Thalassemia can be diagnosed in different ways. Some types can be found on routine blood tests that show that the red blood cells are small or the patient is anemic. Testing of parents can be done before pregnancy to determine whether there is a risk of having a child with a severe form of thalassemia. The illness can be seen in sophisticated genetic testing, and can be found prenatally through amniocentesis or chorionic villus sampling (CVS).
Introduction: Thalassemia is a genetic blood disorder characterized by abnormal hemoglobin production, leading to anemia. Thalassemia minor, also known as thalassemia trait or carrier state, is the mildest form of thalassemia. Individuals with thalassemia minor typically have one normal hemoglobin gene and one mutated hemoglobin gene. Although it is considered a mild condition, understanding thalassemia minor is crucial due to its implications for genetic counseling and potential complications during pregnancy. Genetic Basis and Inheritance: Thalassemia minor is inherited in an autosomal recessive manner, meaning that both parents must carry the gene mutation for their child to have thalassemia minor. The mutated genes affect the production of either the alpha or beta globin chains that make up hemoglobin, the protein responsible for carrying oxygen in the blood. The severity of thalassemia is influenced by the specific gene mutation and the extent to which the normal gene is affected....
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