Acknowledgement

I express my sincere thanks to the Correspondent, Principal and Vice

Principal who has given me the opportunity to complete my project. I also
present my gratitude to my project guide Mrs. D. Divya for her valuable
tips and her guidance towards the successful completion of this project.
Finally, I would like to acknowledge and thank my beloved parents and all
my friends who provided the support to complete this project.
THALASSEMIA
 INDEX

S.No Content
01 Introduction (Thalassemia)

02 Types of Thalassemia

03 Causes of Thalassemia

04 Symptoms of Thalassemia

05 Treatment of Thalassemia

06 Living with Thalassemia

07 Thalassemia in India

08 Prevention of Thalassemia
Introduction (Thalassemia)

What is thalassemia?
Thalassemia is an inherited blood disorder in which the body makes an abnormal
form of hemoglobin. Hemoglobin is the protein molecule in red blood cells that
carries oxygen.

The disorder results in excessive destruction of red blood cells, which leads to
anemia. Anemia is a condition in which your body doesn’t have enough normal,
healthy red blood cells.

Thalassemia is inherited, meaning that at least one of your parents must be a

carrier of the disorder. It’s caused by either a genetic mutation or a deletion of
certain key gene fragments.

Thalassemia minor is a less serious form of the disorder. There are two main
forms of thalassemia that are more serious. In alpha thalassemia, at least one of
the alpha globin genes has a mutation or abnormality. In beta thalassemia, the
beta globin genes are affected.
Types of Thalassemia

Alpha thalassemia

You inherit four genes, two from each parent, that make alpha globin protein
chains. When one or more genes are defective, you develop alpha thalassemia.
The number of defective genes you inherit will determine whether you
experience anemia symptoms and (if so) how severe they’ll be.

 One defective or missing alpha gene means that you won’t experience
symptoms. Another name for this condition is alpha thalassemia minima.

 Two defective or missing alpha genes means that if you experience

symptoms, they’ll likely be mild. Another name is alpha thalassemia minor.

 Three defective or missing alpha genes means that you’ll experience

moderate to severe symptoms. Another name for this condition is
Hemoglobin H disease.

 Four defective or missing alpha genes usually results in death. In those rare
instances when a newborn survives, they’ll likely need lifelong blood
transfusions. Another name for this condition is hydrops fetals with
Hemoglobin Barts.
In the image, the alpha globin genes are located on chromosome 16. A child
inherits four alpha globin genes (two from each parent).

In this example, the father is missing two alpha globin genes and the mother is
missing one alpha globin gene.

Each child has a 25% chance of inheriting two missing genes and two normal
genes (thalassemia trait), three missing genes and one normal gene (hemoglobin
H disease), four normal genes (no anemia), or one missing gene and three normal
genes (silent carrier).
Beta thalassemia

You inherit two beta-globin genes, one from each parent. Your anemia symptoms
and how severe your condition is depends on how many genes are defective and
which part of the beta globin protein chain contains the defect.

 One defective or missing beta gene means that you’ll experience mild
symptoms. Another name for this condition is beta thalassemia minor.

 Two defective or missing beta genes means that you’ll experience

moderate to severe symptoms. The moderate version is called thalassemia
intermediate. More severe beta thalassemia involving two gene mutations
is called beta thalassemia major or Cooley’s anemia.

In the image, the beta globin gene is located on chromosome 11. A child inherits
two beta globin genes (one from each parent).
In this example, each parent has one altered beta globin gene. Each child has a
25% chance of inheriting two normal genes (no anemia), a 50% chance of
inheriting one altered gene and one normal gene (beta thalassemia trait), or a
25% chance of inheriting two altered genes (beta thalassemia major).
 Causes of Thalassemia

 Thalassemia is an inherited blood disorder that causes your body to produce

less hemoglobin than normal. Hemoglobin is a protein in red blood cells that
helps them carry oxygen to all parts of the body.

 Hemoglobin is made of two kinds of protein chains called alpha globin and
beta globin. Thalassemia develops when faulty genes prevent your body from
making the right amount of alpha globin or beta globin chains. When this
happens, red blood cells cannot carry enough oxygen to your body’s organs
and tissues.

 If you inherit faulty hemoglobin genes from one parent but normal genes from
the other, you are called a “carrier.” Carriers often have no signs of illness or
they may experience mild anemia.

 However, they can pass the faulty genes on to their children. If you inherit
faulty genes from both parents, your disease may be moderate to serious. The
two types of thalassemia are alpha thalassemia and beta thalassemia.
 Symptoms of Thalassemia

The symptoms of thalassemia are caused by anemia. Anemia is a condition that

develops when your blood produces a lower-than-normal amount of healthy red
blood cells. Anemia often develops in people with thalassemia because the body
cannot make enough hemoglobin. Without enough hemoglobin, red blood cells in
your blood stream cannot work properly to effectively deliver oxygen to cells
throughout your body.

