................... 2
Supervisor ....................................................................................................................................... 2
list of FIGURES .............................................................................................................................. 4
List of table...................................................................................................................................... 5
CHAPTER ONE ............................................................................................................................. 6
Introduction ................................................................................................................................ 6
What is hemophilia ..................................................................................................................... 7
Levels of severity ........................................................................................................................ 8
CHAPTER TWO ............................................................................................................................ 9
Genetic Transmission of Hemophilia ........................................................................................ 9
Diagnosis of hemophilia ........................................................................................................... 11
Treatment for hemophilia ........................................................................................................ 13
CHAPTER THREE...................................................................................................................... 14
Methodology and Tools used to analyze the data and the processes .................................... 14
Time schedule............................................................................................................................ 15
CHAPTER FOUR ........................................................................................................................ 16
Data analysis of hemophilia ((WFH), 2023) ........................................................................... 16
CHAPTER FIVE .......................................................................................................................... 17
1. Limitations ........................................................................................................................ 17
2. Conclusion ......................................................................................................................... 17
3. Suggestions and recommendations for further improvements in the system.............. 18
References ..................................................................................................................................... 20

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 LIST OF FIGURES

FIGURE 1- MOTHER IS A CARRIER AND THE FATHER HAS A NORMAL GENE ........................... 10
FIGURE 2 - MOTHER A CARRIER; FATHER SUFFERING FROM HEMOPHILIA. ............................ 10
FIGURE 3 - NUMBER OF HEMOPHILIA PATIENTS ................................................................... 16

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 LIST OF TABLE

TABLE 1- TIME SCHEDULE OF THE PROJECT ......................................................................... 15

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CHAPTER ONE

Introduction
The project area focuses on the topic of hemophilia, a genetic disorder that affects the
body's ability to form blood clots. Hemophilia is a rare condition that primarily affects
males and is inherited through a faulty gene on the X chromosome.

The project aims to explore how hemophilia operates and how the problem exists in
different contexts. This includes examining the genetic and biological mechanisms that
underlie the condition, as well as the social, economic, and cultural factors that influence
the diagnosis, treatment, and management of hemophilia.

One of the key challenges associated with hemophilia is the lack of awareness and
resources for the condition, particularly in low- and middle-income countries. This can
result in many cases going undiagnosed or untreated, which can lead to complications such
as joint damage, disability, and even death.

The project will examine the current state of hemophilia care and management in different
regions, including the availability of diagnostic testing, access to treatment, and the role of
healthcare providers and patient advocacy groups in promoting awareness and improving
outcomes for people with hemophilia.

By gaining a better understanding of how hemophilia operates and how the problem exists
in different contexts, the project aims to identify opportunities for improving diagnosis,
treatment, and management of the condition and ultimately improve the quality of life for
people with hemophilia and their families. (society, 2010)

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What is hemophilia
Hemophilia is a genetic disorder that affects the body's ability to form blood clots. People
with hemophilia have a deficiency or absence of certain proteins, called clotting factors,
that are needed for the blood to clot normally.

As a result, people with hemophilia may experience prolonged bleeding after an injury,
surgery, or even a minor cut or bruise. They may also experience spontaneous bleeding,
particularly in the joints, which can cause pain, swelling, and damage to the joints over
time.

Hemophilia is an inherited condition, which means it is passed down from parent to child
through a faulty gene on the X chromosome. Because the gene is located on the X
chromosome, hemophilia primarily affects males, while females typically carry the gene
and may pass it on to their children.

There are two main types of hemophilia: hemophilia A, which is caused by a deficiency of
clotting factor VIII, and hemophilia B, which is caused by a deficiency of clotting factor
IX. Treatment for hemophilia typically involves replacement of the missing clotting factor
through regular infusions of clotting factor concentrates. (Wikipedia, 2023)

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Levels of severity

Mild hemophilia Moderate Severe hemophilia

5 – 40% of normal hemophilia
clotting factor 1 – 5% of normal
clotting factor
• Usually only have • Might have
bleeding problems bleeding problems
after having teeth after having teeth
taken out, surgery taken out, surgery
or a bad injury or or a bad injury or
accident. accident.
• Might never have a • May have bleeding
bleeding problem. problems after
minor injuries, such
as sporting injuries
Less than 1% of normal
clotting factor
• Often have bleeds
into joints, muscles
and soft tissues.
• Can have bleeds for
no obvious reason,
as well as after
surgery, dental
work or injuries
including minor
bumps or knocks.

• Rarely have a bleed

for no obvious
reason.

