Thalassemia

Thalassemia






Thalassemia also known as Mediterranean anemia is a type of anemia inherited by birth. The body produces abnormal hemoglobin substance which results in destruction of red blood cells causing anemia.Hemoglobin normally has 4 protein counterparts namely 2 alpha globin and 2 beta globin. Two types of thalassemia are recognized. One is alpha thalassemia in which instead of 4 genes only 2 or 3 genes of alpha protein chain are available. This type of disorder creates anemia severely. In alpha variety there is one more type called alpha major thalassemia in which the affected baby will not survive after birth.

In the beta type of thalassemia, there is alteration of the two genes in the beta protein chain of red blood cells.

The intensity of the disease depends on the rate on which the genes are affected or lost in the cell. Thalassemia is seen in both males and females.

This disorder is entirely different from that of regular anemia (iron deficiency) in which the body may not have required amount of iron in blood to prepare hemoglobin. But in thalassemia, the genes are mutated or missing causing abnormal red blood cells.

Causes :

Thalessemia is hereditary and hence this disorder is inherited by birth. It is caused by the defective genes present in the alpha protein or beta globin of red blood cells. It is the genes (chromosomes) that determine the body shape, structure, color and trait. When these genes are missing or altered (mutated) it results in severe anemic condition.

Either one of the parent or both of them may have defective genes which is passed over to the offspring (child) causing mild to severe form of anemia.

Who are at Risk ?

People who have family history of thalassemia affected parents are prone to get this disorder. There is increased chance for the child to get thalassemia sooner or later in life.

People belonging to certain race like Greek, Italian, Southern Asian and Middle Eastern countries are at risk of getting this disorder.

Symptoms :

Some of the common signs of this disorder are severe anemia by birth which is reflected in various forms during the development stage of the child. There may be excess of fatigue and retarded growth of the child. For some children, there may be deformity in the bone structure and shape. In addition, shortness of breath is also observed in some children.

In severe case of major thalassemia (alpha type) the child may die soon after birth or it would cause stillbirth of the child. This is the worst type of thalassemia recognized. In case of cooley’s anemia the child may look normal at birth but will develop symptoms during his first or second year. The color of their skin may turn yellow causing Jaundice.

Some children with small sized red blood cells will not show any symptoms at all. They are called “silent carriers” of this disorder.

People born with beta intermediate thalassemia will not show any symptoms till puberty but it may cause delayed puberty for them. They may also have problems in bone development and will have bones that are fragile causing more fractures. Further there may be enlargement of Spleen indicating the body’s defense mechanism to fight against infection.

Diagnoses :

The medical practitioner will look at the symptoms for identifying the disorder in childhood. If needed, blood profile is taken for checking the condition of red blood cells.

Treatment :

Blood transfusion and iron chelation therapy are the two methods of treatment available for thalassemia. First the doctor will examine the intensity of the disorder and health condition of the patient. For children who are silent carriers without any symptoms, no treatment is required.

Moderate to severe types of thalassemia are managed with blood transfusion. A needle is inserted into the vein which directly connects into the blood vessel through which healthy blood is injected and the procedure may take up to 4 hours. The patient may need to repeat the transfusion regularly for having healthy blood cells.

People with beta thalassemia major will need transfusion of blood for every 2-3 weeks for staying healthy. For beta thalassemia intermediary blood transfusion is done in case the person falls sick or the anemia gets severe.

Iron chelation therapy is done to remove the extra iron content from the body, because frequent blood transfusion may cause excess of iron in blood. Deferoxamine or deferasirox is given for removing the extra iron from the blood.

Thalassemia – Symptoms, Causes and Treatment

Thalassemia – Symptoms, Causes and Treatment

What is Thalassemia?

This is a genetic condition of the blood which is categorized by little hemoglobin as well as less cells of red blood in the body than is considered normal. Different kinds of thalassemia occur and they consist of:

Beta-thalassemia

Alpha-thalassemia

Mediterranean anemia

Cooley’s anemia as well as Mediterranean anemia

In red cells, hemoglobin is the element that permits them to transport oxygen. The small amount of hemoglobin as well as the less red cells of this condition can cause anemia that leaves the individual very tired.

