KIKANI VIDHYA MANDIR

COIMBATORE

BIOLOGY INVESTIGATORY PROJECT

“MENDELIAN DISORDERS”
Submitted in partial fulfilment of
SSCE 2024-2025
by,
Shri Hare. U
Grade 12 “B”
Registration No:______
Under the guidance of,
Ms. Kanagadurga M.Sc., B.Ed., PGDCB
PGT Biology, Kikani Vidhya Mandir,
Coimbatore.
 CERTIFICATE
This is to certify that this ‘Biology Investigatory Project’ on

the topic “MENDELIAN DISORDERS” has been

successfully completed by SHRI HARE. U of Class XII under

the guidance of, Ms. Kanagadurga, PGT Biology, in partial

fulfilment of the curriculum of Central Board of Secondary

Education (CBSE) leading to the award of SSCE of the year

2024-2025.

Internal Examiner External Examiner

Principal
 ACKNOWLEDGEMENT

I have sincerely 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 beloved Principal Mrs. Geetha Raj, Vice Principal Mrs.

Jayalatha Rosalin and the school for providing me with facilities required to do

my project.

I am highly indebted to my biology teacher, Ms. Kanagadurga 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.

I would like to thank my cousin sister and my maternal grandmother for their

valuable suggestion and ideas for making this project a great one.

Finally, I thank my friends for their constant support and presence.

MENDELIAN DISORDERS :

INTRODUCTION

Mendelian disorder is a category of Genetic

disorder. They are mainly determined by
alteration or mutation in the single gene .These
disorders are transmitted to the offspring on the
same lines as in the principle of inheritance. The
pattern of inheritance of such mendelian disorders
can be traced in a family by pedigree analysis.
Most common and prevalent mendelian disorders
are Haemophilia, Cystic Fibrosis, Sickle-cell anemia, and Thalassemia. Such mendelian disorders may
be dominant or recessive. By pedigree analysis one can easily understand whether the trait is dominant
or recessive. Similarly, the trait may also be linked to the sex chromosome as in case of Haemophilia.

It is evident that this X-linked recessive trait shows transmission from carrier female to male progeny.
SICKLE CELL ANEMIA

What Is Sickle Cell Anemia?

Sickle cell anemia is the most common form of sickle cell disease (SCD). SCD is a serious disorder in
which the body makes sickle-shaped red blood cells. “Sickle- shaped” means that the red blood cells are
shaped like a crescent.

Normal red blood cells are disc-shaped and look like doughnuts without holes in the center. They move
easily through your blood vessels. Red blood cells contain an iron-rich protein called hemoglobin. This
protein carries oxygen from the lungs to the rest of the body. Sickle cells contain abnormal hemoglobin
called sickle hemoglobin or hemoglobin S. Sickle hemoglobin causes the cells to develop a sickle, or
crescent, shape.

Sickle cells are stiff and sticky. They tend to block blood flow in the blood vessels of the limbs and
organs. Blocked blood flow can cause pain and organ damage. It can also raise the risk for infection.
 Normal Red Blood Cells and Sickle Cells

Figure A shows normal red blood cells flowing freely in a blood vessel. The inset image shows a cross-
section of a normal red blood cell with normal hemoglobin. Figure B shows abnormal, sickled red blood
cells blocking blood flow in a blood vessel. The inset image shows a cross-section of a sickle cell with
abnormal (sickle) hemoglobin forming abnormal strands.

Overview

Sickle cell anemia is one type of anemia. Anemia is a condition in which your blood has a lower-than-
normal number of red blood cells. This condition also can occur if your red blood cells don't contain
enough hemoglobin.

Red blood cells are made in the spongy marrow inside the larger bones of the body. Bone marrow is
always making new red blood cells to replace old ones. Normal red blood cells live about 120 days
in the bloodstream and then die. They carry oxygen and remove carbon dioxide (a waste product) from
your body.
In sickle cell anemia, the abnormal sickle cells usually die after only about 10 to 20 days. The bone
marrow can't make new red blood cells fast enough to replace the dying ones.

Sickle cell anemia is an inherited, lifelong disease. People who have the disease are born with it. They
inherit two genes for sickle hemoglobin—one from each parent.

People who inherit a sickle hemoglobin gene from one parent and a normal gene from the other parent
have a condition called sickle cell trait.

