BIOLOGY INVESTIGATORY PROJECT

STUDY ON
THALASSEMIA

SUBMITTED BY: GUIDED BY:

NAME – Abhishek Sahoo - Mrs. Rameswari Sahoo
CLASS – XII B - Ms. Manisha Panda
CBSE ROLL NUMBER - - Mrs. Padmalaya Sahu

MOTHERS’S PUBLIC SCHOOL

Unit-1, Bapuji Nagar, Bhubaneswar
AISSCE 2020/21
 BONAFIDE
CERTIFICATE
This is to certify that Abhishek
Sahoo, student of class XII B, with
Roll No. has completed
the project in Biology on “Study
and survey on Thalassemia” in
partial fulfilment of requirement
of AIISCE as prescribed by CBSE
in the year 2020-21.
This work was carried by him
under our guidance.

Principal’s Signature Teacher’s Signature

 CERTIFICATE
I, Abhishek Sahoo, a student of
class XII Science bearing board
Roll No. of Mother’s
Public School, Unit-I,
Bhubaneswar, hereby certify
that this project was undertaken
by me as a part of the CBSE
curriculum. The data used in the
project has been collected by me
from the sources mentioned in the
bibliography and, therefore, I
consider it to be authentic and
reliable.

Teacher’s Signature Student’s Signature

ACKNOWLEDGEMENT
We would like to express our gratitude to Mrs.
Rameswari, our Biology teacher for guiding us through the
project. We would also thank Mr. Samir Patra for helping
us understand the genetics behind the disease
Thalassemia. We also appreciate the contribution and
support of our parents, elders, sibling, to make the project
errorless.

We also express deepest of our gratitude towards Dr. M

Khan, for answering our questions and helping us with the
survey and provide us vast amount of knowledge and
great sum of data to understand the disease properly.
We also thank, Mrs. Mamta, a thalassemia patient, who
agreed to answer our questions.

We thus thank each and every one who helped us in the

project in some or the other way. They all equally
contributed in successfully completing the project and
enabled us to form our opinion on the matter

Student’s Signature
 INTRODUCTION
Thalassemia is a genetic disorder or disease which causes irregularities
in hemoglobin complex found on RBC’s which are responsible for
transportation of oxygen in the body. Thalassemia comes under the
hemoglobinopathy group of RBC disorders, i.e., genetic and inheritable.
Around 5 lakh cases being added every year in India, out of which
10,000 cases are its severe form, Thalassemia Major. Around 40 million
thalassemia patients are estimated to be there in nation and over 1 lakh
patients across the country die before they turn 20 due to thalassemia.
The first case of thalassemia in India was reported in 1938. Patient may
show mild or severe anemia or even no symptoms. It can even cause
death in foetal stage. Depending on the genes affected, thalassemia
can be of several types.
Depending upon the type of disease there can be different symptoms
which maybe mild or severe, in some cases the symptoms may not even
show up. Some babies show sign and symptoms of thalassemia at birth,
some develop them during the early years (2-3 years) and in some cases
where there are no signs of the disease and the individual may only get
to know about this genetic disorder by a blood test. The major
recognizable symptoms which babies show are anemia, fatigue,
weakness, pale or yellow skin, facial bone deformities, slow growth,
abdominal swelling and dark urine. In severe cases major complications
may occur such as iron overload, infections, enlarged spleen, heart
problems etc.
This genetic disease is primarily due to mutations or deletion of genes
required for the formation of a very necessary protein known as
haemoglobin (Hb). Haemoglobin is an iron containing tertiary protein
present in red blood cell (RBCs), which bind to oxygen molecules, thus
playing a primary role in oxygen transportation. It is a quaternary
structure having four sub units. The genes for these sub-units are present
on chromosome 16 and chromosome 11. Deletion of any of the genes
alter the structure of haemoglobin thus rendering them unable to
perform their function properly. Depending on the type of gene that
gets mutated in a particular case it can be termed as alpha thalassemia
or beta-thalassemia. Due to this our body gets less oxygen, thus various
symptoms like anemia, fatigue, paleness start showing up. Also, it has
been observed that people who have their origins in African,
Mediterranean or Asian or who have anyone in their pedigree from
these regions tend to be more vulnerable to this disease due to some of
its evolutionary importance.
If a child shows symptoms of thalassemia, it is confirmed by complete
blood test (CBT). This reveals the number of red blood cells (RBC count)
and abnormality in size, shape or colour. Blood test can also be used
for DNA analysis to look for mutated genes and know the type of
thalassemia. Testing can be done before a baby is born to find out if
he or she has thalassemia or how severe it might be. This type of testing
is called parental testing. This includes Chorionic Villus sampling and
Amniocentesis.
Mild forms of thalassemia don’t need any treatment. For moderate
thalassemia, frequent blood transfusion may be required lifelong to
maintain the RBC count in the blood. Chelation therapy may be needed
to remove the excess iron from blood developed due to blood
transfusion or otherwise normal thalassemia. In some severe cases Stem
transplantation is done.
Various governmental and non-governmental organizations like
National thalassemia welfare society (NTPS) have been established in
India to create awareness among the public. Major thalassemia
hospitals are also there in India. The Govt. of India provides facility for
all pregnant women new born babies to undergo thalassemia test.
Odisha govt. has also announced a help of 500 rupees for thalassemia
patients in the state.
 INDEX
SL.
NO. TOPIC PAGE
NO.
1. Aim of Project 1
2. Requirements 2
3. Theory 3
4. Procedure 15
5. Observations 16
and Analysis
7. Photo Gallery 24
8. Conclusions 27
9. Bibliography 28
 AIM
OF PROJECT
The aim of this project was to
spread awareness about
thalassemia, its symptoms,
diagnosis, treatment, etc.
through accurate and detailed
research and survey and
interactions with patients.

