What is Thalassemia?

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Thalassemia

This is a blood disease that can be inherited or passed down by the parents to their offsprings. This congenital blood disease pertains to the production of abnormal hemoglobin in the body or the inability of the body to produce healthy hemoglobin. The cause of Thalassemia is either the absence of the key gene fragments or certain mutations in the DNA of the cells that produce the hemoglobin.

Hemoglobin is an important component of blood. It is the protein molecule in the red blood cells responsible for the transport of oxygen from the lungs to the other tissues in the body and returns the carbon dioxide from the tissues back to the lungs for exhalation. The inadequate production of normal hemoglobin causes significant damage to red blood cells resulting in anemia.

Anemia, on the other hand, is a blood condition wherein the person lacks an adequate supply of healthy red blood cells due to low levels of normal hemoglobin. Anemia in Thalassemia condition may range from mild to severe. And this condition may also lead to other serious complications in the long run.

Types of Thalassemia

Thalassemia has three main types and four subtypes, namely:

1. Alpha Thalassemia

Alpha Thalassemia is a serious form of the disorder. This occurs when there’s an abnormality in one of the alpha globin genes. The alpha globin is made up of four genes, two from each parent. A person with Alpha Thalassemia may not show signs and symptoms, but only mild anemia.

Alpha Thalassemia consists of two serious subtypes:

  • Hemoglobin H

When the three alpha globin genes are missing or when there are alterations in these genes, the Hemoglobin H will develop. This subtype of Alpha Thalassemia may lead to bone disorders. With Hemoglobin H, a noticeable abnormal growth of the forehead, cheeks, and jaw may be observed. In addition, Hemoglobin H may cause malnourishment, jaundice, and an extremely enlarged spleen.

  • Hydrops Fetalis

This is an extremely serious form of Alpha Thalassemia that manifests in utero.  Mostly, babies with this condition are either stillborn or may die shortly after birth. This condition appears when all four alpha globin genes are missing or altered.

2. Beta Thalassemia

Beta Thalassemia is another severe form of the disorder. This occurs when the affected are the beta globin genes. In Beta Thalassemia, the body is incapacitated in producing the beta globin. The beta globin is made up of two genes that are inherited from the parents, one from each parent.

Beta Thalassemia consists of two severe subtypes:

  • Thalassemia Major

The most serious form of Beta Thalassemia is the Thalassemia major. When the beta globin genes are missing, it will result in Thalassemia major. Due to the severity of Thalassemia major, it will require regular blood transfusions.

  • Thalassemia Intermedia

Thalassemia intermedia is a less severe form of Beta Thalassemia. It occurs from the alterations of both beta globin genes. A blood transfusion may not be required for this form of Thalassemia.

3. Thalassemia Minor

This is a less severe form of Thalassemia disorder. Thalassemia minor develops if only one of the parents is a Thalassemia carrier.  Symptoms for this form may appear mild or may not be present at all and the person affected with the Thalassemia minor is considered a carrier.

If both parents are carriers of thalassemia, there is a greater probability of inheriting a more severe form of the disease.

Signs and Symptoms

Some people with Thalassemia disorder appear to be asymptomatic. For some, the signs and symptoms become only apparent in late childhood years or adolescent age.

The symptoms, severity, and onset of the different types of Thalassemia may vary depending on the type. Listed are commonly observed and may include:

  • Yellow or pale skin
  • Shortness of breath
  • Chest pain
  • Headache
  • Dizziness
  • Dark urine
  • Cold hands and feet
  • Weakness
  • Excessive tiredness and fatigue
  • Bone deformities in the face like forehead, cheeks, and jaw
  • Delayed growth and development

SIGNS AND SYMPTOMS OF BETA THALASSEMIA MAJOR

In Beta Thalassemia Major, the signs and symptoms may become obvious before the age of 2. The anemia in this condition is severe and can be fatal. The following are signs and symptoms that can be observed:

  • Paleness
  • Poor appetite
  • Irritable
  • Delayed growth and development
  • Frequent infections
  • Jaundice – a yellow discoloration of the whites of the eyes and skin
  • Enlargement of the internal organs

SIGNS AND SYMPTOMS OF BETA THALASSEMIA INTERMEDIA

In some cases of Beta Thalassemia Intermedia, the person is completely asymptomatic until adult age with only mild anemia with its general signs and symptoms. Listed below are the commonly observed signs and symptoms of Beta Thalassemia Intermedia:

  • Anemia
  • Enlarged spleen
  • Enlarged liver
  • Abdominal swelling

Diagnosis

The physician may request to perform the following diagnostic procedures to establish the diagnosis of the disorder:

  • Physical Examination – to check on paleness and enlargement of the spleen
  • Complete Blood Count – to check on the levels of the blood components especially the hemoglobin
  • Peripheral Blood Smear – to check the abnormalities in the red blood cells
  • Hemoglobin electrophoresis – this test separates the different components of the red blood cells and identifies the abnormal type

Treatment

The treatment of Thalassemia disease is dependent on the type and severity of the condition and may include the following:

  • Medications and supplements
  • Blood transfusions
  • Iron chelation therapy
  • Removal of gallbladder or spleen
  • Bone marrow transplant

During the course of treatment of the Thalassemia disease, some important things are taken into consideration, as follows:

  • For patients who will undergo a blood transfusion, taking vitamins or iron supplements will not be allowed to avoid iron overload which can be potentially fatal.
  • For those receiving a blood transfusion, it is significantly recommended that the person also received iron chelation therapy in order to remove excess iron from the body.

Complications

There are noted possible complications in moderate to severe Thalassemia, as follows:

The person may get excessive iron in the bodies that may come from a blood transfusion or from the disease itself. Excessive iron in the body is life-threatening because it can cause damage in the liver, heart, and endocrine system.

  • Heart Problems

As it is said, iron overload in the body of the person may damage the heart and this may come in the form of arrhythmias or congestive heart failure.

  • Infection

People with Thalassemia are prone to infection especially with the removal of the spleen.

  • Enlargement of Spleen

The damaged red blood cells caused the spleen to work harder which will result in its enlargement.

  • Slow Growth Rate

The growth of a child and puberty is delayed by anemia.

  • Bone Deformities

Thalassemia can cause the bones to grow more than the usual size. This is evident in the skull and face. With the bone marrow expansion, the bones get thinner and brittle posing high risk for the bone to break.

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