Sickle cell trait is different than sickle cell anemia. People who have sickle cell trait don't have the
disease. Like people who have sickle cell anemia, people who have sickle cell trait can pass the sickle
hemoglobin gene to their children.

SICKLE CELL MUTATION

Outlook

Sickle cell anemia has no widely available cure. However, treatments to improve the anemia and lower
complications can help with the symptoms and complications of the disease in both children and adults.
Blood and marrow stem cell transplants may offer a cure for a small number of people.
Over the past 100 years, doctors have learned a great deal about sickle cell anemia. They know its
causes, how it affects the body, and how to treat many of its complications.

Sickle cell anemia varies from person to person. Some people who have the disease have chronic (long-
term) pain or fatigue (tiredness). However, with proper care and treatment, many people who have the
disease can have improved quality of life and reasonable health much of the time.

Because of improved treatments and care, people who have sickle cell anemia are now living into their
forties or fifties, or longer.

What Causes Sickle Cell Anemia?

Sickle cell anemia is an inherited disease. People who have the disease inherit two genes for sickle
hemoglobin—one from each parent.

Sickle hemoglobin causes red blood cells to develop a sickle, or crescent, shape.
Sickle cells are stiff and sticky. They tend to block blood flow in the blood vessels of the limbs and
organs. Blocked blood flow can cause pain and organ damage. It can also raise the risk for infection.

Sickle Cell Trait

People who inherit a sickle hemoglobin gene from one parent and a normal gene from the other parent
have sickle cell trait. Their bodies make both sickle hemoglobin and normal hemoglobin.

People who have sickle cell trait usually have few, if any, symptoms and lead normal lives. However,
some people may have medical complications.

People who have sickle cell trait can pass the sickle hemoglobin gene to their children. The following
image shows an example of an inheritance pattern for sickle cell trait.
Example of an Inheritance Pattern for Sickle Cell Trait

The image shows how sickle hemoglobin genes are inherited. A person inherits two hemoglobin genes
—one from each parent. A normal gene will make normal hemoglobin (A). A sickle hemoglobin gene
will make abnormal hemoglobin (S).

When both parents have a normal gene and an abnormal gene, each child has a 25 percent chance of
inheriting two normal genes; a 50 percent chance of inheriting one normal gene and one abnormal.

What Are the Signs and Symptoms of Sickle Cell Anemia?

The signs and symptoms of sickle cell anemia vary. Some people have mild symptoms. Others have
very severe symptoms and often are hospitalized for treatment.

Sickle cell anemia is present at birth, but many infants don't show any signs until after 4 months of age.

The most common signs and symptoms are linked to anemia and pain. Other signs and symptoms are
linked to the disease's complications.
Signs and Symptoms Related to Anemia

The most common symptom of anemia is fatigue (feeling tired or weak). Other signs and symptoms of
anemia include:

 Shortness of breath

 Dizziness

 Headaches

 Coldness in the hands and feet

 Paler than normal skin or mucous membranes (the tissue that lines your nose, mouth, and other
organs and body cavities)

 Jaundice (a yellowish color of the skin or whites of the eyes)

Signs and Symptoms Related to Pain

Sudden pain throughout the body is a common symptom of sickle cell anemia. This pain is called a
sickle cell crisis. Sickle cell crises often affect the bones, lungs, abdomen, and joints.

How Is Sickle Cell Anemia Diagnosed?

A simple blood test, done at any time during a person's lifespan, can detect whether he or she has sickle
hemoglobin. However, early diagnosis is very important.

In the United States, all States mandate testing for sickle cell anemia as part of their newborn screening
programs. The test uses blood from the same blood samples used for other routine newborn screening
tests. The test can show whether a newborn infant has sickle hemoglobin. Test results are sent to the
doctor who ordered the test and to the baby's primary care doctor. It's important to give the correct
contact information to the hospital. This allows the baby's doctor to get the test results as quickly as
possible.

Health providers from a newborn screening follow up program may contact you directly to make sure
you're aware of the test results. If the test shows some sickle hemoglobin, a second blood test is done to
confirm the diagnosis. The second test should be done as soon as possible and within the first few
months of life.

