NAME: Kshipra Jadhav

ROLL NUMBER: 98
CLASS: XI ‘E’
SUBJECT: Biology

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2023-24 CBSE CLASS 11Investigatory project
 Acknowledgement

I would like to express my special thanks of

gratitude to my teacher Mrs. Debalina, who gave
me the golden opportunity to do this project on the
topic Sickle Cell Anemia. I would also
like to express my thanks to our lab assistant who
helped me to line up the project and helped me with
practical work.

A special acknowledgement goes to our principal

Mrs. Ashwini Anand who gave me the golden
opportunity of this wonderful project which also
helped me in doing a lot of research and I came to
know about so many new things.

I wish to thank my parents as well for their support

and encouragement without which I could not have
completed this project in the limited time frame.
In the end, I want to thank my friends who displayed
appreciation for my work and motivated me to continue
my work.

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 INDEX
Sl. no Title Page
No.
01 Cover page 1

02 Acknowledgement 2

03 Index 3

04 Introduction 4

05 Abstract 5

06 Why is Sickle Cell Anemia caused? 6

06 Why is Sickle Cell Anemia caused? 7

07 Morphology of Sickle cell 8

07 Morphology of Sickle cell 9

08 Prognosis of the person suffering with this disorder 10

09 Treatment 11

10 Effects of this disorder on mental health 12

11 Sickle Cell Anemia in India 12

12 Conclusion 13

13 Bibliography 14

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 Introduction
Anemia is defined as a low number of red blood cells. In a routine
blood test, anemia is reported as low haemoglobin or
haematocrit. Haemoglobin is the main protein in your red blood
cells. It carries oxygen and delivers it throughout your body. If
you have anemia, your haemoglobin level will be low, too. If it is
low enough, your tissues or organs may not get enough
oxygen. Symptoms of anemia – like fatigue or shortness of
breath – happen because your organs aren't getting what they
need to work the way they should.

There are many types of anemia. All have different causes and
treatments. Some forms – like the mild anemia that happens
during pregnancy – aren’t a major concern. However, some
types of anemia may reflect a serious medical condition. Some
types of anemia are Aplastic anemia, Iron deficiency anemia,
Sickle cell anemia, Thalassemia, and Vitamin deficiency
anemia. In this project, we are going to discuss about Sickle
Cell Anemia.

Sickle cell Anemia is a group of inherited red blood cell disorders.

Healthy red blood cells are round, and they move through small
blood vessels to carry oxygen to all parts of the body. In
someone who has this disorder, the haemoglobin is abnormal,
which causes the red blood cells to become hard and sticky and
look like a C-shaped farm tool called a “sickle.” The sickle cells
die early, which causes a constant shortage of red blood cells.
Also, when they travel through small blood vessels, they get
stuck and clog the blood flow. This can cause pain and other
serious complications (health problems) such as infection, acute
chest syndrome, and stroke.

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 Abstract
This abstract provides us a concise overview on the disorder of
Sickle cell anemia. Why is this a disorder? The answer to this
question is because it causes an irregularity, disturbance, or
interruption of normal functions. It is a serious health problem
that affects millions of people in India. In this project we are
going to talk about why it caused, the morphology of the sickle
cell, the prognosis, the treatment, and many more things we
need to study this disorder in detail. One of the most common
and debilitating symptoms of sickle cell anemia is pain. This
can be a chronic or constant pain, as well as spikes of sudden
debilitating pain. Pain also can contribute to fatigue, a common
symptom of anemia, as it can be difficult to sleep.

Efforts have been made to cure this disorder and major

changes in diet have also given relief. What is the sickle cell
anemia prevention program in India? The National Sickle Cell
Anaemia Elimination Program, introduced in the Union Budget
2023, focuses on addressing the significant health challenges
posed by sickle cell disease, particularly among tribal
populations of the country.

Proper medical care is required for this disorder, which causes

a shortage of RBC cells. Additionally, the patient's mental
health must be taken into consideration, as it can significantly
impact their condition. It is imperative that we prioritize the
prevention and prediction of illnesses in order to enhance the
quality of life.

