VELAMMAL VIDYALAYA

CBSE SCHOOL

Study on Mendelian Disorders

SICKLE CELL ANAEMIA

BIOLOGY PROJECT

SUBMITTED BY

Kanisha.S

XII-

2024-2025
 VELAMMAL EDUCATIONAL TRUST
VELAMMAL VIDYALAYA,
MELAYANAMBAKKAM

NAME: Kanisha.S BATCH NO:

CLASS: XII - REG NO:

CERTIFICATE
This is to certify that the biology investigatory project on the topic
“Mendelian Disorders” has been successfully completed by Kanisha.S
of class XII under the guidance of Gowri Ban in partial fulfillment of
Biology practical in the curriculum of SSCE-CBSE, New Delhi for the
academic year 2024-2025.

Teacher in charge

Signature of Internal Examiner Signature of External Examiner

Signature of Principal

ACKNOWLEDGEMENT

2
I am grateful to almighty for giving me the strength to complete
my project successfully with sustained efforts which many a
times oscillate.

I am deeply indebted to my biology teacher, Gowri Banu

without whose constructive feedback, the project would have
not been a success. The valuable advice and suggestion for
correction, modification and improvement did enhance the
quality of the task.

I am obliged to Mr. R. Velmurugan, our Principal for

providing best facilities and environment to bring out
innovation and spirit of inquiry through thus venture.

I take the special pleasure to acknowledge Ms.

Vijayalakshmi. H, our lab assistant for providing us with
necessary lab equipments.

CONTENTS

3
1) Aim…………………………………………………………..............…..5

2) What is sickle cell anaemia? A small

overview……………………………………………….…………...……6

3) A brief history of the discovery of sickle cell

anaemia……………………………………………………………...….7

4) Sickle cell anaemia as a genetic

disorder………………………………………………………..…………8

5) Symptoms of SSA……………………………………………………………………….9

6) What conditions promote distortion of Red Blood

Cells?..............................................................................................10.

7) Is there a difference between Sickle cell anaemia and Sickle

cell trait?..........................................................................................11

8) How is a Sickle crisis

treated?.......................................................................................... 12

9) What is the outlook for sickle cell anaemia? Can it be

cured?..............................................................................................14

10)Conclusion…………………………………………………….……..…15

11) Bibliography………………………………………………………….…16

4
 AIM

To study the signs, symptoms, genetic behavior and the evolution of the
disease Sickle Cell Anaemia or SSA with special attention on bone marrow
transplantation for its cure.

5
WHAT IS SICKLE CELL ANAEMIA? A SMALL OVERVIEW
In general, Sickle Cell Anaemia is a genetic disorder which causes the Red Blood
Corpuscles in the body to lose the disc shape and break down much before than the
usual life span of the RBCs that is 120 days. All these cells break quite early. In 30-40
days, is what doctors say. The sickled-cells take up the shape of a sickle( a tool used to
cut small plants) and therefore called Sickle cell Anaemia.

The sickle-shaped cells stick to vessel walls , causing a blockage that slows or stops
the flow of blood. As a result of this, oxygen can’t reach nearby tissues. The lack of
oxygen can cause attacks of sudden, very severe pain and unbearable pain, referred to
as a Sickle Cell Crisis.

The abnormal hemoglobin causes distorted (sickled appearing under a microscope)

red blood cells. The sickled red blood cells are fragile and prone to rupture. When the
number of red blood cells decreases from rupture (hemolysis), anemia is the result.
This condition is referred to as sickle cell anemia. The irregular sickled cells can also
block blood vessels causing tissue and organ damage and pain.

6
A BRIEF HISTORY OF THE DISCOVERY OF SICKLE CELL

ANAEMIA
In the annals of medical history, 1910 is regarded as the date of the discovery of sickle
cell disease, making 2010 the 100th anniversary of that discovery, but just what does it
mean to say the disease was “discovered”? The disorder we call “Sickle Cell Disease”
often abbreviated as SCD, had been present in Africa for at least five thousand years
and has been known by many names in many tribal languages. What we call its
“discovery” in 1910 occurred, not in Africa, but in the United States. A young man
named Walter Clement Noel from the island of Grenada, a dental student studying in
Chicago, went to Dr. James B. Herrick with complaints of pain episodes, and symptoms
of anemia. Herrick was a cardiologist and not too interested in Noel’s case so he
assigned a resident, Dr. Ernest Irons to the case. Irons examined Noel’s blood under the
microscope and saw red blood cells he described as “having the shape of a sickle”.
When Herrick saw this in the chart, he became interested because he saw that this
might be a new, unknown, disease. He subsequently published a paper in one of the
medical journals in which he used the term “sickle shaped cells”.