Symptoms of anemia include:

 Feeling tired or weak

 Shortness of breath
 Paleness
 Dizziness and fainting
 Headaches

Depending on the type of thalassemia you have, you may experience mild anemia
or no symptoms at all.

Symptoms in young children

Children who have more serious types of thalassemia often have symptoms by
the time they are 2 years old. These can include:

 Pale skin or yellowing of the skin and eyes (jaundice)

 A large abdomen from a spleen or liver that is larger than normal
 Changes or problems with bones in the face
 Dark urine
 Poor appetite
 Intellectual or developmental disabilities
Treatment of Thalassemia

Blood transfusions

Most people with thalassemia major or other severe types will need to have
regular blood transfusions to treat anemia.

This involves being given blood through a tube inserted into a vein in your arm.
It's usually done in hospital and takes a few hours each time.

How often you need to have transfusions depends on the type of thalassemia you
have.

People with the most severe type, beta thalassemia major, may need a blood
transfusion about once a month. Those with less severe types may only need
them occasionally.

Blood transfusions are very safe, but they can cause too much iron to build up in
the body, so you'll need to take medicine to remove the excess iron.

Medicine to remove excess iron

Treatment to remove excess iron caused by regular blood transfusions is known

as chelation therapy.

It's very important because high levels of iron in the body can damage organs.

The treatment will usually need to start once you or your child has had around 10
blood transfusions.

Medicines used in chelation therapy are known as chelating agents.

There are 3 chelating agents currently available:

 DesferrIoxamine (DFO) – given as an infusion, where a pump slowly feeds

the liquid medicine through a needle into your skin over 8 to 12 hours; this
is done 5 or 6 times a week
 Defer prone (DFP) – taken as a tablet or liquid 3 times a day; it's sometimes
used alongside DFO to reduce the number of infusions you need
 Deferasirox (DFX) – taken once a day as a tablet that you dissolve in a drink

Each medicine has its own advantages and disadvantages. Your healthcare team
will help you decide which is likely to be best for you or your child.

Stem cell or bone marrow transplants are the only cure for thalassemia,
but they're not done very often because of the significant risks involved.

Stem cells are produced in bone marrow, the spongy tissue found in the center of
some bones, and have the ability to develop into different types of blood cells.

For a stem cell transplant, stem cells from a healthy donor are given through a
drip into a vein.

These cells then start to produce healthy red blood cells to replace the cells
affected by thalassemia.

A stem cell transplant is an intensive treatment that carries a number of risks.

The main risk is graft versus host disease, which is a life-threatening problem
where the transplanted cells start to attack the other cells in your body.

For people with serious types of thalassemia, the long-term benefits of a stem cell
transplant will need to be considered against the possible risks to help determine
whether the treatment is suitable.
Treating other problems

Thalassemia can also cause a number of other health problems that may need to
be treated.

For example:

 Hormone medication may be used to help trigger puberty in children

with delayed puberty and treat low hormone levels
 Vaccinations and antibiotics may be recommended to prevent and treat
infections
 Thyroid hormones may be used if there's a problem with your thyroid
gland (hypothyroidism)
 Medicines called bisphosphonates may be used to help strengthen your
bones
 Gallstones may be treated with gallbladder removal surgery
Living with Thalassemia

Healthy lifestyle

To help reduce your chances of developing some of the problems associated with
thalassemia, good idea to:

 Have a healthy, balanced diet – you do not usually need a special diet,
although sometimes you may be advised to take supplements such as folic
acid, calcium or vitamin D
 Exercise regularly – regular exercise, particularly weight-bearing and
aerobic exercise, can help strengthen bones and reduce the risk
of osteoporosis
 Avoid smoking and drinking excessive amounts of alcohol – this can help
keep your bones and heart healthy
 Try to avoid infection – wash your hands with soap and water regularly,
avoid close contact with sick people when possible, and ensure all
your vaccinations are up-to-date

Make sure you take your medicine as advised and attend all of your check-ups.

Pregnancy and contraception

Women with thalassemia major or other severe types can have a healthy
pregnancy, but it's a good idea to speak to your care team for advice first
because:

 It may be useful to find out if your partner is a carrier of thalassemia and

discuss the effects of this with a genetic counsellor.
 Some people with thalassemia need fertility treatment to help them get
pregnant.
  During pregnancy there's an increased risk of problems, such as heart
problems in the mother and growth problems in the baby
 You may need extra monitoring and changes to your treatment during
pregnancy.

If you're not planning a pregnancy, use a reliable form of contraception.