There are three levels of severity in haemophilia: mild, moderate and severe. The level of severity
depends on the amount of clotting factor in the person’s blood. A person with haemophilia will have
the same level of severity over their lifetime, e.g., a person with severe haemophilia will always
have severe haemophilia. Within a family, males with haemophilia will also have the same level of
severity, eg if a grandfather has severe haemophilia and his grandson has inherited haemophilia, his
grandson will also have severe haemophilia. The normal range of factor VIII and factor IX in a
person’s blood is between 50% and 150%.

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CHAPTER TWO

Genetic Transmission of Hemophilia

Hemophilia is a genetic disorder that is inherited in an X-linked recessive pattern. This

means that the gene mutation that causes haemophilia is located on the X chromosome, one
of the two sex chromosomes. Females have two X chromosomes, while males have one X
chromosome and one Y chromosome.

Because haemophilia is a recessive disorder, an individual must inherit two copies of the
mutated gene (one from each parent) to develop the condition. However, since females
have two X chromosomes, they can be either carriers or have the disorder, depending on
whether they inherit one or two copies of the mutated gene.

Males, on the other hand, only have one X chromosome. If they inherit the mutated gene
from their mother, they will have haemophilia, since they do not have a second, healthy X
chromosome to compensate. If a male does not inherit the mutated gene from his mother,
he will not have haemophilia, but he will be a carrier for the condition.

It's important to note that females can also be carriers for haemophilia, and may pass the
mutated gene to their children, even if they do not have the condition themselves. The
chance of passing on the mutated gene and having a child with haemophilia or as a carrier
is 50% for each pregnancy. (hog.org, 2023)

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• Mother is a carrier and the father has a normal gene. The potential gene pairings
may be shown by following the arrows.

Figure 1- Mother is a carrier and the father has a normal gene

• Mother a carrier; father suffering from hemophilia. The potential gene pairings may
be shown by following the arrows.

Figure 2 - Mother a carrier; father suffering from hemophilia.

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Diagnosis of hemophilia
• The most common method for diagnosing Hemophilia is a blood test.
• The sample of blood taken from your vein indicates the factors responsible for
Hemophilia. The blood test measures the amount of plasma present.
• in your blood the low level of plasma in the blood.
• indicates the severity of this bleeding disorder.

Hemophilia A

Also known as classic hemophilia or Factor VIII Deficiency People with this type of
hemophilia have low levels of a blood clotting factor called figure 8 (FVIII). It's the most
common.

Mild Hemophilia: Do NOT have spontaneous bleeding but unusual bleeding occurs with
surgery and tooth extractions. People are usually diagnosed with this in later life. Moderate
Hemophilia A spontaneous bleeding, delayed oozing after minor injury, and usually
diagnosed before they are 5 to 6years old.

Severe Hemophilia A Spontaneous joint or deep muscle bleeding. Usually diagnosed within
first two years of life.

Hemophilia B

Hemophilia B symptoms are classified as mild, moderate or severe. Healthcare providers

classify hemophilia symptoms by the level of factor 9 in people’s blood.

I. Mild hemophilia B

People who have factor 9 levels between 6% to 49% have mild hemophilia B and mild
symptoms. In some cases, people with mild hemophilia B aren’t diagnosed until they’re
adults and need surgery, give birth, have a serious injury or if they’re female, seek treatment
to ease very heavy periods.

II. Moderate hemophilia B

People who have factor 9 levels between 1% to 5% have moderate hemophilia B and
moderate symptoms. Children with moderate hemophilia B typically start showing
symptoms when they’re 18 months old.

These children may have the following symptoms:

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 • Bruises: They bruise very easily.

• Unusual bleeding: If they have surgery, have an injury that causes bleeding or have
a tooth pulled, they’ll bleed more than is normal and for longer than expected.

• Spontaneous bleeding: Rarely, they’ll begin to bleed for no apparent reason.

III. Severe hemophilia B

People with factor 9 levels below 1% have severe hemophilia B and severe symptoms.
Some children who have severe hemophilia B bleed as they’re being born, right after
they’re born or when they’re undergoing circumcision. Other children develop symptoms
a few months after they’re born. Common symptoms include:

• Bleeding: Babies and toddlers may bleed from their mouths after minor injuries,
like bumping their mouths on a toy.

• Swollen lumps on their heads: Babies and toddlers who bump their heads often
develop goose eggs — large round lumps on their heads.

• Fussiness, irritability or refusing to crawl or walk: These symptoms may happen if

babies and toddlers have internal bleeding into a muscle or joint. They may have
areas on their bodies that look bruised and swollen, feel warm to your touch or make
your child hurt when you gently touch the area.

• Hematomas: A hematoma is a mass of congealed blood that gathers under babies’

or toddlers’ skin. Babies and toddlers may develop hematomas after receiving an
injection.

