Internship

Academic year 2022-23

Project Report

Submitted by:
PNS Reddy Vinay
Reg no:2022BBLH07ASL085
BBA.LLB SEM-II
Alliance University, Bangalore.
INDEX

1. Introduction to Hemophilia

2. Causes and Genetics

3. Types of Hemophilia
3.1. Hemophilia A
3.2. Hemophilia B
3.3. Hemophilia C
4. Symptoms and Diagnosis
4.1. Hemophilia Symptoms
4.2. Hemophilia Diagnosis
5. Treatment and Management
5.1. Clotting Factor Replacement Therapy
5.2. Prophylactic Treatment
5.3. Gene Therapy
5.4. Extended Half-life Clotting Factors
6. Challenges and Complications
6.1. Hemophilic Arthropathy
6.2. Inhibitors to Clotting Factors
7. Psychosocial Impact

8. Current Research and Outlook1

9. Conclusion
 REPORT ON
HEMOPHILIA
CARE4HEMO: Enhancing Lives, Empowering Hemophilia Patients"

Presented to:
NGO – Mr. P.Krishna Murthy(President)
PREFACE:
I had to do a internship as part of my BBA LLB programme in order to gain the
necessary experience, and I had to do a Project on few social actions. I had learnt during
that time and explain how they applied to our NGO. The report is being written on the
subject of [HEMOPHILIA]CARE4HEMO: Enhancing Lives, Empowering Hemophilia
Patients"
and its major goal is to comprehend how the NGO employs these methods, how they
work, and how they develop relationships. The internship provided me with a fantastic
opportunity to put the knowledge and skills I had learned during my internship period ,
while gaining real-world work experience. I faced numerous obstacles throughout the
internship that put my skills at problem-solving to the test. I am incredibly appreciative
of the chance to have taken on this internship as well as the assistance and direction I
received while I was there. I want this report to be a representation of the knowledge. I
picked up from my internship.

-PNS Reddy
Vinay
1. Introduction to Hemophilia:
Hemophilia is a rare, inherited bleeding disorder characterized by a deficiency in specific
clotting factors, which are essential proteins responsible for coagulation, the process that stops
bleeding. This enigmatic disease has been known for centuries, with its first description dating
back to ancient times. Hemophilia primarily affects males and is caused by a genetic mutation
that disrupts the production of crucial clotting factors. It leads to prolonged bleeding after minor
injuries, surgeries, or dental procedures and can result in both external and internal bleeding.
The history of hemophilia dates back to the ancient civilizations of Egypt and Greece, where
accounts of individuals with prolonged bleeding after injury were recorded. However, it wasn't
until the 19th century when systematic studies were initiated, leading to a deeper understanding
of the disorder's genetics. Queen Victoria of England played a significant role in spreading the
disease in European royal families, earning hemophilia the nickname "the Royal Disease."
During the 20th century, medical advancements led to the development of clotting factor
replacement therapies, marking a turning point in hemophilia management.
The hallmark symptom of hemophilia is prolonged bleeding, which may occur externally or
internally. Patients with hemophilia have impaired clot formation, leading to frequent
nosebleeds, easy bruising, and prolonged bleeding from cuts or wounds. Internal bleeding can
occur in muscles and joints, causing pain, swelling, and restricted movement. Repeated episodes
of internal bleeding may lead to chronic joint damage, known as hemophilic arthropathy.
Early diagnosis is crucial for proper management and preventing complications. Blood tests are
performed to measure the levels of specific clotting factors, and genetic testing may be
conducted to identify the specific mutation responsible for hemophilia.
The management of hemophilia aims to prevent and control bleeding episodes while preserving
joint function and overall quality of life. The mainstay of treatment involves the replacement of
the deficient clotting factor through intravenous infusions. Factor replacement therapy can be
administered either on-demand (during bleeding episodes) or prophylactically (regularly to
prevent bleeding). Advances in clotting factor concentrates have led to improved treatment
outcomes and reduced complications.
Despite significant progress in managing hemophilia, several challenges persist. Accessibility to
treatment, especially in low-resource settings, remains an issue. Additionally, the development
of inhibitory antibodies against clotting factors (inhibitors) is a major complication in
hemophilia treatment. Inhibitors neutralize the effect of clotting factor replacements, making it
difficult to control bleeding episodes effectively.
Research in hemophilia has led to exciting advancements, including the development of
extended half-life clotting factor concentrates, gene therapy, and innovative treatment strategies
to tackle inhibitors. Gene therapy shows promise as a potential cure for hemophilia by
introducing functional genes to produce the deficient clotting factor, thereby eliminating the
need for lifelong factor replacement therapy.