Vaccines

Vaccines are a great way to prevent many serious infections. Children and adults
with thalassemia should get all recommended vaccinations, including a flu
vaccination. People with thalassemia are considered “high risk” for certain
infections, especially if they have had their spleen removed, and should follow a
special vaccination schedule for the following vaccines:

 Hemophilus influenzae type b (Hib)

 Pneumococcal vaccines
 Meningococcal vaccines

Precautions before you have surgery

It's important to let your healthcare team know if you need to have an operation
under general anesthetic at any point. You should also tell your surgeon that you
have thalassemia.

This is because general anesthetic can cause problems such as an increased risk
of blood clots for people with thalassemia.

You may need close monitoring during surgery and a blood transfusion before or
afterwards to reduce the risk of complications.
When to get medical advice

It's important to make sure you know when to get medical advice and where to
go, as thalassemia can cause a number of serious problems that can appear
suddenly.

Symptoms to look out for include:

 A high temperature
 Chills
 Diarrhea and vomiting
 A fast heartbeat
 Rapid breathing
 Sudden tummy (abdominal) pain or swelling
 Severe or worsening yellowing of the skin or eyes (jaundice)
 Weakness in the limbs
 Pounding, fluttering or irregular heartbeats (palpitations)
 Fits (seizures)
Thalassemia in India

Thalassemia, a genetic blood disorder is one rare disease still prevalent here. It is
an inherited disease characterized by faulty hemoglobin synthesis and RBC
production in the body, meaning that a thalassemia patient would require long-
term blood transfusions to sustain life.

With an estimated 42 million beta-thalassemia carriers and 10,000 new cases

reported each year, one in eight patients reside in India. The number also runs
high in the pediatric population.

Among the 27 million births happening each year, it has been suggested that
there would be more than 10,000 kids with thalassemia major, which is easily
preventable. Therapies for thalassemia management not only cost a lot, but they
are also needed lifelong to sustain life. Hence, quality and safety of blood samples
cannot be compromised on.

To be on par with global standards of acceptance and care management, India

needs to increase adoption of new age testing technologies and screening
methods. Besides, access to safe quality blood is in accordance with the
legislation on rights of people with disabilities. Hence, every effort must be to
ensure that transported blood is safe and infection-free.

The use of NAT, currently available only in a few states should be endorsed
nationwide. Lack of a central nodal body managing blood bank services further
complicates the issue with different states following their own mandates.

For instance, Madhya Pradesh, Odisha and Jammu & Kashmir are the only three
states so far who have adopted best-in-class Nucleic Acid Testing technology
(NAT) screening technology at government-run blood banks.
It is much safer, and stronger than serology tests and brings down infection risks
in by a huge percentage. Experts also stress on the incorporation of safe blood
practices such as the use of antigen-matched blood transfusion and promote
pre-natal screening
Prevention of Thalassemia

Thalassemia is an autosomal recessive hemoglobiopathy and is the most common

monogenic disorders in the world it is arises from a mutation or deletion one or
more globin gene(s), which leads to a reduction or absence in the production of
hemoglobin.

Ultimately it causes varying degrees of microcytic anemia that can range from
insignificant to life threatening. The incidence of the disease is rising day by day
leading to a formidable problem in our society.

Prevention of thalassemia is not single step procedure. It requires the conjoint

collaboration of the psychiatrist, physicians, counsellors, and also the
government. Pre-marriage testing of a couple for overt thalassemia and its carrier
state is to be determined.

If a carrier is detected then the person should be well counselled. In cases of

pregnant women amniocentesis, chorionic villous material extraction and DNA-
sequencing of the foetus can be done in order to detect the presence of
thalassemia.

If the baby is found to be diseased then the parents can decide whether they
could go for an abortion. If not aborted the baby must be on treatment from the
early part of life.

Ante-natal detection of thalassemia major by molecular diagnostics is to be

carried out. Regular blood tests, especially in the school going age, will catch
these carriers early, thus giving the parents a fighting chance to ward off
thalassemia major babies being later.
The government has to play an important role in the prevention of this genetic
disease. In remote corners of India where cutting-edge technology is not
accessible these tests are not feasible, neither they are economically viable for
bulk population of our country who resides below the poverty line. NESTOFT can
be used to screen the patients also.

Government should take necessary measures to make these facilities available

even at mass level; they can implement policies so that the patients and the traits
enjoy both social and economic privileges.

Thus a multi-organization approach can lead to a nice approach to curb down the
increasing rates of thalassemia in our country thus leading to a reduction in levels
of morbidity and mortality.
Bibliography

 WWW.WEBMD.COM
 WWW.THALASSEMIA.COM
 WWW.GCSRA.COM
 Thalassemia Major
 Understanding Thalassemia