TREATMENTS OF THALASSEMIA

(by Nor Maisarah binti Nor Azni, Norzamzarina, Nor Jamilah and Nurul Hamizah, in fullfillment of BEL 492, BBA (hons.) Finance, UiTM Bandaraya Melaka)

GENERAL PURPOSE

The general purpose of this assignment is to inform about Thalassemia. It is a type of disease that we have not pay attention before. However, the increasing number of death cause by this disease has increased due to little information about this disease. Many people think that Thalassemia is the same as Leukemia and Anemia. Even all these diseases are related to blood, Thalassemia actually reflects more on the low ability of one’s body to produce hemoglobin (blood element that produces oxygen and nutrient). As to inform about the overview of the assignment, we are going to discuss about the definition of Thalassemia itself. According to Wikipedia, Thalassemia can be defined as a disease that is related to genetic blood disorder. It is an inheritance disease that has no cure. There are two types of Thalassemia which are Thalassemia Alpha and Thalassemia Beta. There are symptoms that can be seen in a Thalassema patient such as weakness, fatigue, lightheadedness. By having an earlier diagnosed of this disease, it can help the patient to choose the best treatment. Therefore, the life expectancy of a patient could be longer and they will produce a better quality of life.

SPECIFIC PURPOSE

The specific purpose of this assignment is about the treatments for thalessemia. Thalassemia cannot be cured but there are some treatment that can help thalassemic’s to have a longer life expectancy.

There are several types of treatment for thalassemia. There are:

Blood Transfusion
Bone-marrow transplantation
Splenectomy (removing the spleen)
Desferal treatment

CENTRAL IDEA

The central idea of this assignment is to inform about:

a) Definition of Thalassemia

b) Types of Thalassemia

c) Inheritance of Thalassemia

d) Symptoms of Thalassemia

MAIN IDEA

The main idea of this assignment is to inform about the best treatment of Thalassemia. Although the disease has no cure, having treatment earlier will help the patient a lot.

INTRODUCTION

What is Thalassemia?

Thalassemia is a genetic blood disorder that affects person’s ability to produce hemoglobin. Hemoglobin is the protein in our red blood cells that carry oxygen and nutrients to all parts of the body. Without it, our bodies become weak and unable to thrive a genetic disease.[1] Actually, the word of thalassemia is come from Greek word which means “anemia by the sea”. The thalassemias have a distribution concomitant with areas where P. falciparum malaria is common.[2] The thalassemias (2 forms) are among the commonest inherited blood diseases in the world. Over the centuries they must have accounted for the death of many millions of children.

A difficult question perhaps might be the life expectancy, but Thalassemia patient and their families must be aware of this subject. The illness and its implications are changing almost from day to day, due to advances in treatment. With timely and correct treatment, Thalassemia patient live longer and healthier now. It is reasonable to think that people with Thalassemia, well treated from the beginning, may live as long as people without Thalassemia, mean an excellent life-expectancy.

TYPES OF THALASSEMIA

There are two main types of the disease which are called :

1) Alpha Thalassemia

2) Beta Thalassemia

The alpha thalassemia are concentrated in Southeast Asia, Malaysia, and southern China. While the beta thalassemias are seen primarily in the areas surrounding Mediterranean Sea, Africa and Southeast Asia.[3] Beta is the most common form. A "carrier" has one normal gene and one thalassemia gene in all body cells, a state sometimes called "thalassemia trait." Most carriers lead completely normal, healthy lives.[4]

There are also three clinically significant types:
1) Thalassemia minor

2) Thalassemia intermedia

3) Thalassemia major.

Thalassemia minor, also called Thalassemia trait may cause no symptoms, but changes in the blood do occur. A person with Thalassemia minor generally has

no health problems excepting a possible mild anemia, which cannot be corrected with iron supplements.

Thalassemia intermedia, also called mild Cooley’s anemia is an intermediate form of the disease. Thalassemia intermedia is a clinical condition that varies and must be constantly evaluated by the hematologist. No two people with Thalassemia intermedia are the same.

