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Beta-Thalassemia: Disease Description Research Paper

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Updated: Sep 10th, 2021


Beta-Thalassemia is an inherited disease seen in children, as a result of a genetic blood disorder. The incidence of this disease is high in the Southern Mediterranean and Asian regions. This topic has been chosen for two reasons. The first is that it is a genetic disorder and the second is that though the incidence of beta-thalassemia is low in the United States of America, migration of individuals from the high incidence regions to the United States of America is occurring raising the possibility of increased incidence in the country. Hence enhanced knowledge of beta-thalassemia would be useful.

Beta Thalassemia

Makhoul, et al (2005), define beta-thalassemia as an “autosomal recessive disorder characterized by reduced (beta (+)) or absent (beta (0)) beta-globin chain synthesis”. In simple terms what this means is that beta thalassemia consists of a group of hereditary disorders that are that demonstrate a genetic deficiency in the synthesis of beta-globin chains in hemoglobin. According to Takeshita (2007), “the genetic defect usually is a missense or nonsense mutation in the beta-globin gene, although occasional defects due to gene deletions of the beta-globin gene and surrounding regions also have been reported”. In beta-thalassemia minor, which is the presence of thalassemia trait or heterozygous carrier type, one of the beta-globin genes is defective. The defect may present itself as a complete absence of beta-globin protein called beta-zero thalassemia or a reduced synthesis of the beta-globin protein called beta-plus thalassemia. In the case of beta thalassemia major or homozygous beta thalassemia, both the beta-globin genes are mutated, leading to severe impairment in the production of beta-globin chains. This severe imbalance in the synthesis of beta-globin chains causes ineffective erythropoiesis and severe microcytic hypochromic anemia. (Takeshita, 2007). The determining factor as to the inheritance of beta-thalassemia is genetics, as is the case in all forms of thalassemia. Beta-thalassemia minor can be found in individuals, who carry the trait for beta-thalassemia in their genetic make up. This trait hardly ever progresses into the disease itself, with generations passing before the manifestation of the disease in a child. Two individuals having beta-thalassemia trait producing a child increase the chances of the child developing thalassemia major by twenty-five percent (Catlin, 2004). This factor causes an increased incidence of beta-thalassemia in countries and regions, where close family marriages or consanguinity is practiced (Makhoul, et al, 2005). There exists the hypothesis that the thalassemia trait developed in countries, where malaria was endemic, as it offers some protection against malaria (Catlin, 2004).

Expression of beta-thalasemmia major occurs early in life, as a child. Children born with beta-thalassemia major may suffer from severe anemia, jaundice, and failure to demonstrate normal growth and development, before the diagnosis of beta-thalassemia major is made. Left untreated the these children experience further growth retardation, bone deformities with particular emphasis on the facial bones, enlargement of the spleen, susceptibility to infection, and finally on to early death (Catlin, 2004). The essential causes of morbidity and mortality in beta-thalassemia are anemia and iron overload. Individuals with thalassemia minor normally are not provided with any specific treatment. However patients with thalasemmia major need vigorous medical intervention. The treatment includes chronic transfusion therapy, iron chelation, splenectomy, and allogenic hematopoietic transplantation (Takeshita, 2007). Up to three decades children with thalassemia major had a life expectancy of less than twenty years, as a result of the toxic build-up of iron in their bodies, leading to failure of the major organs and death. In present times vigorous medical intervention including the ability to remove iron from the body of the patient has vastly increased the life expectancy of children with beta-thalassemia major to about fifty years (Catlin, 2004).

Though there has been advance in the management of beta-thalassemia, no cure for beta thalassemia major has been found has yet. Scientists are continuing their efforts to find improved means for treating thalassemia major and a possible cure for the disease. Treatment avenues being explored currently include trying to induce the body of the individual to produce fetal hemoglobin again instead of adult hemoglobin. This effort stems from the finding that infants born with sickle cell anemia do not demonstrate any signs of the disease, until the fetal hemoglobin is changed to adult hemoglobin later in childhood. Other treatments being tried out include gene therapy and bone marrow or umbilical stem cell transplants (Catlin, 2004).


Beta-thalassemia is an inherited disease with the potential to be life threatening. Though, not a disease of high incidence in the United States of America, the increasing diversity in the population raises the possibility of the increase in the incidence in the country. Understanding the disease increases the means for prevention and arriving at more efficient treatment methods.


  1. Catlin, A. J. (2004). Thalassemia: The Facts and the Controversies. Pediatric Nursing, 29(6), 447-451.
  2. Makhoul N. J., Wella, R. S., Kaspar, H., Shbaklo, H., Taher, A., Chakar, N., & Zalloua, P. A. (2005). Genetic heterogeneity of Beta thalassemia in Lebanon reflects historic and recent population migration. Annals of human genetics, 69 (Pt 1), 55-66.
  3. Takeshita, K. (2007). emedicine. Web.
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