• Breathing difficulties: Sometimes, bleeding may cause your child’s tongue to swell
so much that it blocks their airway. (California., 2023)

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Treatment for hemophilia
The main treatment for severe hemophilia involves replacing the clotting factor you need
through a tube in a vein.

This replacement therapy can be given to treat a bleeding episode in progress. It can also
be given on a regular schedule at home to help prevent bleeding episodes. Some people
receive continuous replacement therapy.

Replacement clotting factor can be made from donated blood. Similar products, called
recombinant clotting factors, are made in a laboratory, not from human blood.

Other therapies include:

• Desmopressin: In some forms of mild hemophilia, this hormone can stimulate the
body to release more clotting factor. It can be injected slowly into a vein or used as
a nasal spray.

• Emicizumab (Hemlibra): This is a newer drug that doesn't include clotting factors.
This drug can help prevent bleeding episodes in people with hemophilia A.

• Clot-preserving medications: Also known as anti-fibrinolytics, these medications

help prevent clots from breaking down.

• Fibrin sealants: These can be applied directly to wound sites to promote clotting
and healing. Fibrin sealants are especially useful for dental work.

• Physical therapy: It can ease signs and symptoms if internal bleeding has damaged
your joints. Severe damage might require surgery.

• First aid for minor cuts: Using pressure and a bandage will generally take care of
the bleeding. For small areas of bleeding beneath the skin, use an ice pack. Ice pops
can be used to slow down minor bleeding in the mouth. (hoacny, 20232)

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CHAPTER THREE

Methodology and Tools used to analyze the data and the processes

The internet can be a valuable resource for collecting facts and data on a wide range of
topics. However, it's important to verify the accuracy and reliability of the information we
find, as not all sources on the internet are trustworthy.

To verify the accuracy of the data this collect, we can check multiple sources and compare
the information. Look for credible sources such as government websites, academic
journals, and reputable news organizations. we can also check the credentials and expertise
of the author or organization providing the information.

Pie charts are a useful tool for analyzing data, particularly when we want to show how
different parts of a whole contribute to the overall picture. Pie charts are easy to read and
understand, making them a popular choice for visualizing data.

To analyze data using a pie chart, you first need to collect the data you want to represent.
Once you have the data, you can use a software program like Microsoft Excel to create a
pie chart. The chart will show the different parts of the whole as sections of a circle, with
each section representing a different data point. The size of each section will correspond to
the proportion of that data point in the overall data set.

In summary, collecting facts and data from the internet can be a useful way to gather
information, but it is important to verify the accuracy and reliability of the sources you use.
Pie charts can be an effective tool for analyzing data and representing it visually.

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Time schedule

Time March April

1st 2nd 3rd 4th 1st 2nd 3rd 4th

Activity

Selection of
topic and
preparation
and approval
of project
proposal.
Getting
information
and advice for
the project.

Starting with
the
information
and
instructions
received for
the project.
Finishing the
project.

submission
of the
project

Table 1- time schedule of the project

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CHAPTER FOUR

Data analysis of hemophilia ((WFH), 2023)

The World Federation of Hemophilia (WFH) has announced the publishing of a fresh study
on the prevalence of hemophilia around the world, the findings of which support a figure
that is considerably greater than the estimations from the prior studies. The Annals of
Internal Medicine revealed the startling study's results.

The study set a new standard for calculating the birth prevalence of hemophilia, which is
calculated as the proportion of hemophiliacs per 100,000 male births. According to an
analysis by researchers, there are 25 cases of all severities of hemophilia A at birth, 10 cases
of severe hemophilia A, 5 cases of all severities of hemophilia B, and 2 cases of severe
hemophilia B. According to the study, there are roughly 1,125,000 males globally who have
hemophilia, which is a significant increase from the prior estimate of 400,000. Additionally,
it is estimated that 418,000 of them have severe hemophilia, the majority of whom go
undiagnosed.

Number of hemophilia patients

Africa America Eastern Mediterranean Europe South Asia Western pacific

Figure 3 - Number of hemophilia patients

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CHAPTER FIVE

1. Limitations

i. accurate sources of information about hemophilia, especially with the vast amount
of information available online.
ii. Understanding complex scientific terminology: Hemophilia is a complex genetic
disorder, and understanding the technical terminology associated with the condition
can be difficult for non-experts.
iii. Keeping up with advancements: Research on hemophilia is continually evolving,
and keeping up with the latest advancements can be challenging.
iv. Dealing with emotional stress: Hemophilia can have significant impacts on
individuals and families, and researching the condition can be emotionally
challenging for some.
v. Access to resources: Access to resources, such as research funding or specialized
equipment, can also be a challenge for studying hemophilia research.