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 CONTENT
Why is sickle cell anemia caused?
Mutations in the HBB gene cause sickle cell disease.
The HBB gene provides instructions for making one part of
haemoglobin. Haemoglobin consists of four protein subunits,
typically, two subunits called alpha-globin and two subunits
called beta-globin. The HBB gene provides instructions for
making beta-globin. Various versions of beta-globin result from
different mutations in the HBB gene. One particular HBB gene
mutation produces an abnormal version of beta-globin known
as haemoglobin S (Hbs). Other mutations in the HBB gene lead
to additional abnormal versions of beta-globin such as
haemoglobin C (HbC) and haemoglobin E (HbE). HBB gene
mutations can also result in an unusually low level of beta-
globin; this abnormality is called beta thalassemia.
THE HBB GENE:

A person has sickle cell trait when they inherit haemoglobin S

gene from one parent and a normal haemoglobin gene —
haemoglobin A — from the other. They are a carrier of the
haemoglobin S gene and can pass it on when they have a
child.

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 In the image, each parent
has one normal
haemoglobin A gene and
one haemoglobin S gene,
which means each of their
children has:

 A 25%, or 1 in 4,
chance of inheriting two
normal haemoglobin A
genes. This child does not
have sickle cell trait or
disease.
 A 50%, or 1 in 2, chance of inheriting one normal
haemoglobin A gene and one haemoglobin S gene. This child
has sickle cell trait.
 A 25%, or 1 in 4, chance of inheriting two haemoglobin S
genes. This child has sickle cell disease.

It is important to keep in mind that each time this couple has a

child, the chances of that child having sickle cell disease
remain the same. In other words, if the first child has sickle cell
disease, there is still a 25% chance that the second child will
also have the disease. Both boys and girls can inherit sickle cell
trait, sickle cell disease, or normal haemoglobin.

If a person wants to know whether they carry a sickle

haemoglobin gene, a healthcare provider can order a blood test
to find out.

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Morphology of sickle cell
In the case of sickle cell disorder,
the red blood cells undergo a
change in shape, assuming a sickle
shape instead of their usual
biconcave,disc like shape.
Sickled haemoglobin is not like
normal haemoglobin. Stiff strands can form within the red blood
cell of the abnormal haemoglobin. These stiff strands can
change the shape of the cell, causing the sickled shape that
gives the disease its name. Sickle-shaped red blood cells are not
flexible and can stick to vessel walls, causing blockages that
slow or stop the flow of blood.

The sickle-shaped cells cannot deliver oxygen to the rest of the

body. This can cause attacks of sudden severe pain, called pain
crises. These pain crises can occur without warning, and a
person who has them often needs to go to the hospital for
effective treatment.

Sickle cells have difficulty changing shape and are prone to

breaking apart. Unlike normal red blood cells that have a
lifespan of 90 to 120 days, sickle cells only last 10 to 20 days.
Although the body produces new red blood cells to replace the
old ones, sickle cell disease can impede this process. As a
result, people with this disease often have a lower red blood
cell count than those without it, leading to anemia and
decreased energy levels.

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Prognosis of the person suffering with this
disorder
Individuals with sickle cell disease
typically have a life expectancy that
is 20 to 30 years less than that of
healthy adults. Nonetheless,
advancements in therapy have
demonstrated an increase in
survival rates.
In India about 20 per cent of children with sickle disease died
by the age of two as reported in one ICMR survey, and 30 per
cent children with Sickle cell anemia among the tribal
community die before they reach adulthood.
One may undergo organ damage due to lack of oxygen. Sickle
cells that block blood flow to organs deprive the affected organs
of blood and oxygen. Blood is also chronically low in oxygen.
This lack of oxygen-rich blood can damage nerves and organs,
including kidneys, liver and spleen, and can be fatal. Necrosis
and Ischemia are seen in the affected organ system, with liver,
bone marrow, lungs, spleen, kidneys, and lungs the commonly
affected organs.
Necrosis: The death of body tissue. It occurs when too little
blood flows to the tissue.
Ischemia: Ischemia, also called cardiac ischemia, reduces the
heart muscle's ability to pump blood. A sudden, severe
blockage of one of the heart's artery can lead to a heart attack.
Myocardial ischemia might also cause serious abnormal heart
rhythms.
Prognosis has improved with good supportive care and many
people with sickle cell disease survive into middle age.

