Thalassemia is an inherited blood disorder characterized by less oxygen-carrying haemoglobin and fewer red blood cells. It is caused by genetic mutations that affect haemoglobin synthesis. Common symptoms include fatigue, weakness, and pale skin. Treatment involves frequent blood transfusions, chelation therapy to remove excess iron, and possibly stem cell transplants. The project describes the history, signs, and treatment of thalassemia with a case study example. It aims to increase understanding of this genetic blood disorder.

1. JPV DAV PUBLIC SCHOOL
KATNI, MADHYA PRADESH-483501
Biology Investigatory Project
THALASSEMIA
1
SUBMITTED BY-
NAME- AMITA RANJAN
CLASS- XII SCIENCE(BIOLOGY)
ROLL NO.-

2. 22
S.NO. CONTENT PAGE NO.
1 INTRODUCTION 6
2 HISTORY 7
3 HAEMOGLOBIN STRUCTURE 10
4 SIGNS AND SYMPTOMS 12
5 PREVALENCE 13
6 TREATMENT 14
7 CASE STUDY 15
8 CONCLUSION 17
INDEX

3. Certificate
3
This is to certify that this “Biology
Investigatory Project” on the topic “Thalassemia” has been
successfully completed by
Amita Ranjan of class XII – Science under the
guidance of Mrs. Reena Khatri in particular
fulfilment of the curriculum of Central
Board of Secondary Education (CBSE) leading
to the award of annual examination of the year
2020-21
3
Teacher-In-Charge External Examiner

4. ● I have taken efforts in this project. However, it would not have been possible without the
kind support and help of many individuals.
● I would like to thank my principal Mr. S.K. Sinha and school for providing me with facilities
required to do my project.
● I am highly indebted to my Biology teacher, Mrs. Reena Khatri , for her invaluable guidance
which has sustained my efforts in all the stages of this project work.
● I would also like to thank my parents for their continuous support and encouragement.
● My thanks and appreciations also go to my fellow classmates and the laboratory assistant in
developing the project and to the people who have willingly helped me out with their abilities.
4
Acknowledgements

5. 5
THALASSEMIA
5

6. 6
It is an inherited disease which is mainly caused due to the
abnormal haemoglobin synthesis. It is transferred by one of the
parents who is a carrier of this disease due to either deletion of
particular key gene fragments or a genetic mutation.
INTRODUCTION
6

7. Summary
Subtitle lorem ipsum dolor sit amet, consectetur
adipiscing elit.
● Thalassemia is an inherited blood disorder characterised by less
oxygen-carrying protein (haemoglobin) and fewer red blood cells in
the body than normal.
7
7

8. HISTORY
● Alpha Thalassemia Minor and Beta Thalassemia Minor, also known
as alpha thalassemia trait or beta thalassemia trait, are common
conditions in many demographics.
● Beta Thalassemia Major was first described in the medical literature in
1925 by an American physician named Thomas Cooley. And hence the
name Beta thalassemia major is also known as Cooley's anemia.
● Alpha Thalassemias occur most often in people from Southeast Asia, the
Middle East, China, and in those of African descent.
● Beta Thalassemias occur most often in people of Mediterranean origin.
To a lesser extent, Chinese, other Asians, and African Americans can be
affected.
● In 1938 Mukerjee published “the first recorded case of thalassemia on
east side of Suez”. The case was observed by Dr M. Bose of the Campbell
Medical School & Hospital, Calcutta (now Kolkata) in a Hindu boy aged 30
months.
● Whiple and Bradford first proposed the name Thalassemia.
8
8

9. Comparison
Compare A
● Lorem ipsum Nulla a erat eget nunc
hendre
Compare B
● Lorem ipsum Nulla a erat eget nunc
hendrerit ultrices eu nec nulla. Donec
viverra leo aliquet, auctor quam id,
convallis orci.
○ Sed in molestie est. Cras ornare turpis at
ligula posuere, sit amet accumsan neque
lobortis.
○ Maecenas mattis risus ligula, sed
ullamcorper nunc efficitur sed.
9
9

