Thalassemia Essay

Thalassemia is an inherited blood disorder characterized by low amounts of hemoglobin and a low count of erythrocytes in the body. Thalassemia is caused by mutations in the deoxyribonucleic acid of cells, which makes hemoglobin. The mutations are passed from parent to child. The mutations vary depending on the type of Thalassemia inherited. The variation in the mutation occurs from the number of gene mutations, which are inherited, as well as mutation within the hemoglobin molecule. Clinical manifestations are diverse ranging from asymptomatic, to those who are carriers of the thalassemia, which may have mild symptoms, there also people who posses the trait, who may have severe symptoms which lead to death.

Thalassemia has been categorized into two forms, which are: Alpha-thalassemia, Beta-thalassemia. Thalassemia is a syndrome that is classified according to a defect in either the Alpha or Beta globulin chains. Symptoms of thalassemia include: fatigue, weakness, jaundice, facial bone deformities, slow growth, abdominal swelling, and dark urine. Thalassemia is most commonly seen in Africa, Asia, the Mediterranean Region and Indiana. However, thalassemia does not have a specific ethnic group and can appear in any ethnicity as well as in any geographic location (Bain, 2006).

Background:

The diminished rate of synthesis amongst the globin chains was first described from Cooley and Lee. However, the term “Thalassemia: was coined by Whipple and Bradford in 1936 (Bain, 2006). The term “Thalassemia” is derived from the Greek words “Thalassa” (sea) and “Heama” (blood) and refers to disorders associated with defective synthesis of the alpha or beta globin subunits of the hemoglobin molecule. Hemoglobin A (a2B2) is inherited. ...

... middle of paper ...

...deficient cells, while allowing growth of the transformed cells. The second way in which genes can be transformed is by which normal cells can be used due to genes for selectable markers. Introduction in cells require co-transformation of a gene for a globin and one for a selectable marker this is completed by the introduction into mouse erythroleukemia cells and several transformed clones have been shown to express human beta globin gene. Exposure of these transformed erythroleukemia cells to the inducer, dimethylsulfoxide, leads to increased expression of the mouse globin genes (AW Nienhuis, 2014).

Future Studies:

As for the Markis et al 2013 research, I would like to see a larger number in the cohort study and over a longer duration to get more accurate statistical information regarding the treatment option oral deferiprone chealtin treatment in children.