Thalassemia is a blood disorder caused by a low amount of hemoglobin, inherited from one or both parents. Symptoms range from mild to severe, including anemia, weakness, shortness of breath, and bone deformities. Diagnosis is made through blood and genetic tests, and treatment depends on symptoms.
Thalassemia is a disease that affects the blood. It causes the body to produce a low amount of hemoglobin, a protein found in red blood cells to carry oxygen. This type of blood disorder is inherited from one or both parents. In many cases, thalassemia can lead to anemia. Symptoms of thalassemia can range from mild to moderate, and some may align with the classic symptoms of anemia.
Hemoglobin is made up of two primary proteins, known as alpha globin and beta globin. A defect in the genes used to make these proteins is the most general cause of thalassemia. If the genes used to make alpha globin are mutated, a type of thalassemia known as alpha thalassemia can result. Similarly, if the beta globin genes are faulty, the condition can be known as beta thalassemia. When a person gets the defective genes from only one parent, he has a minor form of thalassemia; when genes are provided by both parents, it is an important form.
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 not be aware of the disorder before being diagnosed. An individual with a severe form of thalassemia may have a variety of symptoms. Weakness and classic symptoms of tiredness, such as low energy and tiredness can be symptoms of thalassemia. Some people can become so weak that they pass out.
Shortness of breath, rapid heartbeat, and dark urine can be additional symptoms of thalassemia. In some cases, shortness of breath can start after a mild level of activity. For some individuals with this blood disorder, however, it may not take any effort to get short of breath. Individuals with a rapid heart rate will most likely feel the discomfort. Also, the dark urine symptom is one of the more visual symptoms.
Some people may develop a change in skin color. A person may start to look very pale. He or she may also experience yellowing of the white parts of the eyes and skin. If this happens, the person may have jaundice, one of the symptoms of thalassemia. In many cases, these obvious skin changes can lead a person to seek medical attention, where the diagnosis of thalassemia can be made.
Some children with this disorder will have stunted growth. The child may be permanently shorter than other children in his age group. Bone deformities are also common in the major forms of thalassemia. Most commonly, the deformities will be in the face. Blood and genetic tests may be done to diagnose thalassemia, and treatment will typically depend on the major symptoms present.
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