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Thalassemia is a disorder that affects the blood. It causes the body to produce a low amount of hemoglobin, a protein found in red blood cells to transport oxygen. This type of blood disorder is inherited from one or both parents. In many cases thalassemia can lead to anemia. The symptoms of thalassemia can vary from mild to moderate and some may be aligned with the classic symptoms of anemia.
Hemoglobin consists of two primary proteins, known as alpha globin and beta globin. A defect in the genes used to make up these proteins is the most general cause of thalassemia. If genes used to make alpha globin are mutated, a type of thalassemia known as alpha thalassemia can result. Similarly, if beta globin genes are defective, the condition may be known as beta thalassemia. When a person receives the defective genes from only one parent, he or she has a minor form of thalassemia; when the genes are contributed by both parents, it is a major form.
The symptoms of thalassemia may be insignificant in a person with a minor form of the disorder. In fact, when the condition is minor, a person may be unaware of the disorder prior to being diagnosed. An individual with a major form of thalassemia may exhibit a variety of symptoms. Weakness and classic symptoms of fatigue, such as low energy and tiredness can be symptoms of thalassemia. Some people may grow so weak they may experience fainting spells.
Shortness of breath, a rapid heartbeat and dark urine can be additional symptoms of thalassemia. In some cases, the shortness of breath may begin after a mild level of activity. For certain individuals with this blood disorder though, no exertion may be necessary to have shortness of breath. Individuals with a rapid heartbeat will most likely feel the disturbance. Additionally, the symptom of dark urine is one of the most visual symptoms.
Some people may develop a change in skin color. A person may start to have a very pale appearance. He or she may also experience yellowing of the white parts of the eyes and the skin. If this happens, the person may have jaundice, one of the symptoms of thalassemia. In many cases, these noticeable skin changes may lead a person to seek medical attention, where the diagnosis of thalassemia may be made.
Some children with this disorder will have a delayed growth. The child may permanently be shorter than other children in his or her age range. Bone deformities are also common in major forms of thalassemia. Most commonly, the deformities will be in the face. Blood and genetic tests may be conducted to diagnose thalassemia and treatment will typically depend on the greatest symptoms present.