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Hemoglobinopathy is a genetic defect that causes abnormal structure of one of the globin chains of the hemoglobin molecule. There are the results of a genetic defect causing structural changes in one of the globin chains of the hemoglobin molecule. They represent inherited single-gene disorders and, most frequently, are transmitted as autosomal codominant traits. Hemoglobin disorders are listed in Table H-2. It is estimated that 7% of world’s population are carriers of defective genes of the hemoglobin molecule. Most of individual affected are located in Africa, with 60% of the entire population being carriers and 70% pathological. Hemoglobinopathies are also common in the Mediterranean and Southeast Asia. It is important to note that, while hemoglobinopathies are the result of structural abnormalities in the hemoglobin chain, Thalassemia on the other end result of an underproduction of normal hemoglobin proteins (usually due to a mutation). The two conditions may overlap because some hemoglobinopathies cause abnormalities in globin proteins (hemoglobinopathy) and also affect production (thalassemia). Therefore, it is considered that some hemoglobinopathies are also thalassemias, but most are not. Clinically, it is essential to note that both conditions may cause anemia. For instance, sickle-cell anemia and congenital dyserythropoietic anemia are considered hemoglobinopathies. Finally, because many hemoglobin variants do not cause clinical pathology or anemia, they are not classified as hemoglobinopathies, and will not be discussed in this section.

TABLE H-2Hemoglobin Disorders: An Overview

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