2. Causes and Genetics:

Hemophilia is primarily an X-linked recessive disorder, which means it mostly affects males.
Females can also be carriers of the faulty gene, and in some cases, they may experience mild
bleeding symptoms. The genetic mutations responsible for hemophilia can vary in severity,
leading to different levels of clotting factor deficiency.

Hemophilia A and B result from different genetic mutations. Hemophilia A is more common,
affecting about 1 in 5,000-10,000 males, while Hemophilia B is rarer, affecting about 1 in
25,000-30,000 males. Both types of hemophilia are caused by mutations in the respective genes
that provide instructions for producing clotting factors.
3. Types of Hemophilia:
Hemophilia A, Hemophilia B, and Hemophilia C are the three main types of this bleeding
disorder. Hemophilia A is caused by a deficiency in clotting factor VIII, Hemophilia B by a
deficiency in clotting factor IX, and Hemophilia C by a deficiency in clotting factor XI.
Hemophilia C is milder compared to A and B, and it can affect both males and females.

3.1. Hemophilia A:
Hemophilia A is the most common form of hemophilia and is caused by a deficiency of clotting
factor VIII. The severity of Hemophilia A varies depending on the level of factor VIII in the
blood. Patients with severe Hemophilia A have less than 1% of the normal factor VIII levels,
while those with mild hemophilia have 5-40% of normal levels.

3.2. Hemophilia B:
Hemophilia B is also known as Christmas disease and is caused by a deficiency of clotting factor
IX. Like Hemophilia A, the severity of Hemophilia B depends on the amount of factor IX
present in the blood. Severe cases have less than 1% of normal factor IX levels, while mild cases
have 5-40% of normal levels.

3.3. Hemophilia C:
Hemophilia C is the mildest form of hemophilia and is caused by a deficiency of clotting factor
XI. Unlike Hemophilia A and B, Hemophilia C can affect both males and females. However, its
prevalence is much lower compared to A and B.
4. Symptoms and Diagnosis:
The main symptoms of hemophilia include prolonged bleeding after injuries, easy bruising, joint
and muscle bleeding, and excessive bleeding after surgeries or dental procedures. These
symptoms are primarily attributed to the impaired clotting ability of the blood.

4.1. Hemophilia Symptoms:

The severity of hemophilia symptoms varies based on the type and severity of the condition.
Severe cases may experience spontaneous bleeding into joints and muscles, while mild cases
may have bleeding only after trauma or surgery.
4.2. Hemophilia Diagnosis:
Diagnosing hemophilia involves a series of blood tests to measure clotting factor levels. In cases
of suspected hemophilia, the levels of clotting factors VIII, IX, or XI are measured, along with
other relevant clotting tests. A family history of hemophilia is also crucial in diagnosing the
condition.
5. Treatment and Management:
While there is no cure for hemophilia, it can be managed effectively with proper treatment. The
primary approach involves replacing the missing clotting factor through intravenous infusions.
These infusions can be done on-demand, where clotting factors are administered when bleeding
occurs, or prophylactically, where regular infusions are given to prevent bleeding episodes.

5.1. Clotting Factor Replacement Therapy:

Clotting factor replacement therapy is the cornerstone of hemophilia treatment. It involves
infusing clotting factor concentrates to replenish the missing or deficient factor in the blood.
These concentrates are derived from donated human plasma or produced through recombinant
biotechnology.
5.2. Prophylactic Treatment Prophylactic treatment is the administration of clotting factor
concentrates at regular intervals, even in the absence of bleeding, to prevent bleeding episodes.
This approach aims to maintain clotting factor levels within a safe range and reduce the risk of
spontaneous bleeding.