1
REQUIREMENTS
- NCERT Biology book for class 12.
- Stable Internet connection for online
research.
- The Principle of Genetics by Eldon John
Gardener and Michael J. Simmons.
- Microsoft Word
- Journal of Medical Science and Clinical
Research [vol-5, issue10]
- Spectrum of haemoglobinopathies in
Odisha – an institutional study for CE-HPLC
thalassemia.
- Articles and Reports on thalassemia from
newspaper (for e.g. thalassemia report –
the Hindu).

2
THEORY
9999999999999999999999999999999999999999999999999999999996

WHAT IS THALASSEMIA?
Thalassemia is an inherited blood disorder in which
the body makes an abnormal form of haemoglobin,
a protein that binds with oxygen to carry it to all the
cells of the body, by causing changes to the globin
proteins of haemoglobin.
This disorder results in abnormality in the shape of RBCs, resulting in
formation of large number of abnormal RBCs which are unable to provide
enough oxygen for the cells of the body which cause a person to feel tired,
weak or short of breath.
Though symptoms of Thalassemia and Anemia are similar, there is a lot of
difference between them.
DIFFERENCE BETWWEN THALASSEMIA AND ANAEMIA.

THALASSEMIA
Thalassemia is hereditary.
Microcytosis is usually very
severe.
Basophilic Stippling of red
blood cell is common.
Does not respond to Iron
therapy.
ANAEMIA
Iron –deficient Anaemia is not
hereditary.
Microcytosis is mild or absent.
Less frequent Basophilic
Stippling of red blood cells.
Does respond to Iron therapy.

HISTORY OF THALASSEMIA
Thalassemia was first named as “Mediterranean anaemia” as it was first
described in the people of Mediterranean ethnicities. It was later renamed
to “Thalassemia Major” once the genetics was better understood.
While Dr. Thomas Cooley was treating the anaemia in early 1925 he
observed a very different symptoms wired as Cooley’s anaemia. In
contrast with DV M Bose traced similar symptoms in a 30-month-old Hindu
Bengali boy. This stripped away the concept of Mediterranean fever from

3
Thalassemia. Consequently, thalassemia was observed in Mumbai,
Delhi and other cities. At the same time Dr. JB Chatterjee et al [1]
observed special thalassemia in India. A centre of care of thalassemia
was established in mid 1970s in Mumbai, Delhi, etc., within the help of
International Thalassemia Federation to address the health care. Care
of thalassemia has been included in the 12th – 5-year plan of the Govt.
Of India.

PATHOPHYSIOLOGY
RBCs (Red Blood Cells) carry oxygen to different body cells. They do
this with the help of a complex structure, known as Haemoglobin, which
binds with oxygen molecule. A Haemoglobin consists of a haem and 4
globin proteins.
These globin proteins are formed as per the genetic information stored
in our genes. Any mutation or deletion in these genes responsible for
formation of these proteins can result in irregularity in the shape of
haemoglobin and thus RBCs, resulting in ineffective transport of
oxygen. This genetic disorder is Thalassemia.
Depending upon the chromosome from which the gene is being deleted,
thalassemia can be of 2 types:
α – THALASSEMIA
The genes, that are responsible for the formation of the α – globin
protein of the haemoglobin, are present on chromosome number 16.
They are 4 in number (2 on each chromosome, HBA1 and HBA2).
Mutation or deletion caused to any of these genes causes
α – thalassemia. The mutated gene is autosomal recessive in nature,
i.e., it is expressed only if it is 2 or more in number.
Depending the number of genes mutated, α – thalassemia is of 4
types:
If only 1 gene is mutated: The mutated gene being autosomal
recessive in nature, is not expressed. However, the person acts as
a silent carrier, i.e., he/she doesn’t show any symptoms but can
pass on the mutated gene to the future generation.