7
SICKLE CELL ANAEMIA AS A GENETIC DISORDER

This is an autosome linked recessive trait that can be transmitted from parents to the
offspring when both the partners are carrier for the gene (or heterozygous).The disease
is controlled by a single pair of allele, Hb(a) and Hb(s). Out of the three possible
genotypes, only homozygous individuals for Hb(s){HbsHbs} show the diseased
phenotype. Heterozygous [ Hb(a)Hb(s )] individuals appear apparently unaffected but
they are carrier of the disease as there is 50 per cent probability of transmission of the
mutant gene to the progeny, thus exhibiting sickle-cell trait.

This defect is caused by the substitution of Glutamic acid(Glu) by Valine(Val) at the

sixth position of the beta globin chain of the haemoglobin molecule. The substitution of
amino acid in the globin protein results due to the single base substitution at the sixth
codon of the beta globin gene fro m GAG to GUG. The mutant haemoglobin molecule
undergoes polymerisation under low oxygen tension causing the change in the shape of
the RBC from biconcave disc to elongated sickle like structure.

Courtesy- NCERT textbook

8
 SYMPTOMS OF SSA

Signs and symptoms of sickle cell anemia, which vary from person to person and
change over time, include:

•Anemia: Sickle cells break apart easily and die, leaving you without enough red
blood cells. Red blood cells usually live for

about 120 days before they need to be replaced. But sickle cells usually die in 10 to
20 days, leaving a shortage of red blood cells (anemia).

Without enough red blood cells, your body can't get the oxygen it needs to feel
energized, causing fatigue.

•Episodes of pain: Periodic episodes of pain, called crises, are a major symptom of
sickle cell anemia. Pain develops when sickle-

shaped red blood cells block blood flow through tiny blood vessels to your chest,
abdomen and joints. Pain can also occur in your bones.

The pain varies in intensity and can last for a few hours to a few

weeks. Some people have only a few pain episodes. Others have a dozen or more
crises a year. If a crisis is severe enough, you might need to be hospitalized.

Some adolescents and adults with sickle cell anemia also have chronic pain, which
can result from bone and joint damage, ulcers and other causes.

9
 •Painful swelling of hands and feet. The swelling is caused by sickle-shaped red
blood cells blocking blood flow to the hands and feet.

•Frequent infections. Sickle cells can damage an organ that fights infection (spleen),
leaving you more vulnerable to infections. Doctors commonly give infants and
children with sickle cell anemia vaccinations and antibiotics to prevent potentially
life-threatening infections, such as pneumonia.
•Delayed growth: Red blood cells provide your body with the oxygen and nutrients you
need for growth. A shortage of healthy red blood cells can slow growth in infants and
children and delay puberty in teenagers.

•Vision problems:Tiny blood vessels that supply your eyes may become plugged
with sickle cells. This can damage the retina — the portion of the eye that processes
visual images, leading to vision problems.

WHAT CONDITIONS PROMOTE DISTORTION OF RED BLOOD CELLS?

Sickling of the red blood cells in patients with sickle cell anemia results in cells of
abnormal shape and diminished flexibility. The sickling is promoted by conditions
associated with low oxygen levels, increased acidity, or low volume (dehydration) of the
blood. These conditions can occur because of injury to the body's tissues, dehydration
, or anesthesia.

Certain organs are predisposed to lower oxygen levels or acidity, such as when blood
moves slowly through the spleen, liver, or kidney. In addition, organs with particularly
high metabolism rates (such as the brain, muscles, and the placenta in a pregnant
woman with sickle cell anemia) promote sickling by extracting more oxygen from the
blood. These conditions make these organs susceptible to injury from sickle cell
anemia.

