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Thalassemia is an inherited autosomal recessive blood disease. In thalassemia, the

genetic defect results in reduced rate of synthesis of one of the globin chain that make up
hemoglobin. Reduced synthesis of one of the globin chain causes the formation of
abnormal haemoglobin molecules, and this causes anemia which is one of the symptoms
for thalassemia. Less production of one or more globin protein, often through mutations
in regulatory genes will result thalassemia.

After considering the condition of Ai Leen and the symptoms that she is going through,
Ai Leen who is 18 months old is diagnosed to suffer Thalassemia intermediate. From the
laboratory tests that had been done to Ai Leen, we found that she is anemic. The complete
blood count which is 6.7 hbg / 20 hct proves that she suffers anemia. Her count for MCV
is 62 which are very low compared to the normal count for 18 months baby which is
between 80 to 100. We also found that Ai Leen red blood cell structures are microtic,
hypochomic and poikilocytes. Microtic means the red blood cell is abnormally small in
size. Hypochomic is defined as the red blood cell is very pale and poikilocytes means that
the red blood cells are in different shapes and sizes. Besides that, we found that some red
cells are large and slightly gray-blue. This shows that Ai Leen’s red blood cells are lack
of hemoglobin causing Ai Leen’s body cells lack of oxygen. We can consider that her red
blood cell is polychromatophilic. For Ai Leen’s the white blood cell (WBC) count which
is 22,000 /ul is very high with occasional immature granulocytes. The normal WBC count
for 18 months baby girl is between 4,000 and 10,000. By using electrophoresis test, it is
found that she has 30% of HbF. HbF, hemoglobin F is one type of hemoglobin. This
percentage shows that Ai Leen suffers major thalassemia. From this test also we can
observe that Ai Leen’s body contains high concentration of serum iron and transferring

From physical examination, Ai Leen, an 18 months old baby girl has a weight of 5kg
and height 60 cm. We can say that she is underweight and her growth is very slow. We
found that Ai Leen has low blood pressure which is only 90/70 mmHg. She also has low
pulse count which is only 70. The pulse for a normal 18 years old baby is around 90 to
100. Ai Leen’s average body temperature is 37.9 Celsius. It is quite high than normal
person usually 37 Celsius. We also observed that she has yellow skin. The development
of yellow of skin and sclera in her eyes means that she suffers jaundice. She also has a
loss of appetite.

The red blood cell undergoes mutation. Both alleles have thalessemia mutation which
is beta globin has 2 alleles; this is a severe microtic, hypochromic and poikilocytes
causing a poor oxygen delivery to tissue which result dyspnea. There is a microcytic,
hypochromic anemia with target cells and Heinz bodies (precipitated of HbH) on the
peripherical blood smear, as well as splenomegaly (enlargement of spleen). This disease
may first be noticed in childhood. Children appear normal at birth. However, she/he will
slowly show signs of anemia, becoming severe when he/she reaches the age of between 3
and 18 months.

1. Based on the diagnosis, we know that Ai Leen is a Chinese Ancestry and both of
her parents are Thalassemia carrier. The hereditary diagram of Ai Leen’s family is
as follow:

2. The diagnosis also indicates that Ai Leen has all the symptoms that a Thalassemia
Major patient would have. Furthermore, according to the hereditary diagram,
there are 25% chances of the couple having a Thalassemia Major Child.
Therefore, it is concluded that Ai Leen suffers Thalassemia Major. From the
information gathered, we discovered that a person with Thalassemia Major
normally experiences a series of health illnesses, such as; Anemia, Splenomegaly
and Jaundice (referred to Bionity.com website).

(i) Anemia
A person suffering from anemia may reflect symptoms, such as lethargy (tired,
weak), poor appetite, failure to thrive (not developing well), shortness of breath
(dyspnea), irritability and heart failure. Most of the energy produced by the body
will be invested in the production of more red blood cells (RBC), as RBCs
hemolyse tremendously due to short life-span. This results in lack of energy for
physical activities and growth, resulting in lethargy and failure to thrive. The
condition is worsened as the appetite decreases. This leads to lack of nutrients,
which can be life-threatening for growing infants. They will be prone to diseases
and illnesses. Moreover, heart failure caused by accumulation of serum iron in
cardiac muscle (hemolysed RBC release iron into blood plasma), resulting in
malfunctioning of the heart which then leads to decrease in pulse and blood
pressure. As a result, less oxygen is reached to the cells, causing shortness in
breathing. Dyspnea also occurs due to inefficiency of the transfer of oxygen by
the defective RBCs (referred to Wikipedia webpage).

(ii) Splenomegaly
Splenomegaly means the enlargement of spleen. The main cause of the
enlargement of spleen is that spleen will tend to produce more RBCs as bone
marrow is unable to provide the body with enough RBCs(hemoglobin not present
in RBCs and deformations of RBCs). Besides, spleen still carries its function as
the centre of RBCs degradation. The extra task performed by the spleen causes
the spleen to be swallown. Besides, the recurrent internal infections cause the
increase of white blood cells (WBC), further increasing the size of the spleen.
This also causes the patient to have a mild fever (referred to Wikipedie webpage).

