Sunday, December 21, 2014

Definition

Thalassemia, also known as Mediterranean Anemia, Cooley's Anemia or Homozygous Beta Thalassemia, is a group of inherited disorders in which there is a fault in the production of hemoglobin (oxygen-carrying pigment found in red blood cells).

Description

Blood is red because the red blood cells contain an oxygen-carrying substance called hemoglobin. The principal function of hemoglobin is to combine with and transport oxygen from the lungs and deliver it to all body tissues, where it is required to provide energy for the chemical reaction of all living cells.

Hemoglobin contains a large amount of iron. When red blood cells are broken down, most of the iron from the hemoglobin is used again to make new hemoglobin.

In the case of thalassemia the hemoglobin is fragile and breaks down sooner than normal, thus leaving the person with not enough hemoglobin in their body. This lack of hemoglobin causes anemia.

There are different types of anemia. The most common is iron-deficiency anemia. This happens when people do not have enough hemoglobin because they're not eating enough of the foods that contain iron (See Health Profile on Anemia).

Thalassemia is a different type of anemia. This happens when people do not have enough hemoglobin and is caused by the inheritance of a defective gene.

There are two forms of thalassemia:

Thalassemia trait

People with thalassemia trait carry thalassemia, but they are not ill. They are healthy and normal, however, some may have slight anemia.

People with thalassemia trait also have slightly more hemoglobin called hemoglobin A2 in their blood.

Thalassemia trait is present at birth, it remains the same for life, and it can be handed down from parents to children.

Thalassemia major

This a very serious blood disease that begins in early childhood.

Children with thalassemia major are normal at birth but become anemic between the age of three months and eighteen months. They become pale, do not sleep well, do not want to eat, and may vomit frequently after feedings.

If thalassemia major goes untreated, children usually die between one and eight years of age.

Causes

Thalassemia is a genetically determined disease. It tends to be found in individuals whose families come from the Mediterranean region, Africa, and sometimes Asia.

Symptoms

People with thalassemia major may experience the following:

  • Paleness
  • Headaches
  • Fatigue
  • Shortness of breath
  • Jaundice
  • Spleen enlargement

Diagnosis

The diagnosis of thalassemia trait and thalassemia major is made from microscopic examination of the blood, which shows many small, pale red blood cells, and from other blood tests that show reduced levels of adult hemoglobin in the blood.

Treatment

Thalassemia trait

Normally, there are no treatments recommended. However, the doctor may suggest taking iron medication if they feel it is necessary.

Thalassemia major

The primary treatment is regular blood transfusions, usually every four weeks. In addition to the blood transfusions, doctors recommend injections of Desferal to help the body flush out the extra iron created by the new blood. The injections are given under the skin from a small pump 5 to 7 nights a week.

Additionally, splenectomy (removal of the spleen), bone marrow transplants and chelation therapy are being researched as possible treatments for thalassemia.

Questions

How can having the thalassemia trait affect a person's life? Children's lives?

Do you recommend genetic counseling if a couple is planning on having children?

Is a thalassemia carrier more likely to get other diseases?

Is a thalassemia carrier physically or mentally weak?

Can thalassemia trait turn into thalassemia major?