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Beta-thalassemia -- Introduction

It is an inherited condition affecting the blood. There are different types, which vary from a mild condition with no
symptoms, to a serious or life-threatening condition. For the more severe forms of thalassaemia, modern
treatment gives a good outlook, but lifelong monitoring and treatment are needed. Good treatment is important
to prevent complications developing. Thalassaemia is most common in people whose family origins are
Mediterranean or Asian. It can be diagnosed from a blood test. Pregnant women and couples planning a family are
advised to have a test for thalassaemia, because early diagnosis can be helpful. In England, all pregnant women
and newborn babies are now offered a thalassaemia test, but you can ask for a test before you become pregnant.
How is thalassaemia diagnosed?
The diagnosis is made by a blood test. The blood sample is analysed to see what type of haemoglobin is
present in the blood.
In some cases, extra tests such as DNA (genetic) tests are needed to diagnose the exact type of
thalassaemia. It may help to test other family members where possible.
Thalassaemia trait may be suspected from the results of an ordinary blood test called a 'full blood count'.
If the result shows red blood cells that are smaller and paler than usual, this may be due to iron deficiency
or to thalassaemia trait.
-In most cases, beta thalassemia is diagnosed before a child's second birthday. Children with beta thalassemia
major may have a swollen abdomen or symptoms of anemia or failure to thrive.
-If the doctor suspects beta thalassemia, he or she will take a blood sample for testing. Blood tests can reveal
red blood cells that are pale, varied in shape and size, or smaller than normal. They also can detect low red
blood cell counts and cells with an uneven distribution of hemoglobin, which causes them to look like a bull's-
eye when seen through a microscope.
Blood tests also can measure the amount of iron in the blood, evaluate hemoglobin, and test a child's DNA for
abnormal hemoglobin genes.
If both parents are carriers of the beta thalassemia disorder, doctors can conduct tests on a fetus before birth.
This is done through either:
a.chorionic vilius sampling, which takes place about 11 weeks into pregnancy and involves removing a tiny
piece of the placenta for testing
b.amniocentesis, which is usually done about 16 weeks into the pregnancy and involves removing a sample of
the fluid that surrounds the fetus
Can thalassaemia be cured?
A possible cure is a 'stem cell transplant'. This means either a bone marrow transplant, or a cord blood
transplant. These treatments take normal blood-making cells from a donor, and give them to the person
with thalassaemia. If the transplant is successful, these cells last for life and make normal haemoglobin - a
lifelong cure. However, a stem cell transplant is not suitable for everyone. You need a suitable donor, and
there are some serious risks involved.
How is BTM treated?
There are two main treatments: blood transfusions and chelation treatment.
Blood transfusions are started if you (or your child) have anaemia plus other symptoms, such as poor growth,
not feeding well or other problems. If you only have anaemia and are otherwise doing well, your doctor may
advise just monitoring the situation for a time. This is because some people thought to have BTM turn out to
have the milder condition of BTI, and may not need transfusions.
Chelation treatment is important, to remove iron from the body. With thalassaemia, the body gets overloaded
with iron. This is partly from blood transfusions, and also because the thalassaemia itself makes the body
absorb more iron from food. If the excess iron is not removed, it can damage internal organs and cause
complications. Chelation helps the body get rid of excess iron. This treatment is really important for
preventing complications.
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-The amount of treatment that beta thalassemia requires depends on how severe the symptoms are. For most
children with beta thalassemia trait, whose only symptom may be mild anemia from time to time, no medical
treatment will be necessary.
-Some children with moderate anemia may require an occasional blood transfusion, particularly after surgery.
Those with severe cases of beta thalassemia major, on the other hand, may require regular blood transfusions
their entire lives to keep them healthy. During blood transfusions, they're given blood from donors with matching
blood types. Over time, this can cause a build-up of iron in the body, so kids who receive frequent blood
transfusions may have to take medications to remove excess iron from their bodies
Research into treating beta thalassemia with experimental gene therapies is ongoing, but for now it can only be
cured by a procedure called a bone marrow transplant. Bone marrow, which is found inside bones, produces blood
cells. In a bone marrow transplant, children are first given high doses of radiation or drugs to destroy the defective
bone marrow. The bone marrow is then replaced with cells from a compatible donor, usually a healthy sibling or
other relative. Bone marrow transplants carry many risks, so they usually are done only in the most severe cases of

