Beta Thalassemia by Sylvester. Definition: Thalassemia is inherited disorders characterized reduced or absent amounts of hemoglobin, the oxygen-carrying protein inside the red blood cells. Two Basic Groups of Thalassemia Disorder. Alpha Thalassemia
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Definition: Thalassemia is inherited disorders characterized reduced or absent amounts of hemoglobin, the oxygen-carrying protein inside the red blood cells.
In the case of beta thalassemias, in contrast to alpha -thalassemias, the most frequently encountered molecular abnormalities are point mutations and short insertions or deletions limited to a few nucleotides
chain is still synthesized. The quantity of globin chain, which is made, varies largely from one molecular defect to another, this chain may be structurally normal or abnormal
· In beta 0 thalassemias , the gene is unable to encode for any functional mRNA and therefore there is no beta chain synthesize
Two situations have clearly to be distinguished:
· In beta + thalassemias, the mutated gene encodes for a small amount of normal mRNA and, thus, a low amount of