This presentation provides an overview of thalassemia, including what it is, its types and symptoms, diagnosis, and treatment options. Thalassemia is a blood disorder where the body does not produce enough hemoglobin or red blood cells, causing anemia. There are two main types: alpha thalassemia affects alpha chain production and beta thalassemia affects beta chain production. Symptoms include fatigue, jaundice, and skeletal deformities. Diagnosis involves blood tests and genetic testing. Treatment may include regular blood transfusions to manage anemia, iron chelation therapy to remove excess iron, and in some cases bone marrow transplants.

1. Presentation on Thalassemia
Presented to:
Dr. Uma Chatterjee Saha
Presented by:
Ankur Singh
PGDRM(III)-09

2. CONTENT
What is Thalassemia?
Types of Thalassemia
Signs and Symptoms Of Thalassemia
Diagnosing thalassemia
Treatment options for thalassemia
Life expectancy for someone with thalassemia
References

3. THALASSEMIA
• Thalassemia is a group of inherited blood disorders that affect the
body's ability to produce hemoglobin and red blood cells.
• Patients have a lower-than-normal number of red blood cells in their
bodies and too little hemoglobin.
• In many cases the red blood cells are too small.
• Our red blood cells carry hemoglobin. Hemoglobin, a protein, carries
the oxygen we breathe in through our lungs and transports it to the rest
of the body.
• A spongy material inside some of our bones, bone marrow uses iron
that our body takes from food and makes hemoglobin.

4. Cont..
• The bone marrow of people with Thalassemia does not produce
enough healthy hemoglobin or red blood cells, which causes anemia
and fatigue, because the body is short of oxygen.
• In more severe Thalassemia cases, the patient's organs may be
damaged, there is restricted growth, heart failure, liver damage, and
even death.
• People with mild thalassemia may not require any treatment at all. In
more severe forms of the disease, the patient may need regular blood
transfusions.
• Doing plenty of exercises and eating a healthy diet can help to reduce
some of the symptoms of thalassemia, especially fatigue.

5. Types of Thalassemia
• Two alpha globin and two beta
globin protein chains make up
hemoglobin. There are two types of
thalassemia:
Alpha Thalassemia
The alpha thalassemia patient's
hemoglobin does not produce enough
alpha protein. This type is commonly
found in southern China, Southeast
Asia, India, the Middle East, and
Africa.
Beta Thalassemia
We need two globin genes to make
beta globin chains. We get one from
each parent. If one or two of these
genes are faulty, it produces beta
thalassemia.

6. Signs and Symptoms Of Thalassemia
• Signs And Symptoms Of Beta Thalassemia
a) The majority of infants with beta thalassemia will not have
symptoms until they reach six months, because they start off with a
different type of hemoglobin called fetal hemoglobin. After the age
of six months "normal" hemoglobin starts replacing the fetal one.
b) People with thalassemia mainly have anemia-like symptoms.
i. Jaundice
ii. Fatigue
iii. Pale skin
iv. Cold hands and feet
v. Shortness of breath

7. Cont..
vi. Poor feeding
vii. Delayed growth
viii.Skeletal deformities - in some cases as the body tries to produce
more bone marrow
ix. Too much iron - the body will try to absorb more iron to
compensate. Iron may also accumulate from blood transfusions.
Excessive iron can harm the spleen, heart and liver
x. Greater susceptibility to infections
xi. Delayed puberty

8. Cont..
• Signs And Symptoms Of Alpha Thalassemia
a) The majority of children with hemoglobin H are generally healthy.
Symptoms will range from mild to moderate anemia.
i. Fatigue
ii. Drowsiness
iii. Chest pain
iv. Pale skin
v. Cold hands and feet
vi. Headaches
vii. Dizziness and feeling faint
viii.Shortness of breath

9. Diagnosing Thalassemia
• Most children with moderate to severe thalassemia are diagnosed by
the end of their second year.
• People with no symptoms may not realize until they have a child with
thalassemia and are then diagnosed as carriers.
• If the doctor suspects thalassemia, certain blood tests may be ordered:
a) A complete blood count (CBC)
b) Iron
c) Genetic testing

10. Cont..
• Prenatal testing for thalassemia
To find out whether the fetus has thalassemia and how severe it might
be. The following tests may be done:
a. Chorionic villus sampling
A piece of the placenta is taken out and checked in the laboratory.
This is usually done at the end of the first trimester, around the 11th
week of pregnancy.
b. Amniocentesis
A sample of amniotic fluid is taken. This usually occurs during the
16th week of pregnancy.

11. Treatment options for Thalassemia
• Blood transfusions
This is done to replenish hemoglobin and red blood cell levels. Patients
with moderate to severe thalassemia will have repeat transfusions every
4 months, while those with more severe disease may require
transfusions every two to four weeks. Patients with mild symptoms may
require occasional transfusions when they are ill or have an infection.
• Iron chelation
This involves removing excess iron from the bloodstream. Sometimes
blood transfusions can cause iron overload. Iron overload is bad for the
heart and some other organs. Patients may be prescribed subcutaneous
(injected under the skin) deferoxamine or oral (taken by mouth)
deferasirox.

12. Cont..
• Bone marrow transplant
It is also called a stem cell transplant. Bone marrow is a spongy tissue
that exists in the hollow centers of large bones. Bone marrow cells
produce red and white blood cells, hemoglobin and platelets.
• Surgery
Some patients with bone abnormalities may require surgery.

13. Life expectancy for someone with Thalassemia
• According to the American Academy of Family Physicians, a patient
with thalassemia trait has a normal life expectancy.
• Those with beta thalassemia major, on average live 17 years and
generally die before their thirtieth birthday.
• The majority of deaths are caused by the heart complications of iron
overload.

14. References
http://www.medicalnewstoday.com/articles/263489.php
http://www.healthcentral.com/encyclopedia/408/477.html
http://www.continentalhospitals.com/encyclopedia/t/thalassemia
Case study on Tribals
http://ispub.com/IJBA/1/2/5492

15. Thankyou