The primary care doctor may send you to a hematologist for a second blood test. A hematologist is a
doctor who specializes in blood diseases and disorders. This doctor also can provide treatment for sickle
cell disease if needed.
Doctors also can diagnose sickle cell disease before birth. This is done using a sample of amniotic fluid
or tissue taken from the placenta. (Amniotic fluid is the fluid in the sac surrounding a growing embryo.
The placenta is the organ that attaches the umbilical cord to the mother's womb.)Testing before birth can
be done as early as 10 weeks into the pregnancy. This testing looks for the sickle hemoglobin gene,
rather than the abnormal hemoglobin that the gene makes.

How Is Sickle Cell Anemia Treated?

Sickle cell anemia has no widely available cure. However, treatments can help relieve symptoms and
treat complications. The goals of treating sickle cell anemia are to relieve pain; prevent infections, organ
damage, and strokes and control complications (if they occur).

Blood and marrow stem cell transplants may offer a cure for a small number of people who have sickle
cell anemia. Researchers continue to look for new treatments for the disease. Infants who have been
diagnosed with sickle cell anemia through newborn screening are treated with antibiotics to prevent
infections and receive needed vaccinations. Their parents are educated about the disease and how to
manage it. These initial treatment steps have greatly improved the outcome for children who have sickle
cell anemia.

Specialists Involved

People who have sickle cell anemia need regular medical care. Some doctors and clinics specialize in
treating people who have the disease. Hematologists specialize in treating adults and children who have
blood diseases or disorders.

Treating Pain

Medicines and Fluids

Mild pain often is treated at home with over-the-counter pain medicines, heating pads, rest, and plenty
of fluids. More severe pain may need to be treated in a day clinic, emergency room, or hospital.

The usual treatments for acute (rapid-onset) pain are fluids, medicines, and oxygen therapy (if the
oxygen level is low). Fluids help prevent dehydration, a condition in which your body doesn't have
enough fluids. Fluids are given either by mouth or through a vein.

Hydroxyurea
Severe sickle cell anemia can be treated with a medicine called hydroxyurea. This medicine prompts
your body to make fetal hemoglobin. Fetal hemoglobin, or hemoglobin F, is the type of hemoglobin that
newborns have. In people who have sickle cell anemia, fetal hemoglobin helps prevent red blood cells
from sickling and improves anemia.
Taken daily by mouth, hydroxyurea reduces how often painful sickle cell crises and acute chest
syndrome occur. Many people taking hydroxyurea also need fewer blood transfusions and have fewer
hospital visits.

Preventing Complications

Blood transfusions are commonly used to treat worsening anemia and sickle cell complications. A
sudden worsening of anemia due to an infection or enlarged spleen is a common reason for a blood
transfusion.

Some, but not all, people who have sickle cell anemia need regular blood transfusions to prevent life-
threatening problems, such as stroke, spleen problems, or acute chest syndrome.

Having routine blood transfusions can cause side effects. Examples include allergic reactions and a
dangerous buildup of iron in the body (which must be treated). In general, the blood supply is fairly safe
from infections such as hepatitis and HIV.

Infections

Infections can be a major complication of sickle cell anemia throughout life, but especially during
childhood. Often, infections can be prevented or treated.

To prevent infections in babies and young children, treatments include:

 Daily doses of antibiotics. Treatment may begin as early as 2 months of age and continue until the
child is at least 5 years old.

 All routine vaccinations (including a yearly flu shot), plus the pneumococcal vaccine.

Regular Health Care for Children

Children who have sickle cell anemia need routine health care (just like children who don't have the
disease). They need to have their growth checked regularly. They also need to get the routine shots that
all children get.

All children younger than 2 years old should see their doctors often. Children who have sickle cell
anemia may need even more checkups. After age 2, children who have sickle cell anemia may not need
to see their doctors as often, but they usually still need checkups at least every 6 months. These visits are
a time for parents to talk with their child's doctor and ask questions about the child's care. Talk with
your child's doctor about eye checkups and whether your child needs an ultrasound scan of the brain.

Until age 5, daily penicillin is given to most children who have sickle cell anemia. Doctors also give
many children a vitamin called folic acid (folate) to help boost red blood cell production. Young
children who have sickle cell anemia should have regular checkups with a hematologist (a blood
specialist).