10
IS THERE A DIFFERENCE BETWEEN SICKLE CELL ANAEMIA AND
SICKLE CELL TRAIT?

Yes. A person can have a mixture of normal and faulty haemoglobin in their red blood
cells without having sickle cell disease. This condition is called "sickle cell trait." People
with sickle cell trait have enough normal haemoglobin in their red blood cells to prevent
the cells from sickling. One in 12 African-Americans in the United States has sickle cell
trait.

It's important to remember that people with sickle cell trait do not have sickle cell
disease. They also usually do not develop sickle cell disease, except in unusual
circumstances. However, people with sickle cell trait can genetically pass the trait to
their children. If two people with sickle cell trait have children together, there is a 1 in 4
chance that their children will have sickle cell anaemia.

What are the chances that your child will be born with sickle cell anaemia or sickle
cell trait?

If you and your partner both have sickle cell trait, your child has a 25% chance of being
born with sickle cell anaemia. If only one of you has sickle cell trait, your child cannot
be born with sickle cell anaemia, but there is a 50% chance that your child will be born
with sickle cell trait.

If one parent has sickle cell disease and one parent has sickle cell trait, there is a 50%
chance that their children will be born with sickle cell disease.

11
How does a person get sickle cell anaemia?

People with sickle cell anaemia inherit the disease, which means that the disease is
passed on to them by their parents as part of their genetic makeup. Parents cannot give
sickle cell anaemia to their children unless they both have the faulty haemoglobin in
their red blood cells.

HOW IS SICKLE CELL CRISIS TREATED?

A sickle crises condition is a period when the sickled-cells block the flow of blood and
stick to the vessel walls, hence causing unbearable pain in different intensities. A few
times, the pain only lasts for a few hours and subsides on its own. But many a time, the
intensity of the pain increases gradually and a medical admission is the only thing
which can help. At the hospital, all they do is give enough fluids. And at a regular basis,
keep injecting pain killers and antibiotics. The Hgb is also looked after because the
haemoglobin percentage drops at a very high rate during a crises .So, a couple of
patients require blood transfusions too. Other than these, the patient is asked to be
cautious with the food and maintain a healthy diet during the stay in the hospital and
later. Fatigue is a common symptom in persons with sickle cell anemia. Sickle cell
anemia causes a chronic form of anemia, which can lead to fatigue. The sickled red
blood cells are prone to breakage (hemolysis) which causes reduced red blood cell life
span (the normal life span of a red blood cell is 120 days). These sickled red blood cells
are easily detected with a microscope examination of a smear of blood on a glass slide.

Typically, the site of red blood cell production (bone marrow) works overtime to
produce these cells rapidly, attempting to compensate for their destruction in the
circulation. Occasionally, the bone marrow suddenly stops producing the red blood
cells, which causes a very severe form of anemia (aplastic crises). Aplastic crises can
be promoted by infections that otherwise would seem less significant, including
viruses of the stomach and bowels and the flu (influenza).

Sickle cell anemia tends to stabilize without specific treatments. The degree of anemia
is defined by measurement of the blood hemoglobin level. Hemoglobin is the protein
molecule in red blood cells that carries oxygen from the lungs to the body's tissues and
returns carbon dioxide from the tissues to the lungs. Blood hemoglobin levels in
persons with sickle cell anemia are generally between 6 to 8 gms/dl (normal levels are
above 11 gms/dl). Occasionally, there can be a severe drop in hemoglobin requiring a
blood transfusion to correct the anemia (such as in patients suffering splenic
sequestration). Blood transfusion is usually reserved for those patients with other

12
complications, including pneumonia, lung infarction, stroke, severe leg ulceration, or
late pregnancy. (Among the risks of blood transfusion are hepatitis, infection, immune
reaction, and injury to body tissues from iron overload.) Transfusions are also given to
patients to prepare them for surgical procedures. Folic acid is given as a supplement.
Sometimes a red blood cell exchange is performed. This process removes some of the
sickle blood cells and replaces them with normal (non-sickle) blood cells. It is done
when the sickle cell crisis is so severe that other forms of treatment are not helping.