Thalassemia major, also called Mediterranean anemia or Cooley’s anemia, named after the doctor who first described it in 1925) is the most
severe form. Thalassemia major is very serious and requires extensive medical care.[5]

Alpha Talassemia

Alpha thalassemia occurs when one or more of the four genes that are vital to making hemoglobin are missing or damaged. Alpha thalassemia mainly affects people from Southeast Asia, China, and the Philippines, although it occurs in many populations throughout the world. It is sometimes seen in people of African descent. [6]

There are four subtypes of alpha thalassemia. Each type represents the loss of or damage to one, two, three, or four genes.

One gene: If one alpha-globin gene is missing or damaged, you will have no symptoms and will not need treatment. However, you are a silent carrier. This means you don't have the disease but you can pass the defective gene onto your child. Smaller-than-normal blood cells may be the only sign of the condition.

Two genes: If two alpha-globin genes are missing or damaged, you will have very mild anemia that will not need treatment. This is known as alpha thalassemia minor or alpha thalassemia trait.

Three genes: If three alpha-globin genes are missing, you will have mild to moderately severe anemia. This is sometimes called hemoglobin H disease, because it produces heavy hemoglobin.[7]

The body removes this heavy hemoglobin faster than it does normal hemoglobin. The more severe forms may need treatment with blood transfusions.

Four genes: If all four alpha-globin genes are missing (alpha thalassemia major), the fetus will be stillborn or the child will die shortly after birth. The hemoglobin produced by this condition is sometimes called hemoglobin Barts. [8]

Beta Thalassemia

Beta thalassemia occurs when one or both of the genes that produce beta-globin do not work or only partly work the way they should. People need both alpha- and beta-globin to make hemoglobin. Beta thalassemia mainly affects people from the region around the Mediterranean Sea (such as Greeks and Italians) and, less often, people of African or Asian descent.[9]

There are several subtypes of beta thalassemia. The types depend upon whether one or both genes are affected and whether those genes still produce some working beta-globin.

If one carry the genetic trait for thalassemia or have one damaged beta- globin gene, he may have mild anemia and probably will not need treatment. This condition is called beta thalassemia minor or beta thalassemia trait. He has thalassemia trait when he inherit a normal gene from one parent and a thalassemia gene from the other. [10]

When both beta-globin genes are damaged, moderate or severe anemia may develop. In this situation, he has inherited a thalassemia gene from each parent.

If he has moderate anemia (beta thalassemia intermedia), he may need blood transfusion. People who have beta thalassemia intermedia usually live into adulthood.

People with severe anemia (called beta thalassemia major or Cooley's anemia) usually will not live into adulthood without treatment. Symptoms of anemia usually develop within 6 months of birth.¹ If the child starts receiving blood transfusions early and continues to receive them throughout life, he or she is likely to live longer. Death is usually a result of damage to organs, such as the heart or liver. Lack of oxygen or iron overload from blood transfusions causes the organ damage.[11]

INHERITANCE OF TALASSEMIA

Α (alpha) and β (beta) thalassemia are often inherited in an autosomal recessive fashion although this is not always the case. For the autosomal recessive forms of the disease both parents must be carriers in order for a child to be affected. If both parents carry a hemoglobinopathy trait, there is a 25% chance with each pregnancy for an affected child. As with other genetically acquired disorders, aggressive birth screening and genetic counseling is recommended.

SYMPTOMS OF THALASSEMIA

Mild thalassemia usually does not cause any symptoms. However, symptoms of anemia may develop in more severe forms of the condition and may include:[12]

· Weakness.

· Fatigue.

· Lightheadedness.

· Skin that looks paler than normal.

· Jaundice (skin and whites of eyes appear yellow).

· Dark urine.

· Decreased appetite and weight loss (poor growth in a child).

· Rapid heartbeat.

· Shortness of breath during exercise.

HOW IS THALASSEMIA DIAGNOSED?

A physical exam and complete medical history are usually the first steps in diagnosing thalassemia. Tests that help confirm a diagnosis of thalassemia include:

1) Complete blood count (CBC) and blood smear.