New Treatments

Research on blood and marrow stem cell transplants, gene therapy, and new medicines for sickle cell
anemia is ongoing. The hope is that these studies will provide better treatments for the disease.
Researchers also are looking for a way to predict the severity of the disease.

Blood and Marrow Stem Cell Transplant

A blood and marrow stem cell transplant can work well for treating sickle cell anemia. This treatment
may even offer a cure for a small number of people. The stem cells used for a transplant must come
from a closely matched donor. The donor usually is a close family member who doesn't have sickle cell
anemia. This limits the number of people who may have a donor.

The transplant process is risky and can lead to serious side effects or even death.
However, new transplant approaches may improve treatment for people who have sickle cell anemia and
involve less risk. Blood and marrow stem cell transplants usually are used for young patients who have
severe sickle cell anemia. However, the decision to give this treatment is made on a case-by-case basis.

Researchers continue to look for sources of bone marrow stem cells—for example, blood from babies'
umbilical cords. They also continue to look for ways to reduce the risks of this procedure.

Gene Therapy

Gene therapy is being studied as a possible treatment for sickle cell anemia. Researchers want to know
whether a normal gene can be put into the bone marrow stem cells of a person who has sickle cell
anemia. This would cause the body to make normal red blood cells.
Researchers also are studying whether they can "turn off" the sickle hemoglobin gene or "turn on" a
gene that makes red blood cells behave normally.

New Medicines

Researchers are studying several medicines for sickle cell anemia. They include:
 Decitabine: Like hydroxyurea, this medicine prompts the body to make fetal hemoglobin. Fetal
hemoglobin helps prevent red blood cells from sickling and improves anemia. Decitabine might be used
instead of hydroxyurea or added to hydroxyurea.

 Adenosine A2a receptor agonists: These medicines may reduce pain-related complications in
people who have sickle cell anemia.

 5-HMF: This natural compound binds to red blood cells and increases their oxygen. This helps
prevent the red blood cells from sickling.

How Can Sickle Cell Anemia Be Prevented?

You can’t prevent sickle cell anemia, because it’s an inherited disease. If a person is born with it, steps
should be taken to reduce complications. People who are at high risk of having a child with sickle cell
anemia and are planning to have children may want to consider genetic counseling. A counselor can
explain the risk (likelihood) of having a child who has the disease. He or she also can help explain the
choices that are available.

You can find information about genetic counseling from health departments, neighborhood health
centers, medical centers, and clinics that care for people who have sickle cell anemia.

Living With Sickle Cell Anemia

With good health care, many people who have sickle cell anemia can live productive lives. They also
can have reasonably good health much of the time and live longer today than in the past. Many people
who have sickle cell anemia now live into their forties or fifties, or longer.

If you have sickle cell anemia, it's important to:

 Adopt or maintain a healthy lifestyle.

 Take steps to prevent and control complications.

 THALASSEMIA

What is Thalassemia’s?

Thalassemia’s are inherited blood disorders. "Inherited" means that the disorder is passed from parents to
children through genes.

Thalassemia’s cause the body to make fewer healthy red blood cells and less hemoglobin than normal.
Hemoglobin is an iron-rich protein in red blood cells. It carries oxygen to all parts of the body.
Hemoglobin also carries carbon dioxide (a waste gas) from the body to the lungs, where it's exhaled.
People who have thalassemia’s can have mild or severe anemia. Anemia is caused by a lower-than-
normal number of red blood cells or not enough hemoglobin in the red blood cells.

Overview

Normal hemoglobin, also called hemoglobin A, has four protein chains—two alpha globin and two beta
globin. The two major types of thalassemia, alpha and beta, are named after defects in these protein
chains.

Four genes (two from each parent) are needed to make enough alpha globin protein chains. Alpha
thalassemia trait occurs if one or two of the four genes are missing. If more than two genes are missing,
moderate to severe anemia occurs.

The most severe form of alpha thalassemia is called alpha thalassemia major or hydrops fetalis. Babies who
have this disorder usually die before or shortly after birth. Two genes (one from each parent) are needed
to make enough beta globin protein chains. Beta thalassemia occurs if one or both genes are altered.