4
α – THALASSEMIA MINOR: α – thalassemia minor is caused if 2
genes are deleted. These 2 genes can be deleted
from either of the homologous chromosome, or, one
from each. If 2 genes are deleted from either of the
homologous chromosome, it is called as Cis-α-
thalassemia minor. If gene is deleted one from each
chromosome, it is called Trans-α-thalassemia minor.
Cis-α-thalassemia minor is common among the Asians,
while Trans-α-thalassemia minor is common among
the Africans.

α – THALASSEMIA INTERMIDIATE: If 3 genes are deleted, it is

called α-thalassemia intermediate or moderate. It is also called
as Haemoglobin H (HbH) disease. This caused by excess β chains,
which clump together within a developing RBCs resulting in a
tetramer (β4) and give rise to a form of haemoglobin called
Haemoglobin H. HbH molecules cause Hypoxia in 2 ways. First,
they damage the Red Blood Cell membrane resulting in
Intermedullary Haemolysis (Red Blood Cells breakdown in the
bone marrow), or, Extravascular Haemolysis (when RBCs are
destroyed by macrophage cells in the spleen). Second, HbH
molecule has high affinity for oxygen and doesn’t release
oxygen to the tissues. A consequence of Hypoxia is that is signals
the bone marrow and extramedullary tissues like Liver and
Spleen, to increase production of RBCs. This can cause bone that
contain bone marrow as well as the Liver and Spleen, to enlarge.
α – THALASSEMIA MAJOR: When 4 genes are deleted, it results
in HbF Bart’s Hydrops Fetalis. The problem arises in
foetal life when 𝛾-chains form tetramer in absence
of α-chains. The structure is called Hb Bart’s (𝛾4)
and very high affinity for oxygen (about 100 times
that of normal Haemoglobin), so the tissues get no
oxygen, resulting in severe hypoxia. Severe
Hypoxia lead to cardiac failure and massive
Hepatosplenomegaly resulting in oedema all over
the body, called “Hydrops Fetalis”. This condition is
incompatible with life and without treatment the
foetus usually dies in the womb or soon after birth.

5
 β – THALASSEMIA
The beta thalassemia is a condition where the formation of β globin
for the haemoglobin is hampered. It is caused due to mutations in
the genes instead of deletion as seen in the case of α-thalassemia.
The genes which are responsible for the formation of the β-globin
protein of the haemoglobin, are present on chromosome number 11.
There are two alleles for the HBB gene which
has the genetic information for synthesis of
beta globin. With beta thalassemia, there
either a partial or complete β-chain
deficiency due to point mutation, which is
when a single nucleotide of the DNA is
replaced by another nucleotide, in the β-
globin gene present on chromosome number
11.
Most often, these mutations occurring two
regions of the gene called promoter
sequences and splice sites, which affects the
way the mRNA is read. The result is reduced
(β+) or completely absent (β0) β-globin chain
synthesis.
In β+ type, the β globulin production is reduced but not completely
stopped but in case of β0 the production totally restricted. In these
cases, due to lack of beta globin the alpha globin pair with
themselves and this has an adverse effect on the RBC count. This
phenomenon has many more problems which is discussed under beta
thalassemia major. And since it is autosomal recessive, 2 mutated
copies of the gene are needed to develop the disease
Based on the various combination of the alleles the beta thalassemia
can be categorised into following types: -

