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- W2122550118 abstract "Thalassemias are inherited diseases caused by quantitative defects in the synthesis of one or more globin chains. Types are classified according to which globin chain synthesis is suppressed. The main 2 types are beta (β)-thalassemia and alpha (α)-thalassemia, which are caused by a defect in the synthesis of β- and α-globin chains of hemoglobin. Various forms of β-thalassemia have almost the same clinical manifestations that differ in severity. 1 Sickle cell disease includes a group of genetic disorders characterized by the presence of mutant hemoglobin called hemoglobin S, which is formed as a result of a point mutation in the second nucleotide of codon-6 of the β-globin gene. Hemoglobin S like hemoglobin A contains a tetramer of 2 α-chains, and 2 abnormal β-chains designated β s chains. The clinical manifestations differ according to whether the patient has inherited 2 β s -genes (sickle cell anemia) or one β s -gene (sickle cell trait). 2 Sickle/βthalassemia is a condition in which the patient has both mutations (double heterozygous) that result in HbS and β-thalassemia. The severity of this condition depends on the amount of normal hemoglobin (HbA) produced, which in turn depends on the thalassemia alleles, whether they are β + or β 0 . 1,3,4 Accordingly, sickle/β-thalassemia is classified into; sickle/ β 0 -thalassemia, where there is no HbA production, and sickle/β + -thalassemia in which HbA is produced in different concentrations. Patients whose cells produce large quantities of HbA will have a very mild form of the disease. In contrast, patients whose cells make few or no normal hemoglobin will have a disease as severe as the homozygous state of sickle cell anemia. 4 Sickle/β + -thalassemia disease is mainly found in people of Mediterranean origin including Greece, Turkey, Italy, and the Middle East. It is also found in Yugoslavia (no longer exists), Africa, and North America. The type of β-thalassemia mutation affects the clinical severity of the disease. El-Hazmi et al, 5 in 1994 reported that the coexistence of HbS and β + -thalassemia" @default.
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- W2122550118 date "2009-07-01" @default.
- W2122550118 modified "2023-09-23" @default.
- W2122550118 title "The relationship between the type of mutation in the globin gene and the type and severity of sickle/beta-thalassemia disease in Jordanian patients." @default.
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