10. 10
HAEMOGLOBIN
STRUCTURE
10

11. Data A Data B Data C
11
TYPES OF THALASSEMIA
11

12. SIGNS AND SYMPTOMS
Thalassemia signs and
symptoms can include:
● Fatigue
● Weakness
● Pale or yellowish skin
● Facial bone deformities
● Slow growth
● Abdominal swelling
● Dark urine
● Enlarged spleen 12
12

13. Prevalence
• The alpha thalassemia is prevalent in
southeast Asia,Malaysia and southern china.
• The beta thalassemia are seen primarily in the area
surrounding Mediterranean sea, Africa and Asia.
• Carrier frequency of thalassemia in India is about 3 %
and estimated frequency of thalassemia at birth is
1:2700.
• In India β thalassemia is frequent and α thalassemia is
rare.
• β thalassemia is more common in certain communities
such as Sindhis, Punjabis, Bengalis, Gujratis, Parsis,
Bhansalis , Jain and Lohanas.
•Thalassemia is prevalent in those parts of world where malaria has been common.
13

14. 14
TREATMENT
● Frequent blood transfusions : More severe forms of
thalassemia often require frequent blood
transfusions, possibly every few weeks.
● Chelation therapy : This is treatment to remove
excess iron from your blood.
● Stem cell transplant : Also called a bone marrow
transplant, a stem cell transplant might be an
option in some cases. For children with
severe thalassemia, it can eliminate the need
for lifelong blood transfusions and drugs to
control iron overload.
● Gene Therapy : Bluebird Bio has been granted the
go-ahead to market its gene therapy for the
blood disorder β-thalassemia. Zynteglo
gained conditional market approval from the
European Commission to treat transfusion-
dependent β-thalassemia in patients 12 years 14

15. 15
● A 36-year-old man who had been diagnosed with β-thalassaemia intermedia 20 years
ago was admitted to the internal medicine department due to progressive exercise
dyspnoea, orthopnoea and oedema in the lower extremity.
● In his history, it was found that he underwent splenectomy due to hypersplenism
6 years ago and was not regularly attending control visits.Blood pressure was found
to be 100/70 mm Hg. He had a regular pulse with a rate of 110 bpm.
● There was venous distention of the neck. It was found that the breathing sound was
weaker at the basal region with fine crackles, as the finding of weaker breathing
sounds was more prominent on the left side.
● On cardiovascular examination, there was a grade II/III pansystolic murmur at the
lower left parasternal area. On abdominal examination, there was a surgical scar at
the left-upper quadrant and hepatomegaly that could be palpated.
CASE STUDY

16. Transesophageal Echocardiography
16
Before Treatment After Continued
Treatment

17. ● Treatment- A regular transfusion programme was scheduled and chelator therapy was
initiated. A diuretic was given for symptoms of heart failure. Anticoagulant therapy was
initiated by taking systemic embolism findings into account. The patient achieved clinical
improvement and he was discharged by the recommendation of control visits.
● Currently, the patient has an uneventful course at month 6 after discharge. His functional
class was improved. A control transthoracic and transesophageal echocardiography showed
a decrease in the size of thrombi in the left and right atria.
● Patients with thalassaemia primarily die due to heart failure. The main causes of heart
failure include hemosiderosis and chronic anaemia as well as chronic pulmonary
thromboembolism. In the present case, the patient's heart failure is evident from the clinical
basal creps due to diastolic dysfunction. It is known that pulmonary thromboembolism and
hypertension are more frequently observed in patients with thalassaemia, particularly in
those with thalassaemia intermedia.Haemolysis, the resultant impairment in arginine
metabolism and endothelial dysfunction is reported to be the most important causes of
pulmonary hypertension. 17
CONCLUSION

18. Bibliography
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4069792/
https://www.mayoclinic.org/diseases-conditions/thalassemia/diagnosis-treatment/drc-20355001
https://www.webmd.com/a-to-z-guides/what-is-thalassemia#2-4
https://www.nature.com/articles/d41587-019-00026-3
https://www.centerfornurses.com/beta-thalassemia/what-is-beta-thalassemia/b-thalassemia-
epidemiology/
18