The transport of oxygen throughout the body requires a protein called hemoglobin. Thalassemia describes a range of genetic disorders that cause poor hemoglobin function. Thalassemias are hereditary, which mean that they run in families. In some cases a child may develop thalassemia even if his parents show no symptoms of the disease.
Hemoglobin
Hemoglobin is the protein responsible for carrying oxygen in the blood, the National Heart Lung and Blood Institute explains. Each molecule of hemoglobin has four subunits: two alpha and two beta subunits. Thalassemia is the result of mutations in the genes that encode these subunits; these mutations lead to problems with hemoglobin production.
Major vs. Minor Thalassemia
Thalassemia can be severe or mild. Patients are said to have thalassemia major if both of their alpha or beta hemoglobin genes are mutated. Patients with two mutated alpha genes often die during infancy as a result of the hemoglobin mutations, according to the National Human Genome Research Institute. Patients with two mutated beta genes have a condition known as beta thalassemia major. Thalassemia minor is a milder form of the disease; the patients have only one mutated alpha or beta subunit gene. People with thalassemia minor often have no symptoms.
Anemia
Because thalassemia results in dysfunctional hemoglobin molecules, the main symptoms of all thalassemias are anemia, the Mayo Clinic explains. Fatigue, pallor and chronic shortness of breath are all common symptoms of anemia, because the body is unable to sufficiently transport oxygen. Thalassemia can also slow a child's growth and cause a delay in puberty.
Other Symptoms
Patients with thalassemia major may also develop liver problems, the National Heart Lung and Blood Institute explains. This can lead to jaundice, abdominal pain and unusually dark urine. Patients can also have deformed facial bones and have an enlarged spleen, heart and liver. An enlarged spleen is a particular hazard because it can be damaged and rupture as a result of blunt trauma to the abdomen, which can occur during contact sports.
Complications
Thalassemias can also cause a variety of complications. Patients can develop hemochromatosis, which is a condition in which iron is deposited in tissues throughout the body. According to the Mayo Clinic, this can be a result of the anemia or as a result of the blood transfusions often used to treat thalassemias. Patients are also more prone to developing infections and are at a greater risk of developing heart failure and cardiac arrhythmias.
