What is Beta Thalassemia?

Beta thalassemia is a condition that affects the hemoglobin levels in blood, and may have a small or great effect on the person. This condition is also known as Mediterranean thalassemia, and since it is genetically inherited it does appear to be common among those of Mediterranean descent. However, it also affects people in Asia, parts of Africa and the Middle East, in addition to many people in the rest of the world..

It’s important to understand what hemoglobin is and how the action of this disease can impair it. First hemoglobin molecules in blood assist in carrying oxygen to the body, and they’re made up of four parts. Two of these are called beta hemoglobin and the other two are called alpha hemoglobin. When changes occur to the alpha proteins in hemoglobin the result is alpha thalassemia. When one or both of the genes are impaired that make the beta part of hemoglobin, this results in beta thalassemia.

The way that almost all people get this condition is by inheriting one or two damaged genes for the beta part of hemoglobin molecules, which either partially or completely damages the body’s ability to produce adequate and healthy hemoglobin. Inheritance is always through parents, and only a person with two parents with at least beta thalassemia minor is at risk for the more severe forms of the illness. When each parent has a defect gene, each child born has a 50% chance of inheriting one defective gene, and a 25% inheriting two defective genes, which will cause major or moderate forms of the condition. People can theoretically inherit the minor form with just one parent that has a damaged chromosome.

When people inherit one damaged gene they may have very few symptoms except for "minor" anemia which usually doesn’t require treatment. People with this form are expected to live healthy lives. If people get a damaged gene from each parent, they can have beta thalassemia moderate or major, depending on the degree to which a person is ill, and this can be very serious.

The symptoms of moderate beta thalassemia include anemia and the condition is marked by occasional irregularities in the way facial bones grow. It’s not uncommon for people with this condition to have slow growth patterns too. With beta thalassemia major, symptoms are much more pronounced. Poor feeding is noted in the infant due to severe anemia and exhaustion. Growth is very slow and delay of puberty is common.

Other symptoms associated with the most severe expression of this illness include tiredness, fatigue, low energy, unusual bone growth in the face, paleness, and jaundice. Sometimes the abdomen sticks out. Other symptoms could include very dark colored urine, which may also indicate jaundice, and overall weakness.

When this condition is diagnosed, the next step is to determine treatment. Treatment will usually consist of giving regular blood transfusions. The one difficulty with this is that iron gets built up in the body, and an adjunct treatment is typically to remove extra iron by using different medications. When treatment is inadequate, occasionally doctors will consider attempting a bone marrow transplant, but this is still less preferred and not always effective.

Beta thalassemia is thus a challenging condition that will require treatment for life. Even with such treatment, things like energy levels, resistance to disease and growth patterns may be altered. People can expect to work regularly with hematologists in order to maintain health. Another thing that may prove helpful is belonging to a support group, and there are even some Internet groups available for either families or for individuals affected by this condition.