5.3. Gene Therapy:

Gene therapy is an emerging treatment option for hemophilia, offering the potential for a one-
time treatment that can correct the genetic mutation responsible for the disorder. In gene therapy,
a functional copy of the faulty gene is introduced into the patient's body, allowing the body to
produce the missing clotting factor naturally.
5.4. Extended Half-life Clotting Factors:
Extended half-life clotting factors are modified clotting factor concentrates that remain active in
the bloodstream for a more extended period, allowing for less frequent infusions. This
advancement has improved convenience and reduced the treatment burden for patients with
hemophilia.

6. Challenges and Complications:

Living with hemophilia can be challenging, as patients must be vigilant to avoid injuries and
bleeding events. This often requires adopting a lifestyle that minimizes the risk of trauma.
Engaging in non-contact sports, wearing protective gear, and learning how to manage bleeds at
home are crucial aspects of managing hemophilia.

6.1. Hemophilic Arthropathy:

If not managed well, repeated bleeding into joints can cause permanent damage, leading to joint
deformities and chronic pain. This condition, known as hemophilic arthropathy, can significantly
impact a patient's mobility and quality of life. Physiotherapy and joint protection techniques play
a vital role in preventing and managing joint damage.
6.2. Inhibitors to Clotting Factors:
In some patients, inhibitors to clotting factors can develop, making treatment more complex.
Inhibitors are antibodies that neutralize clotting factors, rendering the standard clotting factor
replacement therapy ineffective. Managing inhibitors involves using bypassing agents or
immune tolerance induction to overcome their effects.

7. Psychosocial Impact:
Livingwith a chronic condition like hemophilia can also have a psychosocial impact on patients
and their families. Coping with the challenges of the disorder, managing treatment, and dealing
with potential limitations in physical activities can lead to emotional stress. Support from
healthcare professionals, patient support groups, and counseling services can help patients and
families navigate these challenges.
1. Emotional Distress: Hemophilia patients and their families often experience heightened
emotional distress due to the constant fear of bleeding episodes and associated
complications. The uncertainty of when and where bleeding might occur can lead to
anxiety, stress, and depression.
2. Social Isolation: Hemophilia may lead to social isolation, as patients may be hesitant to
participate in physical activities and events due to the risk of injury and bleeding. This
isolation can result in feelings of loneliness and can negatively impact the patient's social
life and relationships.
3. Limitation of Activities: Hemophilia can restrict a patient's participation in everyday
activities, including sports, recreational pursuits, and physical exercises. This limitation
may lead to feelings of frustration and a sense of missing out on life experiences.
4. Stigma and Discrimination: Some hemophilia patients may encounter stigma and
discrimination due to misconceptions about the disease. They may face negative attitudes
from others who do not understand the condition, leading to feelings of alienation and
low self-esteem.
5. Coping with Chronic Illness: Hemophilia is a lifelong condition that requires ongoing
management and treatment. Patients may need to cope with the challenges of adhering to
 medication schedules, attending regular medical appointments, and managing pain and
physical limitations.
6. Family Impact: The psychosocial impact of hemophilia extends to the patient's family,
who may experience stress, worry, and financial burden related to the management of the
disease. Parents of children with hemophilia may have additional concerns about their
child's safety and well-being.
7. Educational and Occupational Challenges: Hemophilia can affect a patient's educational
and occupational pursuits. Frequent hospital visits, bleeding episodes, and physical
limitations may disrupt academic and career goals, leading to frustration and a sense of
unfulfillment.
8. Mental Health: The psychosocial impact of hemophilia can take a toll on a patient's
mental health. Chronic stress and anxiety may contribute to the development of mental
health conditions such as depression and adjustment disorders.

8. Current Research and Outlook:

Advancements in gene therapy and improved clotting factor products offer promising
developments in hemophilia treatment. Gene therapy involves introducing a functional copy of
the faulty gene into the patient's body, potentially curing the disorder at its source. Early clinical
trials have shown encouraging results, but more research is needed to establish its long-term
safety and effectiveness.

Additionally, researchers are exploring alternative treatments, such as RNA interference therapy,
which aims to suppress the production of inhibitors and improve the management of hemophilia.