Pain crises

Pain crises in persons with sickle cell anemia are intermittent painful episodes that are
the result of inadequate blood supply to body tissues. The impaired circulation is
caused by the blockage of various blood vessels from the sickling of red blood cells.
The sickled red blood cells slow or completely impede the normal flow of blood
through the tissues. This leads to excruciating pain, often requiring hospitalization and
opiate medication for relief. The pain typically is throbbing and can change its location
from one body area to another. Bones are frequently affected. Pain in the abdomen
with tenderness is common and can mimic appendicitis. Fever frequently is associated
with the pain crises.

A pain crisis can be promoted by preceding dehydration, infection, injury, cold

exposure, emotional stress, or strenuous exercise. As a prevention measure, persons
with sickle cell anemia should avoid extremes of heat and cold.

Pain crises require analgesia for pain and increased fluid intake. Dehydration must be
prevented to avoid further injury to the tissues and intravenous fluids can be necessary.
Other modalities, such as biofeedback, self-hypnosis, and/or electrical nerve
stimulation may be helpful.

Hydroxyurea is a medication that is currently being used in adults and children with
severe pain from sickle cell anemia. It is also considered for those with recurrent
strokes and frequent transfusions. This drug acts by increasing the amount of fetal
hemoglobin in the blood (this form of hemoglobin is resistant to sickling of the red
blood cells). The response to hydroxyurea is variable and unpredictable from patient to
patient. Hydroxyurea can be suppressive to the bone marrow.

13
WHAT IS THE OUTLOOK FOR SICKLE CELL ANAEMIA?CAN IT BE
CURED?

The life expectancy of persons with sickle cell anemia is reduced. Some patients,
however, can remain without symptoms for years, while others do not survive infancy or
early childhood. Nevertheless, with optimal management patients can now survive
beyond the fourth decade.

Most patients suffer intermittent pain crises, fatigue, bacterial infections, and
progressive tissue and organ damage. Impaired growth and development is the result of
the physical and emotional trauma that is endured by children with sickle cell anemia.

Causes of death include bacterial infection (the most common cause), stroke or
bleeding into the brain, and kidney, heart, or liver failure. The risk of bacterial infections
does diminish after three years of age. Nevertheless, bacterial infections are the most
common cause of death at any age. Therefore, any signs of infection in a person with
sickle cell anemia must be reviewed with a doctor to prevent damage and save lives.

Interestingly, the sickle cell gene somewhat protects against malaria infection. This
makes those with sickle cell trait (gene carriers) at least partially resistant to malaria.
Furthermore, the geographic distribution of the sickle cell gene is similar to that of
malaria infection. Sickle cell anemia is a lethal condition that threatens life. However,
there may be a selective advantage to being a sickle cell carrier (trait) if the person
resides in an area of the world where malaria is very common. The advantage a person
with sickle cell trait has over a non-carrier of the gene may explain why sickle cell
anemia did not disappear from the world even though it is lethal.

The sickle cell gene is not a "black gene." It just happens to disproportionately occur in
the black population. When a black person who carries a sickle cell gene has children
with a non-black person, the children may inherit the sickle cell gene regardless of
race. There are also people of all races who carry the sickle cell gene.

Recent research is examining further ways to promote the development of the fetal
hemoglobin that delays the development of sickle cell in the newborn . Bone marrow
transplantation is being used for patients with severe sickle cell anemia who have a

14
sibling donor. Future treatments may involve genetic engineering where cures might be
achieved.

Finally, genetic counseling can be helpful for parents and families to prevent sickle cell
anemia. Sickle cell anemia is an inherited illness. Both parents must be carriers of the
sickle cell gene for a child to be affected with sickle cell anemia. If each parent is a
carrier, any child has a one chance in two (50%) of also being a carrier and a one in four
(25%) chance of inheriting both genes from the parents and being affected with sickle
cell anemia.

CONCLUSION
Working on this research-based-project, we learnt about the genetic disorder Sickle
cell Anaemia. We learnt how difficult life becomes for a diseased individual, and the
ordeals of living with it. The signs and symptoms were studied. Apart from all that, we
also came across Bone marrow transplantation- what it is; and how it cures the
disease. We would like to conclude that by working on this project, we understood
genetic diseases better and how the medicine field needs something soon to cure
this and help mankind.

15
Bibliography
1. www.google.com
2. www.wikipedia.com

16