6
 β – THALASSEMIA MINOR: It is the mildest form of beta
thalassemia. Here the geneticthalassemia
combination is heterozygous and
the possible combinations can be β+β /β0β. Here as one normal
allele is present so the effects are not that expressed and the
affected individual can more or less lead a normal life. Persons
with beta thalassemia minor may have mild microcytic anaemia,
which is often mistaken as anaemia due to iron deficiency, but
they have normal iron content. Generally, no treatment is required
for this type. It is also called beta thalassemia trait as the affected
has the thalassemia trait which can be passed on to next
generation.
β – THALASSEMIA INTERMEDIA: It is the less severe form of
beta thalassemia. Here the genetic beta combination can be
homozygous or heterozygous and the possible combination can be
β+β+ /β0β+. Here both the alleles are mutant ones, thus the amount
of haemoglobin reduces significantly. Persons affected have
moderately severe anaemia and require regular blood
transfusion to maintain the RBC count in the blood.
β – THALASSEMIA MAJOR: This is the most severe and fatal
This is the most severe and fatal form of beta thalassemia. It is also
v
known as Mediterranean anaemia or Cooley anaemia. Most of the
deaths related to beta thalassemia occur in this type. Here the
genetic combination is homozygous and the combination is β0β0.
Here both the alleles have major mutations which leads to severe
shortage of beta globin. Thus, in order to make haemoglobin the
alpha globin bind among themselves in order to form a tetramer
(α4) which is insoluble, also the RBC produced are abnormal and
as they enter the spleen the abnormality causes the spleen to
destroy them thus the RBC count decreases which causes severe
anaemia. The brain senses this and sends signals to increase
erythropoiesis but that is useless as the produced red blood cells
get destroyed in spleen. This puts excessive pressure on bone
marrow and spleen and thus causes splenomegaly and severe
bone deformities. Extensive lifelong blood transfusion and even
bone marrow transplant may be required in some cases.

7
CAUSES
Thalassemia occurs when there’s an abnormality or mutation in one of
the genes involved in globin protein production. Haemoglobin has two
kinds of protein chains: α-globin and β-globin. These proteins in
combination with haem form a complex structure that binds with
oxygen and help RBCs transport and deliver oxygen to the cells.
Some specific genes store the genetic information for the formation of
these globin proteins. The HBB gene stores the information for
formation of β-globin, while the HBA1 and HBA2 genes provide
instructions for making α-globin. There are two copies of the
haemoglobin α gene (HBA1 and HBA2), which encode an α-chain,
and both genes are located on chromosome 16. The haemoglobin
beta gene (HBB) encodes the β-chain and is located on chromosome
11.
Changes (mutations) in the HBB gene lead to reduced levels of beta
globin and cause Beta Thalassemia. Loss (deletion) of some or all of
the HBA1 and/or HBA2 genes results in a shortage of alpha globin,
leading to Alpha Thalassemia. You inherit this genetic abnormality
from your parents.
If only one of the parents is a carrier for thalassemia, the offspring
may develop a form of the disease known as thalassemia minor. If
this occurs, he/she probably won’t have symptoms, but he/she will be
a carrier. Some people with thalassemia minor do develop minor
symptoms. If both of the parents are carriers of thalassemia, he/she
have a greater chance of inheriting a more serious form of the
disease.

8
SIGNS AND SYMPTOMS
Some of the common symptoms of thalassemia are:
Iron Overload
People with thalassemia can get an overload of iron in their bodies,
either from the disease itself or from frequent Blood Transfusions. Too
much iron can result in damage to the heart, liver and endocrine
system, which includes glands that produce hormones that regulate
processes throughout the body. Without adequate Iron Chelation
Theory almost all patients with beta-thalassemia accumulate
potentially fatal iron levels.
Infection
People with thalassemia have an increased chance of infection.
Enlarged spleen
The spleen aids in fighting infection and filters unwanted material, such
as old or damaged blood cells. Thalassemia is often accompanied by
the destruction of a large number of red blood cells and task of
removing these cells causes the spleen to enlarge.
Bone Deformities
Thalassemia can make the bone marrow expand, which causes bones
to widen. This can result in abnormal bone structure especially in face
and skull. It also increases the risk of broken bones.

However, symptoms of thalassemia vary according to the form and

type of thalassemia.
α - THALASSEMIA
a) Alpha thalassemia are silent carriers. They don’t show any
symptoms or they are asymptomatic.
b) Alpha thalassemia minor or Alpha thalassemia traits are: -
1. Mild Anaemia 2. Tiredness 3. Shortness of Breath
4. Feeling dizzy 5. Headache 6. Cold hands and feet
7. Pale Skin 8. Chest Pain

9
c) Alpha thalassemia intermediate or Haemoglobin H disease
1. Moderate to Severe Anaemia 2. Pale skin 3. Poor Appetite
4. Slowed growth and 5. Dark Urine 6. Jaundice
delayed puberty
7. Bone Deformities 8. Bone Enlarged spleen
d) Alpha thalassemia major or Haemoglobin Bart’s or hydrops fetalis
1. IN FOETUS: i. Excess of Amino Fluid.
ii. Thick or Abnormally long placenta.
2. IN NEWBORN: i. Pale skin and Bruising.
ii. Severe swelling especially in the abdomen.
3. Enlarged Liver and spleen 4. Difficulty in Breathing
5. Severe Jaundice
β - THALASSEMIA
a) Beta Thalassemia Minor: Mild anaemia

b) Beta Thalassemia Intermedia:

