Thalassemia which chromosome

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Am J Hematol ; 46 : 79— At least 9 different genes direct the production of heme. Changes in these genes may lead to disorders of heme production, a group of conditions separate from the thalassemias. Alpha thalassemia occurs when a mutation in the gene that codes for alpha globin results in reduced or absent production of alpha globins.

Beta thalassemia occurs with a corresponding change in the beta globin gene. Therefore, the thalassemias are a result of quantitative mutations in the globin genes. Notice there are 22 pairs of numbered chromosomes autosomes and one pair of sex-determining chromosomes. Also notice that a male carries both an X- and a Y-chromosome, whereas a female has two X-chromosomes.

Of the two types, thalassemia major is more severe. The signs and symptoms of thalassemia major appear within the first 2 years of life. Children develop life-threatening anemia.

They do not gain weight and grow at the expected rate failure to thrive and may develop yellowing of the skin and whites of the eyes jaundice. Affected individuals may have an enlarged spleen, liver, and heart, and their bones may be misshapen. Some adolescents with thalassemia major experience delayed puberty.

Many people with thalassemia major have such severe symptoms that they need frequent blood transfusions to replenish their red blood cell supply. Over time, an influx of iron-containing hemoglobin from chronic blood transfusions can lead to a buildup of iron in the body, resulting in liver, heart, and hormone problems. Thalassemia intermedia is milder than thalassemia major. The signs and symptoms of thalassemia intermedia appear in early childhood or later in life. Affected individuals have mild to moderate anemia and may also have slow growth and bone abnormalities.

Beta thalassemia is a fairly common blood disorder worldwide. Thousands of infants with beta thalassemia are born each year. Mutations in the HBB gene cause beta thalassemia.