What Are the Symptoms of Thalassemia?

Symptoms of thalassemia are those of anemia, including pallor, weakness, severe fatigue, shortness of breath, dizziness, fast heart rate, decreased appetite, unintentional weight loss, failure to thrive in babies or poor growth and development in children. Other symptoms may include jaundice*, dark urine, bloated abdomen, fevers, diarrhea, smooth swollen tongue, and abnormalities of the facial bones.

How Is Thalassemia Diagnosed?

Thalassemia may be suspected based on the presence of characteristic symptoms, as well as due to knowledge of individuals' family history. A physical examination will reveal some of the characteristic signs of thalassemia. Blood tests can be done to demonstrate red blood cell abnormalities (in shape, size, and quantity), decreased levels of hemoglobin and iron, which is a major component of hemoglobin. Genetic testing may be performed to reveal the abnormal genes that are responsible for thalassemia.

How Is Thalassemia Treated?

Minor forms of thalassemia may have such mild symptoms that no treatment is required. In some cases, illness, stress, surgery, childbirth, or severe infections may prompt the need for a blood transfusion.

Major forms of thalassemia may require regular blood transfusions. Unfortunately this treatment puts recipients at high risk of accumulating too much iron in the blood, which can be damaging to multiple organs, including the heart and liver. Drugs may be required to decrease the amount of iron in the blood (called iron chelators or chelating agents). Very severe complications from thalassemia may require a bone marrow transplant or stem cell transplant.

Can Thalassemia Be Prevented?

People who know that thalassemia runs in their families can undergo genetic counseling to ascertain their own risk of passing the condition on to their offspring. Once a baby has been conceived, prenatal tests can determine whether the fetus has the disease. Tests include chorionic villus sampling or amniocentesis.

Assisted reproductive technology can also be used to try to avoid conceiving babies who have the genes for thalassemia. This technology requires in vitro fertilization. Blastoplasts (cell masses that can develop into embryos) are tested for the presence of the thalassemia-causing genes, and only those without these genes (usually two) are then implanted into the woman's uterus.

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