If an individual has thalassemia which is mild, it may not be necessary to be treated. But, if there is a more serious type of thalassemia, the individual might need consistent transfusions. Individuals may take measures on their own to learn to manage the exhaustion for example eating a diet that is healthy as well as regularly exercising.

Thalassemia Symptoms

The symptoms and signs of thalassemia comprise:

• Weakness


• Fatigue


• Looks pale


• Jaundice skin


• Irritability


• Slow growth


• Deformities of facial bone


• Dark urine


• Abdominal swelling

The symptoms as well as the signs that are experienced are contingent on the severity and type of thalassemia that an individual has. Many babies show symptoms and signs of thalassemia immediately upon birth, whereas other individuals can develop symptoms or signs thru the first few years of life. There are some individuals who only have one hemoglobin gene which is affected and therefore does not involve any symptoms of the condition.

Thalassemia Causes

This blood condition is initiated by DNA cell mutations that produce hemoglobin – the material in red cells which transports oxygen thru out the body. These mutations linked with thalassemia are distributed to children from parents.

The mutations which create thalassemia interrupt the normal creation of hemoglobin as well as causes little hemoglobin levels and a high rate of red cell devastation, initiating anemia. An individual with anemia has blood that does not have sufficient red cells to transport oxygen to the tissues and this leaves the individual very fatigued.

Types of Thalassemia

Kinds of thalassemia that an individual has is contingent on the amount of mutated genes that were inherited from parents as well as what portion of the molecule of hemoglobin is digressed by those types of mutations. The more genes that are mutated the more serious is the thalassemia. Molecules of hemoglobin consist of beta and alpha parts that are affected by mutations.

You're reading Thalassemia – Symptoms, Causes and Treatment posted by minhhai2d, the information is for reference only.

Alpha Thalassemia
4 genes are linked in building the hemoglobin alpha chain. The individual gets 2 from each parent. When an individual inherits:

• 1 mutated gene, the individual has no symptoms or signs of thalassemia. Nevertheless the individual will become a carrier for this disease and may pass it to offspring.


• 2 mutated genes, the signs of and symptoms of thalassemia are normally mild. This illness can be termed “alpha thalassemia minor” or the individual can be told that they have an “alpha thalassemia” trait.


• 3 mutated genes, the symptoms and signs can be moderate to severe. This disorder is also termed “hemoglobin H” disease.


• 4 mutated genes, the disorder is known as “alpha thalassemia major” or hydrops fetalis. Typically this causes the fetus to die prior to delivery or a newborn to expire soon after birth.

Beta Thalassemia
2 genes are intricate in building the hemoglobin beta chain. An individual gets 1 from each parent. If inherited:

• 1 mutated gene, the individual will has symptoms and signs which are mild. This disorder is entitled “beta thalassemia minor” or “beta thalassemia trait.”


• 2 mutated genes, the symptoms and signs will be moderate to serious. This disorder is entitled “beta thalassemia major”. Babies who are born with 2 “beta hemoglobin” genes which are defective typically are born healthy but develop the symptoms and signs in the first 2 years of life.

Thalassemia Treatment

The treatment for thalassemia normally depends on which kind the individual has and how severe the condition is.

Treatment for mild thalassemia
Symptoms and signs of normally mild with thalassemia minor and there is little treatment which is needed. At times, the individual may need a blood transfusion, especially after any surgery, after giving birth or in order to help manage any thalassemia complications.

Treatment for moderate to severe thalassemia
The treatments for moderate to severe thalassemia can include:

Frequent blood transfusions
More severe forms of thalassemia often needs frequent blood transfusion, possibly as often as every few weeks. Over time, blood transfusions will cause a buildup of iron in the blood, which damages the liver, heart as well as other organs. To help the body get rid of this extra iron, the individual may need to take drugs to rid the body of any extra iron.

Stem cell transplant
This is also called bone marrow transplant – a stem cell transplant can be used to treat severe thalassemia in some cases. Prior to a stem cell transplant, the individual receives very high doses of radiation or drugs to destroy the bone marrow which is diseased. Then the individual receives infusions of stem cells from a donor who is compatible. But, because these procedures have some serious risks, including death, they are generally reserved only for individuals with the more severe disease and who have a well-matched donor readily available – usually a sibling.