2) Gene test

3) Iron level test, to determine whether iron deficiency anemia is present.

4) Blood test that measures the amounts of different types of hemoglobin (hemoglobin electrophoresis), to help find out which type of thalassemia you have.

5) A complete blood count (CBC) test on other members of your family parents and siblings), to discover whether they may also have thalassemia.

TREATMENTS FOR THALESSEMIA

Thalassemia cannot be cured. However, there are some treatments that can help the thalassemia patient to have a longer life expectancy.

1. Blood Transfusion

Blood Transfusion is one of the most regularly practiced treatments for Thalassemia. The transfusion is done for red blood cells only. These transfusions are necessary to provide the patient with a temporary supply of healthy red blood cells with normal hemoglobin capable of carrying the oxygen that the patient's body needs.

Today, most patients with a major form of Thalassemia receive red blood cell transfusions every two to three weeks. There are three reasons for blood transfusions.

a. To correct anemia and make sure that tissues get a normal

amount of oxygen. This allows thalassemia patient to live and

grow normally.
b. To let the bone marrow rest, so that the bones can develop

normally and do not get deformed.
c. To slow down or prevent any increase in the size of spleen.

2. Bone-marrow transplant

It is due to Thalassemia’s patient bone marrow is not able to make a normal amount of red blood cells. If the malfunctioning bone marrow can be replaced with a normal bone marrow, this problem is solved. At present, only young people with a fully compatible donor can have a bone-marrow transplant.

Bone Marrow Transplantation also synonym with stem cell transplantation, cord blood transplantation, allergenic bone marrow transplantation, umbilical cord blood, peripheral blood stem cells and human leukocyte antigen

The advantages of the bone marrow transplantation are :

1. This treatment include a shorter time to procure

2. In other hand, there is fewer issue with Graft Versus Host

Disease (GVHD).

3. For this treatment, it only a smaller number of cells needed to obtain engraftment.

However, there are also several of disadvantages in using this treatment

1. The small number of cells collected in each unit typically limits of the recipients

2. Fewer cell are needed per kilogram of weight

3. A larger percentage of primitive cells exist in cord blood than

in bone marrow.

4. High cost of operation

3. Splenectomy (removing the spleen)

When the spleen becomes too active and starts to destroy the red blood cell, transfusions become lesser and less effective.Then it may become necessary to take the spleen out through surgery. This operation is called "Splenectomy".

The spleen is removed by using laparoscopic surgery. It is useful when the spleen is not too large or when the procedure is elective. The operation is performing under general anesthesia.

As we are talking about the side effects of this operation, many found that the risk of having overwhelming is high. The new spleen might not be function normally due to factor like bacteria. It is very dangerous as it has potential to cause fatal septicemia.

4. Desferal treatment

Blood transfusions bring extra iron into the body and if transfusions are regular, iron gradually accumulates in the body. It is stored in certain organs, especially the liver, the heart, and the endocrine glands. The iron behaves like a foreign body, and in the end would damage the organs where it is deposited. Fortunately, there are drugs that help the drainage of iron out of the body. The medication used very regularly is Desferrioxamine, more commonly called ‘Desferal’. Desferal keeps the amount of iron under a safe level in a Thalassemic’s body.

CONCLUSION

Thalassemia is a disease that seems not dangerous. Many people either carrier or affected by thalassemia looks healthy and normal as others. However, without earlier diagnose of this disease, it will cause to death. Thalassemia is a inheritance disease where if any parents have trait as carrier or affected, their children will have high probability of being affected too. Different types of thalassemia lead to different condition of the patient such as the most severe thalassemia; Thalassemia Beta Major that will cause death. By detecting the symptoms and having diagnosed at the earlier stage, the expectancy of life of the patient will be longer.Unfortunately, thalassemia have no cure. Some ways to treat thalassemia are by blood transfusion, bone-marrow transplantion, spelectomy and desferal treatment. Hopefully, thalassemia patient will have a better quality of life and able to live as happy and healthy as other normal people.

REFERENCES