The severity of beta thalassemia depends on how much one or both genes are affected. If both genes are
affected, the result is moderate to severe anemia. The severe form of beta thalassemia is known as
thalassemia major or Cooley's anemia.
Thalassemia’s affect males and females. The disorders occur most often among people of Italian, Greek,
Middle Eastern, Southern Asian, and African descent. Severe forms usually are diagnosed in early
childhood and are lifelong conditions.
Doctors diagnose thalassemia’s using blood tests. The disorders are treated with blood transfusions,
medicines, and other procedures.

Outlook
Treatments for thalassemia’s have improved over the years. People who have moderate or severe
thalassemia’s are now living longer and have better quality of life.

However, complications from thalassemia’s and their treatments are frequent.

People who have moderate or severe thalassemia’s must closely follow their treatment plans. They need to
take care of themselves to remain as healthy as possible.

What Causes Thalassemia’s?

Your body makes three types of blood cells: red blood cells, white blood cells, and platelets. Red blood cells
contain hemoglobin, an iron-rich protein that carries oxygen from your lungs to all parts of your body.
Hemoglobin also carries carbon dioxide (a waste gas) from your body to your lungs, where it's exhaled.

Hemoglobin has two kinds of protein chains: alpha globin and beta globin. If your body doesn't make
enough of these protein chains or they're abnormal, red blood cells won't form correctly or carry enough
oxygen. Your body won't work well if your red blood cells don't make enough healthy hemoglobin.
Genes control how the body makes hemoglobin protein chains. When these genes are missing or altered,
thalassemia’s occur.

Thalassemia’s are inherited disorders—that is, they're passed from parents to children through genes. People
who inherit faulty hemoglobin genes from one parent but normal genes from the other are called
carriers. Carriers often have no signs of illness other than mild anemia. However, they can pass the
faulty genes on to their children. People who have moderate to severe forms of thalassemia have
inherited faulty genes from both parents.

Alpha Thalassemia

You need four genes (two from each parent) to make enough alpha globin protein chains. If one or more of
the genes is missing, you'll have alpha thalassemia trait or disease. This means that your body doesn't
 make enough alpha globin protein.

 If you're only missing one gene, you're a "silent" carrier. This means you won't have any signs of
illness.

 If you're missing two genes, you have alpha thalassemia trait (also called alpha thalassemia
minor). You may have mild anemia.

 If you're missing three genes, you likely have hemoglobin H disease (which a blood test can
detect). This form of thalassemia causes moderate to severe anemia.

Very rarely, a baby is missing all four genes. This condition is called alpha thalassemia major or hydrops
fetalis. Babies who have hydrops fetalis usually die before or shortly after birth.

Example of an Inheritance Pattern for Alpha Thalassemia

The picture shows one example of how alpha thalassemia is inherited. 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 percent 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 need two genes (one from each parent) to make enough beta globin protein chains. If one or both of
these genes are altered, you'll have beta thalassemia. This means that your body won’t make enough
beta globin protein.

 If you have one altered gene, you're a carrier. This condition is called beta thalassemia trait or beta
thalassemia minor. It causes mild anemia.

 If both genes are altered, you'll have beta thalassemia intermedia or beta thalassemia major (also
called Cooley's anemia). The intermedia form of the disorder causes moderate anemia. The major form
causes severe anemia.

Example of an Inheritance Pattern for Beta Thalassemia

The picture shows one example of how beta thalassemia is inherited. 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 percent chance of inheriting two normal
genes (no anemia), a 50 percent chance of inheriting one altered gene and one normal gene (beta
thalassemia trait), or a 25 percent chance of inheriting two altered genes (beta thalassemia major).
Who Is at Risk for Thalassemia ?

Family history and ancestry are the two risk factors for thalassemia.

Family History

Thalassemia is inherited—that is, the genes for the disorders are passed from parents to their children. If
your parents have missing or altered hemoglobin-making genes, you may have thalassemia.
Thalassemia occurs most often among people of Italian, Greek, Middle Eastern, Southern Asian, and
African descent.

What Are the Signs and Symptoms of Thalassemia ?

A lack of oxygen in the bloodstream causes the signs and symptoms of thalassemia. The lack of oxygen
occurs because the body doesn't make enough healthy red blood cells and hemoglobin. The severity of
symptoms depends on the severity of the disorder.
No Symptoms

Alpha thalassemia silent carriers generally have no signs or symptoms of the disorder. The lack of alpha
globin protein is so minor that the body's hemoglobin works normally.

