This presentation summarizes the management and prevention of Thalassemia. [1] Thalassemia Major is a blood disorder where the bone marrow cannot produce sufficient red blood cells or keep them alive, requiring lifelong blood transfusions. [2] Regular transfusions lead to iron overload without chelation therapy, damaging vital organs. [3] Prevention relies on public awareness of carrier screening and antenatal diagnosis to reduce the 8,000-10,000 new Thalassemia Major cases born in India each year.

1. Presentation on Thalassemia 's
Management and Prevention
By: Hemant Bellani,
On behalf of Thalassemics India
Date : 08th Dec 2011

2. Disclaimer
 Please be aware, that the sole purpose of this
presentation is to spread awareness on
prevention and management of Thalassemia.
 Please contact a medical practitioner or
doctor, before initiating any medical action
upon reading this presentation.
 Thalassemics India will not be responsible for
any action initiated with prior advice from a
medical practitioner or doctor.

3. Agenda
 What is Thalassemia ?
 Cause, Myth and Reason
 How a Thalassemia child lives ?
 Way to Stop this
 What you can do for us ?

4. What is Thalassemia ?
 Thalassemia Major is defined as an inherited blood disorder in which
the affected children are not able to maintain Hemoglobin (Hb) in the
normal range.
 Blood disorder in which the bone marrow cannot form sufficient red
cells and red cell survival is also reduced .
 The disease is particularly prevalent among Mediterranean peoples,
and this geographical association was responsible for its naming:
Thalassa is Greek for the sea, Haema is Greek for blood.
 It is more prominent in certain parts of the world like the Mediterranean
Countries , Asia ,the Middle East etc . In India , it is estimated ,3.4%
(Range upto 17%) of our population is carrier/minor .
 Every year 7000-10,000 children with Thalassemia Major are born in
India . It is more prevalent in communities like Sindhis,Punjabis,
Gujaratis ,Marwardis ,Bengalis ,Saraswats ,Gaurs etc.

5. What is Thalassemia Major?
Thalassemia Major is serious disorder, People with the Thalassemia major
have insufficient hemoglobin, the critical oxygen carrying component of
blood
 Patients with Thalassemia major need blood transfusions every 2-4 weeks to maintain hemoglobin levels
 With regular transfusion and removal of iron (chelation therapy), Thalassemics can live and grow into
adulthood. During Blood transfusion they are exposed to infections like Hepatitis C, hepatitis B and HIV.
 Due to regular transfusion the Iron overload in the body increase if not cheated it damages to the liver,
heart, pancreas and other glands.
 Untreated Thalassemia Major eventually leads to death.
 The only curative treatment is bone marrow transplant.
Thalassemia Major (& intermedia) needs medical attention. Thalassemia Minor is not a
disease

6. Inheritance of Thalassemia
When both parents are Thalassemia Minors or Carriers there is
a 25% chance of the birth of a Thalassemia Major child ,
25%chance of a normal child and 50% chance of a Thalassemia
Minor child .

7. What are the possible types of Thalassemia ?
Each person can be either of the following three :
1
 People who live a normal life and do not carry the gene for
Normal Thalassemia
 Majority of us belong to this group
 People who live normal lives but carry the gene for Thalassemia
There is also an 2
 Thalassemia minor is not a disease
intermediate condition  Over 6 crore1 Indians are Thalassemia minors and are living normal
called “Beta Thalassemia
Thalassemia lives
Minor
Intermedia” – a
condition where
 Many notable people are known to be Thalassemia minors
children maintain Hb – Amitabh Bachchan, Amisha Patel, Pete Sampras, Zinedine
levels of 6 - 9 gm
Zidane (Wikipedia, Times of India)
3
Thalassemia  People who have two abnormal genes are called Major.
Major

8. Cause, Myth and Reason
 There are three type of human being : Normal ,Minor and Major carrier
Thalassemia.
 Thalassemia is of two types : Minor and Major
 Thalassemia minors are people who carry one defective gene
of Thalassemia .They are normal people except that during
stress situations in life (like some serious surgery /pregnancy
etc ) they may have low hemoglobin.
 Thalassemia Major is a blood disorder which causes severe
anemia and related complications .Thalassemia major patients
have two defective genes of Thalassemia ,acquired one from
each Thalassemia minor parent .To survive the affected
children require repeated blood transfusions (every two-four
weeks )for their whole life.

9. How a Thalassemia child lives ?
 Blood Infections :
 Though the donor blood is tested for various transfusion transmitted still the patient
are prone to infections like HIV,HBV,VDRL and Malaria. Thalassemia patients are
always at a risk of getting these infections, for the test may not always pickup the
infection as it might be at an early stage (window period) in the donor .
 Iron Overload :
 As a result of repeated blood transfusions,Thalassemia patients develop Iron
Overload. Unfortunately the human body has no natural mechanism of excreting the
excess iron from the body . This excess iron gets deposited in and around the various
vital organs of the body and ultimately causes organ failure .
 It is very important to remove the excess iron from the patients body .This can be
achieved by medicines only . This process of excess iron removal is called Iron
Chelation . There are different medicines called Chelators available in the market to
remove this excess iron from the body .
 Treatment with Desferal is very expensive and traumatic .This makes compliance
difficult . Each vial of Desferal costs around Rs.165/- .Each person needs 2 vials every
day In addition to this the infusion pump costs Rs.15,000/- . Monthly costs goes upto
Rs.10,000 Per child.
 Other Diseases : Jaundice, Osteoporosis, Heart problems.

10. Way to Stop this
 There are 8000-10,000 new Thalassemic Majors born in our country
every year . We need to take some important steps to control the birth
of more Thalassemics .The only way this can be done is through :
 Public Awareness
 Carrier Detection
 Antenatal Diagnosis
 We need to take lessons from countries like Greece , Cyprus and
Sardinia where the prevalence of Thalassemia minors is upto 17% and
yet they have controlled the birth of Thalassemics Majors . Public
awareness about this disorder and related management and
complications is very vital. The carrier rate in our country is 3-17 %.
The media needs to be proactive in spreading this message and the
government needs to make testing for Thalassemia carrier status
mandatory at the pregnancy stage

11. What you can do for us ?
 Awareness – Spread as much awareness as
you can for Thalassemia prevention
 Blood Donation Camps – Organize/Participate
in Voluntary Blood Donation Camps, as it’s a
perennial requirement for all thalassemics.
 Supporting Under Privileged Thal children to
enable them receive requisite medical
facilities and management
 Join hands with volunteers in activities of
society.

12. Thanks for your time