1. Jaundice 2. Gall Stone 3. Leg Ulcers
4. Mild to moderate anaemia 5. Born deformities
6. Enlarged spleen 7. Slowed growth rate

c) Beta Thalassemia Major:

1. Jaundice 2. Iron overload 3. Prone to infections

4. Severe anaemia 5. Headache 6. Born deformities

7. Enlarged spleen 8. Fatigue 9. Poor Appetite

10
DIAGNOSIS
Most children with moderate to severe Thalassemia show signs and
symptoms within their first two years of life. If your Doctor suspects
your child has Thalassemia, he or she can confirm a diagnosis with
blood tests.

Blood tests can reveal the number of red blood cells and
abnormalities in size, shape or colour. Blood tests can also be used
for DNA analysis to look for mutated genes.

Various blood tests used to diagnose thalassemia are:

1. Complete Blood count (CBC)
It includes measures of haemoglobin and the quantity (and size)
of red blood cells. People with thalassemia have fewer healthy
red blood cells and less haemoglobin than normal; those with
alpha or beta thalassemia trait may have smaller-than-normal red
blood cells.
2. Haemoglobin Electrophoresis HbH
HbA
HbF

HbA2

NORMAL THALASSEMIA

3. Genetic Testing is also used for the diagnosis of Thalassemia.

PRENATAL TESTING
Testing can be done before a baby is born to find out if he or she
has Thalassemia and determine how severe it might be. Tests used
to diagnose thalassemia in foetuses include:
CHORIOINIC VILLUS SAMPLING
Chorionic villus sampling (CVS) is an invasive diagnostic
procedure done in early pregnancy to obtain foetal cells for the
prenatal diagnosis of chromosomal and genetic disorders like
thalassemia. Usually done around the 11th week of pregnancy,
this test involves removing a tiny piece of the placenta for
evaluation.

11
 AMNIOCENTESIS
Amniocentesis is a medical procedure used primarily in prenatal
diagnosis of chromosomal abnormalities like thalassemia. Usually
done around the 16th week of pregnancy, this test involves
examining a sample of the fluid that surrounds the foetus.
TREATMENT
Mild forms of Thalassemia trait don't need treatment.

For moderate to severe Thalassemia, treatments might include:

Frequent Blood Transfusion
More severe forms of Thalassemia often require frequent blood
transfusions, possibly every few weeks. Blood Transfusion involves
injection of red blood cells through a vein to restore normal levels
of healthy red blood cells and haemoglobin. Patients with
thalassemia major will need between eight and twelve transfusions
a year. Those with less severe thalassemia will need up to eight
transfusions each year. Transfusions are repeated every 4 months
in patients with moderate or severe thalassemia, and every 2 to 4
weeks in patients with beta thalassemia major. Occasional
transfusions may be needed (for instance, during times of infection)
for beta thalassemia.

Over time, blood transfusions cause a build-up of iron in your

blood, which can damage your heart, liver and other organs.
Chelation Therapy
This is treatment to remove excess iron from your blood. A danger
with blood transfusions is that they can cause iron overload, which
may in turn cause damage to other organs. Because of this,
patients who receive frequent transfusions also require iron
chelation therapy, which can be given in pill form.

To help rid your body of the extra iron, you might need to take
an oral medication, such as deferasirox (Exjade, Jadenu) or
deferiprone (Ferriprox). Another drug, deferoxamine (Desferal), is
given by needle.

12
Stem Cell Transplant/ Bone Marrow Transplant
Bone marrow cells produce red and white blood cells,
haemoglobin, and platelets. A transplant from a compatible donor
may be an effective treatment, in severe cases. Compatible means
that the donor has the same types of proteins, called human
leukocyte antigens (HLA), on the surface of their cells as the person
who will be receiving the transplant. Bone marrow transplant from
a compatible brother or sister offers the best chance at a cure.
Most patients with thalassemia, however, lack a suitable sibling
donor.

A bone marrow transplant is done in the hospital. Within 1 month,

the transplanted bone marrow stem cells will start to make new,
healthy blood cells. Given the high risks of a bone marrow
transplant, it is not routinely recommended for those with mild or
moderate thalassemia.