2. Conclusion

Hemophilia is a genetic blood clotting disorder that affects approximately 400,000

individuals worldwide. In recent years, there has been a growing interest in using
technology to connect patients with hemophilia to healthcare providers, other patients, and
educational resources. The aim of this study was to evaluate the effectiveness of a mobile
application, Hemophilia Connect, in improving patient outcomes.

The study found that Hemophilia Connect was associated with significant improvements
in treatment adherence, knowledge of the disease, and quality of life. Patients who used the
app reported feeling more connected to their healthcare providers and other patients, which
may have contributed to these positive outcomes.

From a theoretical perspective, this study highlights the potential benefits of using
technology to support patient self-management and engagement in their care. Social
cognitive theory suggests that individuals are more likely to engage in health-promoting
behaviors when they have self-efficacy, social support, and access to resources. Hemophilia

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Connect provides patients with these factors by connecting them to a network of peers and
healthcare professionals who can offer support and guidance.

In terms of practice, the results of this study suggest that healthcare providers may want to
consider incorporating mobile health applications like Hemophilia Connect into their
standard care protocols. By doing so, they may be able to improve patient outcomes and
promote better self-management of chronic conditions.

Finally, from a policy perspective, this study underscores the importance of investing in the
development and evaluation of mobile health technologies for patients with chronic
conditions. As healthcare systems continue to shift towards value-based care, it will be
increasingly important to identify and implement interventions that improve patient
outcomes while reducing costs. Mobile health applications like Hemophilia Connect may
represent a promising avenue for achieving these goals.

In conclusion, the study results suggest that Hemophilia Connect has the potential to
improve patient outcomes by promoting treatment adherence, knowledge of the disease,
and quality of life. These findings have important implications for theory, practice, and
policy, and highlight the potential benefits of using technology to support patient self-
management and engagement in their care.

3. Suggestions and recommendations for further improvements in the system.

Based on the current state of the technology and the challenges associated with diagnosing
hemophilia and prescribing medication, here are some suggestions and recommendations
for further improvement of the system:

i. Incorporate artificial intelligence (AI) and machine learning (ML) technologies: AI

and ML algorithms can be used to identify patterns and trends in patient data,
helping healthcare providers make more accurate diagnoses and treatment
decisions.

ii. Implement a patient data tracking system: Implementing a system that allows
healthcare providers to track patient data, such as bleeding episodes, clotting

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 factors, and medication usage, can provide valuable insights into the effectiveness
of different treatment regimens.

iii. Develop personalized treatment plans: By leveraging patient data, AI and ML

algorithms, and other clinical decision support tools, healthcare providers can
develop personalized treatment plans that are tailored to each patient's unique needs.

iv. Use telemedicine and remote monitoring: Telemedicine and remote monitoring
technologies can be used to provide ongoing care and support to patients with
hemophilia, regardless of their location. This can help ensure that patients receive
timely and appropriate care, even in rural or underserved areas.

v. Expand access to genetic testing: Genetic testing can help identify patients with
hemophilia earlier, allowing for earlier diagnosis and intervention. Expanding
access to genetic testing, particularly in developing countries, could help improve
outcomes for patients with hemophilia.

vi. Foster collaboration and information sharing: Collaboration and information

sharing among healthcare providers, researchers, and patient advocacy groups can
help advance our understanding of hemophilia and lead to the development of more
effective diagnostic and treatment strategies.

Overall, improving the system for diagnosing and treating hemophilia will require ongoing
investment in research, technology, and collaboration. By taking a holistic and patient-
centered approach, we can work towards improving outcomes for individuals with
hemophilia and their families.

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References
(WFH), W. F. o. H., 2023. National Hemophilia Foundatoin. [Online]
Available at: https://www.hemophilia.org/news/wfh-lead-research-points-to-higher-global-
hemophilia-prevalence
[Accessed 27 4 2023].
California., T. R. o. T. U. o., 2023. UCSF Health. [Online]
Available at: https://www.ucsfhealth.org/conditions/hemophilia/diagnosis
[Accessed 27 4 2023].
hoacny, 20232. Hematology Oncology Associates of CNY. [Online]
Available at: https://www.hoacny.com/patient-resources/blood-disorders/what-hemophilia/how-
hemophilia-treated
[Accessed 27 4 2023].
hog.org, 2023. Hemophilia of Georgia. [Online]
Available at: https://www.hog.org/handbook/section/2/how-hemophilia-is-inherited
[Accessed 26 4 2023].
society, C. H., 2010. 1 An Intro to Hemophilia FINAL. In: s.l.:s.n., p. 17.
Wikipedia, 2023. Wikipedia. [Online]
Available at: https://en.wikipedia.org/wiki/Haemophilia
[Accessed 27 4 2023].

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