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 Treatment
A bone marrow transplant is currently the only known cure.
However, if caught early, the healthcare provider may suggest
using medications or transfusions to manage complications and
chronic pain. Some of the medications used include
antimetabolites, nonsteroidal analgesics, and haemoglobin
oxygen-affinity modulators.

In addition, certain lifestyle changes can also help improve

symptoms. One can try incorporating more zinc and folate-rich
foods into their diet, as well as increasing their fluid intake to
prevent dehydration and replenish the nutrients the body uses
up.

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Effects of this disorder on mental health
Sickle cell Anemia patients may experience feelings of sadness
and frustration, which can lead to various psychological issues
like anxiety, depression, and even psychosis over time. These
patients often suffer from significant emotional distress due to
the complexities of their condition. Their pain may also indicate
the presence of a mental health disorder. Some of the most
prevalent psychiatric comorbidities include anxiety disorders,
depression, sleep disorders, and bipolar disorder. Previous
studies have also found cognitive impairments among children
with sickle cell disease, such as reduced memory span and
working memory.
Sickle Cell Anemia in India
With the introduction of the National Sickle Cell Anaemia
Elimination Program in the Union Budget 2023, attention has
been drawn to the serious health issues that sickle cell disease
poses, particularly for the nation's tribal groups. This program,
which has been put into place in 17 high-focus states across
the nation, aims to enhance the treatment and future prospects
of all sickle cell disease patients while lowering the condition's
prevalence. Gujarat, Maharashtra, Rajasthan, Madhya
Pradesh, Jharkhand, Chhattisgarh, West Bengal, Odisha, Tamil
Nadu, Telangana, Andhra Pradesh, Karnataka, Assam, Uttar
Pradesh, Kerala, Bihar, and Uttarakhand make up the list of 17
states.
By aiming to end sickle cell genetic transmission by the year
2047 as a part of the National Health Mission (NHM), the
initiative demonstrates a long-term commitment to the
eradication of the illness. The program aims to scan almost 7.0
crore people over a three-year period, from the fiscal years
2023–2024 to 2025–2026. This lofty objective demonstrates the
program's commitment to reaching a sizable segment of the
population and encouraging early identification and action.
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 Conclusion
To summarize, sickle cell anemia is a serious condition that
results from a change in the shape of our red blood cells,
causing a decrease in oxygen levels throughout the body. This
project pertains to a chapter in our curriculum that covers this:

 Body Fluids and Circulation

 Breathing and Exchange of Gases
We discover how genetics significantly influences the likelihood
that this condition will exist in the progeny. To avoid carrying
the disease and to preserve a healthy life, it is crucial for us to
get tested. The tribal people of India are more likely to suffer
from this disorder, and the Indian government is taking action to
improve their quality of life.
The prognosis and expected length of life for someone who has
this condition are not promising. There are numerous
psychological effects on the individual that need to be
addressed. There are numerous effects on the brain that are
also observed, and general psychological action must be
performed.
One thing I've learnt from this study is that greater knowledge
about this problem is needed; people need to learn and be
educated that there are people like this, that there are genes
that cause this to happen, and that more medical camps are
needed to uncover this.
There are various social consequences to this, such as
stigmatization, educational hurdles, workplace adjustments,
and many others, and the community must assist them.

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 Bibliography
https://www.webmd.com/
https://medlineplus.gov/
https://www.genecards.org/cgi-bin/carddisp.pl?gene=HBB
https://imagebank.hematology.org/image/3958/sickle-cell-
disease-ndash-rbc-morphology--1
https://pib.gov.in/

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