Splenectomy
Splenectomy is the principal surgical procedure used for some
patients with thalassemia. Damaged or defective red blood cells
are normally eliminated in the spleen. In people with thalassemia
there is a large quantity of defective red blood cells which results
in an enlarged hyperfunctioning spleen (splenomegaly). Removal
of the spleen may thus prolong red blood cell survival by reducing
the amount of red blood cells removed from circulation and may
ultimately result in the reduced need for blood transfusions.

The use of splenectomy in thalassemia has declined in recent

years.

Gene Therapy
Scientists are investigating genetic techniques to treat thalassemia.
Possibilities include inserting a normal beta-globin gene into the
patient’s bone marrow, or using drugs to reactivate the genes that
produce fetal hemoglobin.

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GOVERNMENT INITIATIVES
Recently, the Union Health Ministry has initiated a project to
provide treatment to 200 children suffering from thalassaemia in
the current financial year with Coal India funding it. For this
purpose, the government has identified four hospitals across the
country where bone marrow transplant along with post-surgery
treatment will be carried out. The cost of the total procedure is Rs
10 lakh and it will be borne by Coal India, a health ministry official
said. The four institutions which have identified are Tata Medical
Centre in Kolkata, CMC Vellore, Rajiv Gandhi Cancer Institute &
Research Centre and AIIMS in New Delhi.
According to the officials, the project will benefit underprivileged
thalassaemia patients who have a matched sibling donor and are
therefore eligible for bone marrow transplantation but do not
have financial resources for the same, i.e., Only patients whose
monthly family income is below Rs 20,000 will be eligible for this
assistance.

Initially, the project has been initiated at four centres and

gradually it may be extended to six more centres so that the
waiting time for patients would be reduced. Each centre has
performed at least five bone marrow transplants in a year for
thalassaemia patients, as per the officials.

Govt. Has set up some eligibility criteria for providing service which
are discussed below:
[i] Age below 10 years.
[ii] Copy of the 100% HLA matched report (6/6).
[iii] Yearly income up to Rs. 5 lacs (USD 7813.00) with a copy of
the salary/ income certificate.

14
 PROCEDURE
The team for making the project on the given topic ‘THALASSEMIA’ was
formed on 3rd July 2020. Under the guidance of Rameshwari ma’am, we
started our work on the project on 9th July.
The workload was divided equally among the team members
- Saswat Dipta Rath [group representative] was given the work to
prepare a list of questions to be asked in survey, and write the
article on history and evolution of thalassemia and give the final
conclusion for the project
- Biswajit Rout was given the responsibility for designing and editing
the project and prepare article on the alpha thalassemia and
genetics behind thalassemia.
- Abhishek Sahoo was given the responsibility of preparing the
introduction and articles on genetics and beta thalassemia under
pathophysiology part.
- Arin Sahu was given the responsibility to prepare articles on
diagnosis, causes and treatment along with providing statistical
data.
- Deevyush Jhunjhunwala was given the work to write articles on
symptoms and complications
- Piyush was given the work to type the articles of history, evolution,
symptoms and prepare articles on government initiatives.
For surveys, Saswat went to Dr. M Khan and Biswajit questioned a
thalassemia patient, Mrs. Mamta
A total of 8 meetings were arranged on platforms like google meets on
15,17,19,21,22,25,27 and 28 July to discuss, check the progress of work
and review the articles for the group. Biswajit and Abhishek took charge
maintaining proper coordination among the members in the group.
The whole group did extensive research on the topics assigned to them
through Internet and contacted those who could help them to get proper
knowledge for three days (12-14 July).
All the inputs for the articles were taken from websites, blogs and
newspaper articles. The statistical data was collected from reliable
governmental websites and other sources. The final draft was prepared by
Biswajit.

15
OBSERVATION AND ANALYSIS
SURVEY
Survey consists of questionnaire with a doctor
(Dr. M Khan) and a patient, Mrs. Mamta.
QUESTIONNAIRE WITH DOCTOR

Q. What is the statistics of Thalassemia patients?

A. In Odisha it is around 18.2% that is predominantly from the
western side including areas of Angul, Sambalpur and Sundargarh.
In India, it is maximum in South, i.e. 37.2%.
Q. What are the initial and major symptoms for which one should
consult a doctor?
A. Swelling of the leg [Oedema]; Breathlessness; Fatigue;
Pale skin; Swelling of the spleen; Swelling of the forearms and neck
region [Chipmunk face] that is due to the overload of RBC formation
on bone marrow. Abnormal pains are some signs for which one should
consult a doctor.
Q. What is the lifespan of a thalassemia RBC?
A. It is nearly about 50 days for thalassemia whereas in Sickle Cell
Anaemia it is for 2 days.
Q. What are the advices given to the patients?
A. The patients having thalassemia who have undergone blood
transfusion are advised to live in a sterile or clean environment as the
immunity becomes very low and there are chances of getting infected
by other contagious diseases.
Q. What are the latest technologies that can be used in treatment?
A. Bone Marrow Transplantation and Blood Transfusion are the
techniques generally used. However, it can be also cured by Stem
Cell Recovery and Cord Cell Recovery [placental cell] which is under
research.

