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What is the confirmation test for Alpha/Beta thalassemia?

User Seb Jachec
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Final answer:

Confirmation tests for Alpha/Beta thalassemia involve DNA probes for Beta-thalassemia and detection of Hemoglobin Bart's for Alpha-thalassemia.

Step-by-step explanation:

The confirmation tests for Alpha/Beta thalassemia are distinct for each type due to differences in the globin chains affected. For Beta-thalassemia, DNA probes synthesized to match the sites of the beta-globin gene where mutations are expected are used. The probes are combined with patient DNA, and perfect matches suggest the presence of mutations causing the disease. On the other hand, for Alpha-thalassemia, the presence of Hemoglobin Bart's (gamma4) in the patient's blood is a marker used to diagnose the condition. Since there are multiple genes for alpha chains, missing one does not usually have a severe effect, but missing multiple can lead to disease.

User Enyby
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