Moreover, improved access to treatment and healthcare services is essential, especially in

regions with limited resources, to ensure that all patients with hemophilia can receive the care
they

DISA{NGO} initiative to help Hemophilia Patients:

Role of HFI
Hemophilia Federation of India (HFI) collaborates with pharmaceutical companies to
procure clotting factors.
The Hemophilia Federation of India (HFI) plays a pivotal role in ensuring access to
vital clotting factor medications for individuals living with hemophilia. One of its
significant initiatives involves the supply of these crucial medications to organizations
such as DISA (Development Initiatives For Social Action), which are dedicated to
supporting individuals with hemophilia and bleeding disorders.

Hemophilia, a rare and challenging bleeding disorder, affects millions worldwide. While medical
advancements have improved treatment options, many individuals still face difficulties in
accessing the necessary medications and care. In the face of this pressing issue, nonprofit
organizations like DISA have emerged to bridge the gap between vulnerable hemophilia patients
and life-changing medicines. DISA, is an NGO dedicated to providing assistance and support to
poor hemophilia patients, enabling them to lead healthier, more fulfilling lives. Through their
tireless efforts and commitment, DISA has emerged as a beacon of hope for those in need,
empowering lives and transforming futures.
1.Understanding the Hemophilia Challenge
Hemophilia is a complex and lifelong condition that requires ongoing medical care, particularly
the administration of clotting factor concentrates to prevent bleeding episodes and
complications. However, the cost of these essential medicines, combined with limited access to
healthcare facilities and information, poses a significant challenge for many impoverished
hemophilia patients. Without timely and adequate treatment, patients may suffer severe bleeding
episodes, chronic joint damage, and reduced quality of life.
2.A Multifaceted Approach to Support
DISA adopts a multifaceted approach to support poor hemophilia patients. Central to their
mission is providing free clotting factor concentrates to patients who cannot afford these life-
saving medications. By sourcing and distributing medicines from various manufacturers and
donors,DISA ensures that patients receive uninterrupted access to treatment.
Moreover, DISA conducts awareness and educational programs to inform communities about
hemophilia, its management, and the importance of early diagnosis. These initiatives aim to
dispel myths, reduce stigma, and promote a supportive environment for hemophilia patients and
their families.
3.Building a Strong Support Network
A vital aspect of DISA's success lies in its ability to foster a strong support network. The
organization collaborates with healthcare facilities, medical professionals, and pharmaceutical
companies to streamline the distribution of medicines and resources. Through these partnerships,
DISA can expand its reach, providing aid to a more extensive network of poor hemophilia
patients across different regions.
4.Empowering Hemophilia Patients
Beyond the provision of medicines, DISA empowers hemophilia patients through various
initiatives. The organization conducts skill development programs and vocational training,
aiming to equip patients with employable skills and income-generating opportunities. By
fostering economic independence, DISA aims to reduce the financial burden on patients and
their families, enhancing their overall well-being.

5.Addressing Mental Health Challenges

Living with a chronic condition like hemophilia can take a toll on patients' mental health. DISA
recognizes the importance of addressing the psychosocial impact of hemophilia and offers
counseling and mental health support services. These initiatives provide patients and their
families with a safe space to express their fears, anxieties, and challenges, fostering emotional
resilience and coping strategies.
6.Impact and Success Stories
Over the years, DISA's efforts have touched the lives of countless poor hemophilia patients.
Success stories abound, showcasing how timely access to medicines and comprehensive support
have transformed lives. Patients who once struggled to afford treatment now lead active and
fulfilling lives, free from the shackles of constant fear and uncertainty.
Conclusion:
DISA's commitment to helping poor hemophilia patients by providing access to life-saving
medicines exemplifies the essence of humanitarianism. Through their multifaceted approach, the
organization has transformed lives, offering hope and healing to those who need it most. As they
continue their tireless efforts, DISA serves as a beacon of compassion, inspiring others to join
the cause and create a world where every individual, regardless of their background, has the
opportunity to live a life of dignity, free from the burden of hemophilia. By fostering awareness,
advocacy, and support, DISA's journey symbolizes the power of humanity to come together and
make a difference. With a shared vision and collective action, we can build a future where no
hemophilia patient is left behind, and all can embrace a life of health, happiness, and
opportunity.