16
Q. What are the major tests for confirmation?
A. Electrophoresis, blood tests and genetic engineering are some of
the confirmatory tests.
Q. Can the Cord Cells be used for a child whose mother is also a
thalassemia carrier?
A. In general in such cases, Bone Marrow Transplantation is preferred
as there are chances of the failure of foetus if cord cells are used.
Q. Is it influenced by climatic condition, food habit and life style?
A. It can depend on them. As some time in the past, some such genetic
mutation or saltation [sudden mutation] must have occurred which
paved the way for the disorder. However, researches are still going
on.
Q. What is the trauma cares provided to the patients?
A. First of all, they are given saline to keep their body hydrated;
they are provided with oxygen supply as to subsidies the oxygen
requirement. If there is bone pain the pain killers are given and
Deferoxamine is given to reduce the iron overload. After these initial
treatments the patients comes to a normal stage and further
treatments can be done.
Q. Can it be treated by splenectomy?
A. Yes, as the life span of thalassemia is 50days. The spleen can be
removed for which the life span of the RBCs can be increased. Also,
it does not cause thrombosis which in case of Sickle Cell Anaemia
happens. So, Splenectomy is safe and is used for treatment.
Q. What are your views for the government programmes to tackle
the problem of Thalassemia?
A. These should be government initiatives where regular screening
must happen. Blood Test Camp should be established in region where
there are many Thalassemia patients. Pregnant women must undergo
Erythropoietic Electrophoresis which the tests the presence of
Thalassemia. Also, the Government of Odisha has taken many such
initiative as special ward is dedicated for the patients in SCB; AIIMS
BBSR and Capital Hospital.

17
 QUESTIONNAIRE WITH PATIENTS
Q. What were the symptoms that u felt after which concerned a
doctor?
A. Haemoglobin was continuously remaining on the lower side and
wasn’t increasing after getting iron injection. Low grade fever was
continuing for months together.
Q. What was the approach of doctor to treat you, i.e., what was his
approach to diagnose you?
A. He did few tests along with bone marrow biopsy.
Q. Were you given any kind of treatment or just medications? If
yes, what treatment was given?
A. Yes, the doctor just gave formic acid.
Q. Did the doctor suggest bone marrow transformation?
A. No
Q. Is anybody from your family is diagnosed with this disease?
A. No, there might be cases but ignored.
Q. How do you feel after a blood transfusion?
A. He didn’t advice for blood transfusion as it invites infection.
Q. You were diagnosed with disease in Bhubaneswar or another
part of Odisha?
A. It is a perennial problem, but was unidentified in Odisha. I had been
to different parts of Odisha. Yes, was in Bhubaneswar at that time.
Q. What medications do you take now?
A. Folic acid
Q. What benefit do you get from the Government programmes?
A. Government was not involved in the process.
Q. What are views the Government should provide to the patients?
A. Doctor should be more analytical and research oriented. The
government should send them for regular orientation programme and
encourage them for research on specific topics.

18
DATA
TABLE 1: Distribution of thalassemia patients according
to clinical severity.
TYPE OF THALASSEMIA PERCENTAGE
Thalassemia Major 93%
Thalassemia Intermedia 4%
Thalassemia Minor 2%
Total 100%

Thalassemia Statistics

2%
4%

Thalassemia
Major
Thalassemia
Intermedia
Thalassemia Minor
94%

19
 TABLE 2: Clinical Profile of Study population

CLINICAL FEATURES PERCENTAGE

Hepatomegaly 15%
Splenomegaly 90%
Anaemia 100%
Icterus 20%
Growth retardation 7%
BT-Requirement (1-2 units a month) 90%
BT-Requirement (>2 units a month) 10%
BT-Blood Transfusion

