Beta thalassemia genes are reported throughout the world, although more frequently in Mediterranean, African, and Southeast Asian populations. Symptoms of beta thalassemia occur when not enough oxygen gets to various parts of the body due to low levels of hemoglobin.
Beta-thalassemia also known as Cooley's anemia. Beta-thalassemia happens when the body is unable to make an important blood protein called beta globin. Beta-thalassemia is caused by abnormalities in the beta-globin gene, located on chromosome 11. It is not a sex-linked genetic trait. Worldwide, beta thalassemia is affecting thousands of infants each year.
A shortage of red blood cells (anemia). This disorder is classified as thalassemia bigger or thalassemia intermedia depending on the severity of symptoms. Signs and symptoms of thalassemia major appear in the first 2 years of life. Infants have life-threatening anemia and become pale and listless. They also have a poor appetite, grow slowly, and may develop yellowing of the skin and whites of the eyes (jaundice). The spleen, liver, and heart may be enlarged, and bones may be deformed. Adolescents with thalassemia major may experience delayed puberty. Signs and symptoms of thalassemia intermedia appear in early childhood or later in life.
Individuals with thalassemia intermedia have mild to moderate anemia and may also have poor growth and bone abnormalities. The lack of beta globin leads to the death of most of the red blood cells, which in turn causes severe anemia. Without treatment, children will grow slowly, have an enlarged spleen, and display a "rat-like" face due to deformities in the skull. Left untreated, complications from the anemia can result in death, usually before age 30. Regular blood transfusions are necessary for a person with eta-thalassemia major to grow properly and survive. Along with transfusion therapy.
A person with beta-thalassemia major will also have to adhere to a difficult therapy for removal of excess iron introduced into the body by the transfusions. Allogeneic hematopoietic transplantation may be curative in some patients with thalassemia major. Drinking tea may help to reduce iron absorption through the intestinal tract. Vitamin C may improve iron excretion in patients receiving iron chelation. Folic acid supplementation is often given. Gene therapy remains a potential treatment for the future.
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