(iii) Jaundice
Jaundice, a yellowing of the skin and sclera of the eyes, is not a disease itself but
a symptom of an underlying disorder. The discoloration occurs when excessive
amounts of the body pigment bilirubin accumulate in the bloodstream. As the
RBCs hemolyse tremendously, large amount of bilirubin (end product of
hemoglobin degradation) are released into the blood plasma. The yellowing of the
skin and sclera of the eyes is caused by the yellow color of the bilirubin present
freely in the bloodstream (referred to Better Health Centre website).

3. Based on the diagnosis, symptoms reflected by Ai Leen and researches carried

out, we are sure to say that Ai Leen suffers from a Beta-Thalassemia Major (also
called Cooley's Anemia). Symptoms appear in the first two years of life and
include paleness of the skin, poor appetite, irritability, and failure to grow. Proper
treatment includes routine blood transfusions and other therapies (referred to
Bionity.com website).

Treatment of Thalassemia depends on the type and severity of the diseases.

Regarding Ai Leen case, she is classified as thalassemia major or Cooley’s anemia which
is a severe thalassemia and life-threatening illness. She is mostly recommended to be
treated with regular blood transfusions, iron chelation therapy, and bone marrow
transplants. Without treatment, she will not survive beyond childhood (Caterina

1) Blood Transfusions

The most common treatment for all major forms of thalassemia is red blood cell
transfusions. These transfusions are necessary to provide Ai Leen with temporary supply
of healthy red blood cells with normal hemoglobin capable of carrying the oxygen that Ai
Leen’s body needed (MediQuest, 2000).

In thalassemia treatment, blood transfusion is done on schedule (often every 2-4

weeks) to keep hemoglobin levels and red blood cell numbers at normal levels (Heart
Health, 2007). However, the right interval between transfusions may differ for different
patients. As child grows, more blood should be given ay each time. If the same amount of
bloods always given at each transfusion, obviously with time it became necessary to give
transfusion more often (Question About Blood Transfusion,n.d). The blood product to be
transfused is packed red blood cells, rendered leukocyte-free in order to avoid transfusion
reaction resulting from the development of antibodies to white blood cells in a process
known as sensitization (allergy) to white blood cells(Borgona,n.d).

Transfusion therapy, while life saving, is expensive a carries a risk of transmitting

viral and bacterial disease (for example hepatitis).However, transmission of these disease
is very rare indeed, because all blood donors are tested, and those who could pass on
infections are identified and avoided (Question About BloodTransfusion,n.d).
Transfusions also lead to iron overload.

2) Iron Overload

There is no natural way for the body to eliminate iron, the iron in the transfused
blood cells builds up in a condition known as ‘iron overload’ and becomes toxic to tissues
and organs particularly the liver,heart, and endocrine glands. It can caused liver cirrhosis,
cardiac damage, diabetes mellitus, delay in sexual development for children, and also
hyperpigmentation of skin(Harvard Edu,n.d).Without treatment, iron overload typically
results in the patient’s early death from organ failure(MediQuest, 2000).

3) Chelation Therapy

In order to remove excess iron, patients undergo ‘iron chelation therapy’, in which
a drug is introduce into the body and binds with excess iron and removes it through the
urine or stool(MediQuest,2000). The medicine, deferoxamine work best when given
slowly under the skin, usually with a small portable pump overnight.A needle is attached
to a small battery-operated infusion pump and worn under skin of stomach or legs five to
seven times a week for up to twelve hours (Thalassemia,n.d).This drug has been shown
to promote normal growth and sexual development and to increase patient’s
lifespan(Heart Health,2007). However, it also have side effects such as vision damage
and hearing loss on long-term iron chelation therapy(Gale Encyclopedia of
Medicine,1995).Moreover, desferroxomine chelate a small amount of the calcium that is
necessary for the production of new bone. Over the years, a very low rate of mineral
scavenging of from bone by desferroxomine could contribute to osteoporosis (Harvard
Edu,n.d). This therapy is demanding and sometimes is mildly painful, so some people
stop chelation therapy. If they do not access to another chelating option, this is extremely
dangerous. Lack of compliance with chelation therapy lead to accelerated health
problems and early death (Heart Health, 2007).

Fortunately, in November 2005, the FDA approved an oral chelator, Exjade. This
is a pill which is dissolve in water or juice and drunk once a day.Many patient now have
an option in term of chelators, and it is hoped that more options will become available in
the coming years(MediQuest,2000).

Several self-cares have to be taken:

1. Avoid excess iron. Unless recommended by doctors, don’t take vitamins or other
supplements that contain iron.
2. Eat a healthy diet. Eating a well balance diet that contains plenty of nutritious
foods can help you fell better and boost your energy. Your doctor may also
recommend you to take a folic acid supplement to help your body make new red
blood cells.
3. Avoid infections. Protect yourself from infections with frequent hand washing and
by avoiding sick people. You should also get a flu shot every year and the
pneumoccocal vaccine to prevent infections. If you develop a fever or other signs
or symptoms of an infection, see your doctor for treatment.

