Clinical Genetic Disorder: Beta Thalassemia

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John and his wife Mary decided that after 3 years of marriage it was time for them to bring a child into their life. John and Mary lived on the coast of Italy, where the weather was always sunny and warm and the water not but a stone toss away. John and Mary decided that it was the right time, then, 9 months later they conceived a son, they named him Henry. During the first two years of Henry’s life John and Mary noticed abnormalities in Henry’s development. Henry did not gain weight or grow as he was expected to. He also exhibited signs of weakness and fatigue. Henry had always been pale, and this alone was never enough to alarm suspicion; but Henry’s paleness started to shift to a more yellowish tint, and along with these other signs raised enough suspicion to take Henry to the hospital. The doctor took blood from Henry to be tested. After the test result came back the doctor concluded that Henry had an enlarged spleen and liver. He was suffering from a hereditary disease called beta-thalassemia.

John and Mary in complete dismay questioned the doctor as to how their son suffered from a hereditary disease that neither of them suffered from. The doctor informed the grieving parents that both of them must be carriers of the mutated HBB gene. During the conception of Henry, John and Mary must have passed on the mutated recessive gene on: thus with the presence of two mutated recessive HBB genes caused Henry to develop Beta-thalassemia. The doctor continued to explain that the beta-thalassemia causes the beta-globin, a subunit of hemoglobin, to not be produced creating non-functional hemoglobin. Without sufficient hemoglobin, red blood cells do not develop properly, causing a shortage of mature red blood cells. This lack of red bl...

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