TABLE 3: Observed cases in 2018 in different types of

hemoglobinopathies cells.
HEMOGLOBINOPATHIES CELLS OBSERVED CASES (2018)
Sickle cell Trait 29.8
Sickle cell disease 7.5
Sickle cell beta thalassemia 1.7
Beta thalassemia trait 18.2
Thalassemia Major 5.3
Thalassemia intermedia 0.9
HbE trait 0.9
HbE disease 0.3
E-beta thalassemia 0.7
HbD trait 0.2
SD trait 0.2

20
 observed cases

sicle cell trait sicle cell disease sicle cell-beta thalassemia

beta thalassemia trait thalassemia major thalassemia intermedia
HbE trait HbE disease E-beta thalassemia
HbD trait SD trait

TABLE 3: Availability of Facilities

DISTRICT OF ODISHA THALASSEMIA WARDS BLOOD TRANSFUSION
Cuttack 8 15
Khorda 11 24
Puri 3 12
Jagatsinghpur 4 10
Balesore 3 14
Balangir 2 11

21
 AVAILABLE FACITIES
thalassemia wards blood tranfusion

25

20

15

10

0
cuttack khorda puri jagatsinghpur balasore balangir

TABLE 4: Comparison of Beta thalassemia carriers

across India.
PARTS OF INDIA FREQUENCY OF CARRIERS
ODISHA 18.2
DELHI 18.1
WESTERN INDIA 11.5
EASTERN INDIA 9.62
NORTH INDIA 8.9
SOUTH INDIA 37.9

COMPARISION OF BETA THALASSEMIA

CARRIERS
40

20

0
ODISHA DELHI WESTERN EASTERN NORTH SOUTH
INDIA INDIA INDIA INDIA

FREQUENCY OF BETA THALASSEMIA CARRIERS

22
 TABLE 5: Cases Recorded in Different Regions of
Odisha
PARTS OF ODISHA PERCENTAGE OF CASES
NORTHERN 48%
SOUTHERN 34%
WESTERN 18%

Cases recorded

18%

48% northern Odisha

southern Odisha
34%
western Odisha

23
PHOTO
GALLERY
SASWAT DIPTA
RATH
(Representative)

ABHISHEK SAHOO

BISWAJIT ROUT

24
DEEVYUSH
JHUNJHUNWALA

ARIN SAHOO

PIYUSH RANJAN
PATRA

25
We used the
Google meet as a
platform to hold
meeting to the
discuss and check
the progress of
the project

Saswat contacted
with Dr. M Khan
for the survey

26
 CONCLUSION
Thalassemia is an autosomal genetic disorder. It can have very
hazardous symptoms and it can also be normal and one can live
with it for entire life. Generally, there are two types of thalassemia,
i.e. Alpha thalassemia and Beta thalassemia. Thalassemia can also
be classified to minor, intermediate and major. In any case of minor,
the person feels no difficulties. However, in case of intermediate
and major, the patient needs medical treatment. However, these are
not intermediate. The common symptoms that a person feels are
weakness, chipmunk face, swelling of leg, bone parts etc. On facing
these problems, one should go through a check-up and consult a
doctor. Thalassemia has some evolutionary value as the person with
thalassemia minor does not get infected by malaria. The common
methods of treatment are Blood Transfusions, Bone Marrow
transplant, splenectomy, etc. As the life time of a thalassemia blood
is 50 days so if the spleen is removed then the life span can increase.
Some researches are still going on this field to cure this disease
permanently using genetic engineering, i.e. Cord Cell (placental
cell) and Stem Cells.
In India, maximum thalassemia patients are found in South India
(~32%). In Odisha, maximum patients are found in the certain
Odisha region (i.e. Angul, Sambalpur- nearly about 15.2%).
Government has taken many steps to provide the patients with
medical help. In Odisha, the Government provides Rs 500 to the
patients every month and there are special wards dedicated for the
patients in Capital Hospital and SCB.
However, Thalassemia is still a major issue and the advancement in
medical science and the initiatives taken by the Government are
trying to overcome it.

27
 BIBLIOGRAPHY
The research and survey of this project “Study of Thalassemia” were
conducted based on these following sources-
1.NCERT Biology textbook
2.www.wikipedia.org
3.www.thalassemia.com
4.www.kidshealth.org
5.www.healthline.com
6.Spectrum of hemoglobinopathies in Odisha-an institutional study by
CE-HPLC (research article)
7.Journal of medical Science and Clinical Research Vol-5, Issue-10
8.www.medicalnewstoday.com
9.www.thalassemiaindia.com
10.Official website of national thalassemia welfare society
11.Burden of thalassemia in India: the road map for control-Science
(Research article)
12.www.mayoclinic.org
13.Thalassemia report – The Hindu
14.www.ncbi.nlm.nih.gov

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