If untreated, symptoms of BTM start at around age 4-6 months. Symptoms come on gradually and are:
Symptoms of anaemia - the baby may be pale, lethargic, not feeding or growing well, and prone to infections.
Bone symptoms - the body tries to produce more red blood cells. This is a natural reaction to anaemia.
However, it does not help thalassaemia much because most of the haemoglobin that is produced is abnormal.
The result is over-expansion of the bone marrow, which is the body's blood cell factory. This affects bone
growth including the face and jaw bones, making the forehead and upper jaw very prominent.
Without treatment, symptoms of BTM get gradually worse. Untreated, children with BTM usually die from
infection or heart failure in childhood.
Symptoms ( )
The signs and symptoms of beta thalassemia vary depending on the type that a child has and how severe it is.
Most children with beta thalassemia trait have no symptoms. Those with beta thalassemia major and
intermedia may not show any symptoms at birth, but usually develop them in the first 2 years of life.
Some of the more common symptoms of beta thalassemia include:
fatigue, weakness, or shortness of breath
a pale appearance or a yellow color to the skin (jaundice)
deformities of the facial bones
slow growth
a swollen abdomen
dark urine
Complications ( )
Beta thalassemia major and intermedia can lead to serious complications, especially if untreated. Complications of
beta thalassemia major include:
-Excess iron. Kids who have beta thalassemia can end up with too much iron in their bodies, either from the
disease itself or from getting repeated blood transfusions. Excess iron can cause damage to the heart, liver, and
endocrine system.
-Bone deformities and broken bones. Beta thalassemia can cause bone marrow to expand, making bones wider,
thinner, and more brittle. This makes bones more likely to break and can lead to abnormal bone structure,
particularly in the bones of the face and skull.
-Enlarged spleen. The spleen helps fight off infections and filters out unwanted materials, such as dead or
damaged blood cells, from the body. Beta thalassemia can cause red blood cells to die off at a faster rate, making
the spleen work harder, which makes it grow larger. A large spleen can make anemia worse and may need to be
removed if it gets too big.
-Infections. Children with beta thalassemia have a higher risk of infection, especially if they've had their spleens
-Slower growth rates. The anemia resulting from beta thalassemia can cause children to grow more slowly and
also can lead to delayed puberty.
The disorder -thalassemia, also known as Cooley's anemia, is caused when a patient cannot produce enough
of the -globin component of haemoglobin, the protein used by red blood cells to carry oxygen around the body.
The lack of -globin causes life threatening anemia, leading to severe damage of the body's major organs. The
condition is most commonly found in Mediterranean, Middle Eastern and Asian populations.
Diseases of the blood are good targets for gene therapy because it is possible to harvest stem cells from the
patient's bone marrow. The team developed a tool to deliver the correct gene for -globin into these harvested
cells, a viral vector they called GLOBE.
The cells can then be genetically modified with GLOBE to restore hemoglobin production before being re-
administered back into the patient via intravenous injections. The important focus of this work was not only to
show that GLOBE can restore haemoglobin production in human cells, but that this genetic transfer-based
approach does not impair the biological features of the cells and is not associated with any intrinsic risk for the
human genome.
This research is not only crucial for developing a cure for one disease, but as Dr David Williams from the
Harvard Medical School says, it may advance the entire discipline of gene therapy research
"This work represents the kind of translational studies that are required to move human investigations forward
but are often difficult to fund and publish," said Williams. "Considering the inherent difficulties accompanying
human research, studies like those reported in EMBO Molecular Medicine are extremely important for moving the
field forward." As the Milan based team can now correct the defective production of beta-globin in patients' blood
cells the next step will be to place the corrected cells back into the patient, a step which has already proven
successful in mice.

Path: To understand how thalassemia affects the humanbody, you must first understand a little about
blood. Blood carries oxygen from your lungs to other parts of your body. Oxygen is carried by a protein
called hemoglobin found inside the red blood cells. Hemoglobin is made of two different kinds of proteins,
called alpha and beta globins. Beta globin is made by two genes, one passed on tothe baby from each
parent. Individuals who have one abnormal beta globin gene have beta thalassemia trait (also known as
beta thalassemia minor). A person with beta thalassemia trait (minor) simply carries the genetic trait for
beta thalassemia and will usually experience no health problems other than a mild anemia.
Physicians often mistake the small red blood cells of the person with beta thalassemia minor as a sign of
iron deficiency anemia and incorrectly prescribe iron supplements that will not help the anemia. If you are
tested for beta thalassemia trait and are found to be a trait carrier, your spouse should also be tested for
beta thalassemia trait.

If both parents carry the beta thalassemia traitthen there is a 25% chance with each pregnancy that
their child will inherit two abnormal beta globin genes. In its most severe form, this may cause beta
thalassemia major or Cooleys anemia, a severe blood disorder that causes a life-threatening anemia that
requires regular blood transfusions and extensive ongoing medical care. The inheritance of two abnormal
beta globin genes may also cause beta thalassemia intermedia, a moderately severe anemia with
significant health problems including bone deformities and enlargement of the spleen.
How is thalassaemia inherited?
A child inherits haemoglobin genes from both parents. For example, if both parents have beta thalassaemia trait,
there is: a 1 in 4 chance of the child having normal haemoglobin genes; a 1 in 2 chance of the child having beta
thalassaemia trait; and a 1 in 4 chance the child will have BTM or BTI.
Depending which type you have, thalassaemia may cause no illness at all, or may be a serious lifelong condition
requiring treatment.