Disease Information for Alpha-thalasssemia/MR syndrome (Xq13)

gene locus Xq13; Thalassemia is diagnosed using blood tests, including a complete blood count (CBC) and special hemoglobin studies; such as red blood cells, in a sample of blood; People with thalassemia have fewer red blood cells than normal and less hemoglobin than normal in their blood; Carriers of the trait may have slightly small red blood cells as their only sign; Hemoglobin studies measure the types of hemoglobin in a blood sample; Cooley’s anemia is usually diagnosed in early childhood because of signs and symptoms, including severe anemia; Some people with milder forms of thalassemia may be diagnosed after a routine blood test shows that they have anemia; Doctors suspect thalassemia if a child has anemia and is a member of an ethnic group that is at risk for thalassemia; The anemia in thalassemia occurs not because of a lack of iron, but because of a problem with either the alpha globin chain or the beta globin chain of hemoglobin; Family genetic studies are also helpful in diagnosing thalassemia; This involves taking a family history and doing blood tests on family members; Prenatal testing can determine if an unborn baby has thalassemia and how severe it is likely to be;

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