Thalassemia is a genetic disorder of the red blood cells. There are two different forms of thalassemia, each of which has mild to major forms. Alpha thalassemia occurs when one or more of the four genes that produce the alpha globin protein chain in hemoglobin are missing. The mildest form of alpha thalassemia is often asymptomatic. Beta thalassemia occurs when there is a defect in one or both of the two genes making up the beta globin protein chain in hemoglobin. All forms of beta thalassemia exhibit clinical signs ranging from simple tiredness to severe anemia and malformations of bones and organs.
Tiredness
Individuals with mild alpha or beta thalassemia may have extreme tiredness, a result of mild anemia, which may be undiagnosed.
Anemia
Moderate anemia is a symptom of beta thalassemia intermedia, the moderate form of beta thalassemia. Thalassemia major, also known as Cooley's anemia, is the most severe form of beta thalassemia, and sufferers generally have severe anemia. The March of Dimes points out that anemia caused by thalassemia may worsen during an illness caused by a viral infection or when the affected individual takes certain drugs, such as sulfa drugs.
Slow Growth
Slow growth in children is a sign of moderate to severe beta thalassemia, according to the National Heart Lung and Blood Institute. This can also lead to a delayed onset of puberty.
Enlarged Internal Organs
Thalassemia major causes an enlargement of the spleen, liver and heart. Patients with beta thalassemia intermedia often exhibit an enlargement of the spleen because it is overworked.
Bone Problems
The bones of someone with moderate or severe beta thalassemia are wider than normal bones and more prone to brittleness and breakage. This is because thalassemia causes an expansion of the bone marrow, which both stretches out the bone and weakens it. In beta thalassemia major, this occurs primarily in the bones of the face.
Jaundice
Individuals with Cooley's anemia, the severe form of beta thalassemia, may have jaundice, a yellowing of the skin and the whites of the eyes.
Fetal Death
Alpha thalassemia major, also known as hydrops fetalis, usually results in the death of the fetus before it has developed to the point of viability.
Blood Abnormalities
Under a microscope, beta thalassemia shows distinct abnormalities of the blood, as described on the Your Genes, Your Health website by the Dolan DNA Learning Center. Blood cells of a person with beta thalassemia are smaller than normal blood cells, pale and oddly shaped. These features occur because the cells lack hemoglobin that would make them round, full and red.
