Pathology - Thalassemias
Etiology Thalassemias are caused by the deletion of one or more of the four genes that code for the alpha globin chain of hemoglobin in the body. This condition is known as alpha-thalassemias. ß-Thalassemias are caused by a point mutation in the B-globin gene, which leads to a decrease or complete absence of the production of the B-globin chain of hemoglobin (Hgb). Thalassemias are more prevalent in individuals with Mediterranean heritage. Study of the nature and causes of diseases. Pathology Alpha-Thalassemias: Examination of the blood sample reveals red blood cells that are abnormally small and pale, with a characteristic appearance of target cells. B-Thalassemias: The examination of the blood sample shows red blood cells that are pale and small in size, as well as cells with a target-like appearance and irregular shape and size variation. Symptoms and signs alpha-Thalassemias: There are four different clinical variations. (1) The presence of 3-4 normal genes in alpha-thalassemia trait results in an asymptomatic condition. (2) The presence of two normal genes in alpha-thalassemia trait results in mild anemia with a decrease in mean corpuscular volume (MCV). (3) Hemoglobin H illness is characterized by severe hemolytic anemia with low mean corpuscular volume (MCV) (< 70), the presence of Hgb H (aggregate of excess ß-chains), and splenomegaly. (4) Hydrops fetalis occurs in stillborn fetuses with no normal genes present. There are two clinical forms of ß-Thalassemias. (1) B-thalassemia minor refers to the condition of having one abnormal gene for beta-thalassemia, resulting in mild anemia and a decrease in mean corpuscular volume (MCV). (2) B-thalassemia major (homozygosity) is a condition characterized by significant destruction of red blood cells, resulting in low mean corpuscular volume (MCV). It typically manifests in infancy and is associated with elevated levels of hemoglobin E, enlargement of the spleen, and abnormalities in the bones due to expansion of the bone marrow. The patient has developed hemosiderosis as a result of receiving chronic transfusions, which has subsequently led to heart failure. Therapy a-Thalassemias: Alpha-thalassemia trait does not require treatment, although hemoglobin H illness may require transfusions. ß Thalassemias: ß-thalassemia minor does not require therapy, while transfusion and/or bone marrow may be necessary for other types of ß-thalassemia.
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