4) Unrelated Hematopoietic Stem Cells Transplantation

Another treatment that is applicable to Ai Leen is stem cell transplantation. Stem

cells are immature cells that have not yet been specialized. They are basic building blocks
or 'master cells' that can change into other types of cells that form organs, muscles, skin,
bone, nerves and blood.

Stem cells are usually taken from bone marrow and umbilical cord. Recently,
there is a transplantation using peripheral blood. In bone marrow transplantation (BMT),
chemotherapy is used to kill the patent’s stem cells in the bone marrow. The patient’s own
stem cells are then replaced with healthy stem cells from a compatible donor. The
successful result determines the beginning of the transplanted blood stem cells in the
bone marrow in making the normal blood cells. Mixed chimerism, which the patient’s
own thalassemic stem cells are not entirely eliminated but exist alongside of the
transplanted “healthy” stem cells, is an alternate approach to BMT. This approach
significantly reduces some of the risks associated with BMT.

Umbilical cord transplantation is another option means of transplanting healthy

stem cells into the thalassemia patient’s body. Cord blood is taken from the umbical cord
and placenta immediately following birth and then frozen and stored at a cord blood
center for later use in stem cells transplantation. The advantage of umbilical cord
transplantation is that it does not have to be a perfect genetic match.

The donors of these stem cells are usually from the patient’s siblings who have
genetically matched (human leukocyte antigen or HLA-match). However, majority of
thalassemia patients do not have sibling. If they have, only a quarter from them has HLA-
identical siblings, and the rests of these siblings themselves have thalassemia major. For
Ai Leen’s case, the next best option is using the unrelated hematopoietic stem cells which
the stem cells are taken from the volunteer donor who has almost perfect HLA-identical
with the patient.

The Singapore Medical Centers, there is a report stated that they have recounted
two successful cases of unrelated hematopoietic stem cells transplantations in thalassemia
major. There has been a previous report of unrelated bone marrow transplants for this
disorder. Their report somehow has shown that unrelated peripheral blood and unrelated
umbilical cord transplants are also feasible. The source of the stem cells can be getting at
The National Marrow Donor Program (NMDP) registry. It lists 1.6 million volunteer
donors. While for the umbilical cord, it could be getting at The Cord Blood Center at
Children’s Hospital Oakland.

This treatment is best recommended to treat Ai Leen since someway the

consistent delivery of chelation is difficult to achieve and expensive. Patient compliance
with the chelation regimen is frequently poor, and transfusion therapy is somehow limited
by the availability of “clean” blood in many developing countries. Furthermore, a normal
life span has not been achieved with hyper-transfusion and chelation (most of them only
survive up to 16years old).

5) Gene Therapy

Unlike the different forms of stem cell transplantation that attempt to correct
thalassemia by replacing the patient's stem cells with healthy ones from a donor, gene
therapy (also known as gene replacement therapy) attempts to "fix" the patient's own
stem cells by replacing defective genes with normal ones.

To correct transfusion-dependent anemia in thalassemia, the objective of gene

therapy is to insert a normal beta globin gene into the patient's stem cells, thus allowing
for increased production of beta globin and the production of healthy red blood cells.

Gene therapy is still far from being applied to human subjects in a clinical setting.
Before gene therapy can become a practical reality for thalassemia patients, researchers
must first overcome some difficult challenges.

6) Undergo Genetic Counseling

By counseling, they will be advised by the genetic counselor who will explain to
them about the consequences and nature of the disease, the probability of developing and
transmitting the disease and the options open to them in management and family planning
in order to prevent, avoid or ameliorate it (from Wikipedia).

7) Better don’t have Child

Considering that both of them are carriers, the possibility of getting an unaffected,
normal child without carrying defect genes is too small which is only 25%. Therefore,
they are recommended not to have any child, instead, they can adopt child as other
alternative for them to have child.

Although they have 50% possibility to get an unaffected, normal child yet a
carrier for Beta (β) Thalassemia, the child that they will have will continuously inherit the
defect gene to the next generation and this chain of inheritance one day will produce a
similar child like Ai Leen that will suffer this chronic, no-cured disease.

Though there is other alternative, that is prenatal diagnosis; a diagnosis of a

disease or condition in a fetus embryo before it is born, this diagnosis have it own risk to
the mother and also to the fetus. Moreover, if a genetic disease is detected, there is no
treatment that can help the fetus until it is born (from Wikipedia). The parents can
consider about abortion, but in Islam, abortion is forbidden to us as Muslims because in
abortion, we are dealing about killing a life which has Allah gifted to the fetus. Therefore,
instead of killing, we must appreciate it.


Lecturer’s Name:
Madam Kamaril Azlah

Prepared by:

Fatin Bazlina bt. Kamarulzaman Hassan 064462

Raheela Banu bt. Mohamad Asharaf 064517
Raihana bt. Razali 064519
Shabana bt. Khadmudin 064418
Siti Sarah bt. Ilias 064525
Syarifah Radhiyah bt. Salimin 064527
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