Mild Anemia

People who have alpha or beta thalassemia trait can have mild anemia. However, many people who have
these types of thalassemia have no signs or symptoms.

Mild anemia can make you feel tired. Mild anemia caused by alpha thalassemia trait might be mistaken for
iron-deficiency anemia.

Mild to Moderate Anemia and Other Signs and Symptoms

People who have beta thalassemia intermedia have mild to moderate anemia.
They also may have other health problems, such as:

 Slowed growth and delayed puberty. Anemia can slow down a child's growth and development.

 Bone problems. Thalassemia may cause bone marrow to expand. Bone marrow is the spongy
substance inside bones that makes blood cells. When bone marrow expands, the bones become wider
 than normal. They may become brittle and break easily.

 An enlarged spleen. The spleen is an organ that helps your body fight infection and remove
unwanted material. When a person has thalassemia, the spleen has to work very hard. As a result, the
spleen becomes larger than normal. This makes anemia worse. If the spleen becomes too large, it must
be removed.

Severe Anemia and Other Signs and Symptoms

People who have hemoglobin H disease or beta thalassemia major (also called Cooley's anemia) have severe
thalassemia. Signs and symptoms usually occur within the first 2 years of life. They may include severe
anemia and other health problems, such as:

 A pale and listless appearance

 Poor appetite

 Dark urine (a sign that red blood cells are breaking down)

 Slowed growth and delayed puberty

 Jaundice (a yellowish color of the skin or whites of the eyes)

 An enlarged spleen, liver, or heart

 Bone problems (especially with bones in the face)

Complications of Thalassemia

Better treatments now allow people who have moderate and severe thalassemia to live much longer. As a
result, these people must cope with complications of these disorders that occur over time.

Heart and Liver Diseases

Regular blood transfusions are a standard treatment for thalassemia.

Transfusions can cause iron to build up in the blood (iron overload). This can damage organs and tissues,
especially the heart and liver.
Heart disease caused by iron overload is the main cause of death in people who have thalassemia. Heart
disease includes heart failure, arrhythmias (irregular heartbeats), and heart attack.

Infection

Among people who have thalassemia, infections are a key cause of illness and the second most common
cause of death. People who have had their spleens removed are at even higher risk because they no
longer have this infection-fighting organ.

Osteoporosis

Many people who have thalassemia have bone problems, including osteoporosis. This is a condition in
which bones are weak and brittle and break easily.

How Are Thalassemia Diagnosed?

Doctors diagnose thalassemia using blood tests, including a complete blood count (CBC) and special
hemoglobin tests.

 A CBC measures the amount of hemoglobin and the different kinds of blood cells, such as red
blood cells, in a sample of blood. People who have thalassemia have fewer healthy red blood cells and
less hemoglobin than normal in their blood. People who have alpha or beta thalassemia trait may have
red blood cells that are smaller than normal.

 Hemoglobin tests measure the types of hemoglobin in a blood sample. People who have
thalassemia have problems with the alpha or beta globin protein chains of hemoglobin.

How Are Thalassemia Treated?

Treatments for thalassemia depend on the type and severity of the disorder. People who are carriers or who
have alpha or beta thalassemia trait have mild or no symptoms. They’ll likely need little or no treatment.

Doctors use three standard treatments for moderate and severe forms of thalassemia. These treatments
include blood transfusions, iron chelation therapy, and folic acid supplements. Other treatments have
been developed or are being tested, but they're used much less often.
Standard Treatments Blood Transfusions
Transfusions of red blood cells are the main treatment for people who have moderate or severe thalassemia.
This treatment gives you healthy red blood cells with normal hemoglobin.

Blood transfusions allow you to feel better, enjoy normal activities, and live into adulthood. This treatment
is lifesaving, but it's expensive and carries a risk of transmitting infections and viruses (for example,
hepatitis). However, the risk is very low in the United States because of careful blood screening.

Iron Chelation Therapy

The hemoglobin in red blood cells is an iron-rich protein. Thus, regular blood transfusions can lead to a
buildup of iron in the blood. This condition is called iron overload. It damages the liver, heart, and other
parts of the body.

