The most common monogenic disease in humans, it is a blood-related genetic disorder that involves errors or absence of genes responsible for producing the globin chains called hemoglobin, a protein found in blood cells. red. Thalassemia is an autosomal recessive disorder associated with defective synthesis of the alpha or beta chain of hemoglobin (Elborai et al, 2012). The name thalassemia comes from the Greek word “Thalassa” which means “the sea”, because the disease was first described in populations living near the Mediterranean Sea (Nathan, 1988). However, the disease is also prevalent in Africa, the Middle East, South Asia and countries of Pacific origin (Simon, 1999). Additionally, thalassemia causes immense disruption of hemoglobin synthesis (Nathan, 1998). Thalassemia patients have a genetic defect in their red blood cells that affects the cells' ability to produce normal hemoglobin. Red blood cells use hemoglobin to carry oxygen to tissues. Because of this abnormality, most forms of thalassemia produce a lifelong, chronic anemia that begins in early childhood and often must be treated with frequent blood transfusions. According to the World Health Organization, thalassemia is the most common genetic blood disease in the world and is increasing rapidly, 5% of the world's population carries it and the percentage of people carrying the gene reaches 25% in some regions. . Three hundred thousand affected babies are born each year. The World Health Organization (WHO) predicts a doubling of these statistics over the coming decades (WHO, 2011). The types of thalassemia patients vary from minor, major and intermediate. Minor patients carry thalassemia, they show no symptoms...... middle of article ......cular Therapies, 1(1520-4383), 31-37.Bianchi, N., Breda , L., Cartegni, L., Casu, C., Fibach, E., Gardenghi, S., Gardner, LB, Gambari, R., Giardina, PJ, Grady, RW, Kleinert, DA, Little, J., Manwani, D., Musso, M., Narla, M., Prus, E., Rivella, S. and Yazdanbaksh, K. (2012). Thalassemia. Therapeutic hemoglobin levels after gene transfer in b-thalassemia mice and in hematopoietic cells from patients with b-thalassemia and sickle cell disease. 7(3), 1-14. Elborai, Y., Uwumugambi, A. and Lehmann, L. (2012). Immunotherapy. Hematopoietic stem cell transplantation for thalassemia. 4(9), 947-956. Amselem, S., Chibani, J., Gattoni, R., Goossens, M., Stevenin, J., Vidaud, D. and Vidaud, M. (1989). Medical sciences. A G -> C mutation of the 5' splice region in exon 1 of the human fi-globin gene inhibits pre-mRNA splicing: a mechanism for fB+-thalassemia. 86(1), 1041-1045.

Essay / The most common monogenic disease in humans, it is a blood-related genetic disorder that involves errors or absence of genes responsible for producing the globin chains called hemoglobin, a protein found in blood cells. red. Thalassemia is an autosomal recessive disorder associated with defective synthesis of the alpha or beta chain of hemoglobin (Elborai et al, 2012). The name thalassemia comes from the Greek word “Thalassa” which means “the sea”, because the disease was first described in populations living near the Mediterranean Sea (Nathan, 1988). However, the disease is also prevalent in Africa, the Middle East, South Asia and countries of Pacific origin (Simon, 1999). Additionally, thalassemia causes immense disruption of hemoglobin synthesis (Nathan, 1998). Thalassemia patients have a genetic defect in their red blood cells that affects the cells' ability to produce normal hemoglobin. Red blood cells use hemoglobin to carry oxygen to tissues. Because of this abnormality, most forms of thalassemia produce a lifelong, chronic anemia that begins in early childhood and often must be treated with frequent blood transfusions. According to the World Health Organization, thalassemia is the most common genetic blood disease in the world and is increasing rapidly, 5% of the world's population carries it and the percentage of people carrying the gene reaches 25% in some regions. . Three hundred thousand affected babies are born each year. The World Health Organization (WHO) predicts a doubling of these statistics over the coming decades (WHO, 2011). The types of thalassemia patients vary from minor, major and intermediate. Minor patients carry thalassemia, they show no symptoms...... middle of article ......cular Therapies, 1(1520-4383), 31-37.Bianchi, N., Breda , L., Cartegni, L., Casu, C., Fibach, E., Gardenghi, S., Gardner, LB, Gambari, R., Giardina, PJ, Grady, RW, Kleinert, DA, Little, J., Manwani, D., Musso, M., Narla, M., Prus, E., Rivella, S. and Yazdanbaksh, K. (2012). Thalassemia. Therapeutic hemoglobin levels after gene transfer in b-thalassemia mice and in hematopoietic cells from patients with b-thalassemia and sickle cell disease. 7(3), 1-14. Elborai, Y., Uwumugambi, A. and Lehmann, L. (2012). Immunotherapy. Hematopoietic stem cell transplantation for thalassemia. 4(9), 947-956. Amselem, S., Chibani, J., Gattoni, R., Goossens, M., Stevenin, J., Vidaud, D. and Vidaud, M. (1989). Medical sciences. A G -> C mutation of the 5' splice region in exon 1 of the human fi-globin gene inhibits pre-mRNA splicing: a mechanism for fB+-thalassemia. 86(1), 1041-1045.

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