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.

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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.