health · Thalassemia

Thalassemia

Thalassemia is the name of a group of genetic blood disorders. To understand how thalassemia affects the human body, you must first understand a little about how blood is made.

Hemoglobin is the oxygen-carrying component of the red blood cells. It consists of two different proteins, an alpha and a beta. If the body doesn’t produce enough of either of these two proteins, the red blood cells do not form properly and cannot carry sufficient oxygen. The result is anemia that begins in early childhood and lasts throughout life.

Since thalassemia is not a single disorder but a group of related disorders that affect the human body in similar ways, it is important to understand the differences between the various types of thalassemia.

There are two type of Thalassemia :

  • Thalassemia Trait – also known as Thalassemia minor
  • Thalassemia Major – also known as beta Thalassemia

Thalassemia Trait  – Carrier

thalassemia carrier is someone having a thalassemia mutation in one of the two genes involved in normal red blood cell production. For a person to be thalassemic, he must have a gene defect on both genes. This thalassemia carrier state, also called thalassemia minor or thalassemia trait, causes no direct health problem but can result in having a child with severe thalassemia if also the partner is a carrier.

A mild form of Thalassemia minor may be mistaken for iron deficiency anemia. Iron medicines are not usually necessary and will not help your anemia. They could even be harmful if taken over a long period of time.

Do the carriers have the disease?

Carriers of the thalassemia trait do not have a disease. They have no physical or mental symptoms and do not require a special diet or medical treatment. The condition cannot become a serious disease over time, indeed, most will be unaware that they are carriers unless specifically tested. However, some carriers may experience mild anemia, which may be inaccurately diagnosed as iron deficiency anemia. Laboratory tests can easily differentiate between the two.

Problem may occur?

The problem is that carriers could have thalassemia major children. In other words, when two carriers have a child, there is a 25% chance with each pregnancy, with a one to four, that the coming child would have thalassemia major.

Probabilities of having a thalassemia child

-When one parent is a carrier and the other is free, there will be no risk of having a child with B- thalassemia majorHowever, there will be probability to give birth to a carrier child by 50%.

When both parents are carriers, for every pregnancy there is one in four (25%) chance that the child will have thalassemia major, one in two (50%) chance that the child will carry the thalassemia trait, and one in four (25%) chance that the child will be completely unaffected.

Thalassemia Beta

Thalassemia majoroccurs when production of the beta globin protein is affected by gene defects, resulting in red blood cell destruction and anemia. Thalassemia major is most common in people of Mediterranean descent, including Greeks and Italians. African Americans and Asians, especially Chinese, are also genetically predisposed to the blood disorder. Prenatal screenings and genetic counseling are available to those who are concerned about a family history of the disease.

When a baby is born with thalassemia major, the diagnosis is not always apparent until the child develops anemia, usually during the first year of life. Symptoms of thalassemia major that a parent may notice include fussiness, poor appetite, and increased infections. As the child matures, other symptoms may include delayed growth, bone deformities in the face, and an extended abdomen caused by liver and spleen swelling. Without treatment, the blood disorder can result in heart-failure and liver problems.

Treatment

The most common treatment for thalassemia major is a regimen of regular blood transfusions. Patients are often prescribed an additional medication, called chelation therapy, to reduce the damaging effects of the transfusions, since they can cause an abnormal accumulation of iron in the body. Most patients are also advised to take daily doses of folic acid. Bone marrow transplantation may be a viable treatment option in some patients, especially children, and those who have full siblings who can serve as matched bone marrow donors. Though these treatment options have improved the prognosis for many patients, long term survival remains a challenge for those who are affected by severe cases of the disease.

Thalassemia major is diagnosed using blood tests. A complete blood count (CBC) identifies anemia, while smaller than average red blood cells and other abnormalities that are characteristic of the blood disorder can be viewed under a microscope. An additional test called a hemoglobin electrophoresis helps to further identify the abnormal hemoglobin that is typical of this type of thalassemia.

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