To prevent this damage, doctors use iron chelation therapy to remove excess iron from the body. Two
medicines are used for iron chelation therapy.

 Deferoxamine is a liquid medicine that's given slowly under the skin, usually with a small portable
pump used overnight. This therapy takes time and can be mildly painful. Side effects include problems
with vision and hearing.

 Deferasirox is a pill taken once daily. Side effects include headache, nausea (feeling sick to the
stomach), vomiting, diarrhea, joint pain, and tiredness.

Folic Acid Supplements

Folic acid is a B vitamin that helps build healthy red blood cells. Your doctor may recommend folic acid
supplements in addition to treatment with blood transfusions and/or iron chelation therapy.

Other Treatments

Other treatments for thalassemia have been developed or are being tested, but they're used much less often.

Blood and Marrow Stem Cell Transplant

A blood and marrow stem cell transplant replaces faulty stem cells with healthy ones from another person (a
donor). Stem cells are the cells inside bone marrow that make red blood cells and other types of blood
cells.

A stem cell transplant is the only treatment that can cure thalassemia. But only a small number of people
who have severe thalassemia are able to find a good donor match and have the risky procedure.

Possible Future Treatments

Researchers are working to find new treatments for thalassemia. For example, it might be possible someday
to insert a normal hemoglobin gene into stem cells in bone marrow. This will allow people who have
thalassemia to make their own healthy red blood cells and hemoglobin.

Researchers also are studying ways to trigger a person's ability to make fetal hemoglobin after birth. This
type of hemoglobin is found in fetuses and newborns. After birth, the body switches to making adult
hemoglobin. Making more fetal hemoglobin might make up for the lack of healthy adult hemoglobin.

How Can Thalassemia Be Prevented?

You can’t prevent thalassemia because they’re inherited (passed from parents to children through genes).
However, prenatal tests can detect these blood disorders before birth.

Living With Thalassemia

Survival and quality of life have improved for people who have moderate or severe thalassemia. This is
because:

 More people are able to get blood transfusions now.

 Blood screening has reduced the number of infections from blood transfusions. Also, treatments
for other kinds of infections have improved.

 Iron chelation treatments are available that are easier for some people to take.

 Some people have been cured through blood and marrow stem cell transplants. Living with
thalassemia can be challenging, but several approaches can help you cope.
 Follow Your Treatment Plan
Following the treatment plan your doctor gives you is important. For example, get blood transfusions as
your doctor recommends, and take your iron chelation medicine as prescribed.

Iron chelation treatment can take time and be mildly painful. However, don't stop taking your medicine. The
leading cause of death among people who have thalassemia is heart disease caused by iron overload.
Iron buildup can damage your heart, liver, and other organs.

Take folic acid supplements if your doctor prescribes them. Folic acid is a B vitamin that helps build
healthy red blood cells. Also, talk with your doctor about whether you need other vitamin or mineral
supplements, such as vitamins A, C, or D or selenium.

Get Ongoing Medical Care

Keep your scheduled medical appointments, and get any tests that your doctor recommends. These tests
may include:

 Monthly complete blood counts and tests for blood iron levels every 3 months

 Yearly tests for heart function, liver function, and viral infections (for example, hepatitis B and C
and HIV)

 Yearly tests to check for iron buildup in your liver

 Yearly vision and hearing tests

 Regular checkups to make sure blood transfusions are working

 Other tests as needed (such as lung function tests, genetic tests, and tests to match your tissues
with a possible donor if a stem cell transplant is being considered)

Children who have thalassemia should receive yearly checkups to monitor their growth and development.
The checkups include a physical exam, including a height and weight check, and any necessary tests.
Take Steps To Stay Healthy

Take steps to stay as healthy as possible. Follow a healthy eating plan and your doctor's instructions for
taking iron supplements.
Get vaccinations as needed, especially if you've had your spleen removed. You may need vaccines for the
flu, pneumonia, hepatitis B, and meningitis. Your doctor will advise you about which vaccines you
need.

Watch for signs of infection (such as a fever) and take steps to lower your risk for infection (especially if
you've had your spleen removed). For example:

 Wash your hands often.

 Avoid crowds during cold and flu season.

 Keep the skin around the site where you get blood transfusions as clean as possible.

 Call your doctor if a fever develops.