ABDOMINAL
THALASSEMIA
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Question
[CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
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True
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False
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Either A or B
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None of the above
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Detailed explanation-1: -Hb E is caused by a substitution of glutamic acid by lysine at codon 26 of the -globin gene. This mutation also activates a cryptic mRNA splice site, which results in reduced synthesis of the -E chain and leads to a thalassemia phenotype.
Detailed explanation-2: -Alpha thalassemia is caused by a mutation (or change) in the gene (or instructions) that controls how much alpha globin to make. Hemoglobin is made of two alpha globins and two beta globins. In alpha thalassemia, the body makes less alpha globin than beta globin because of the gene mutation.
Detailed explanation-3: -With a shortage of alpha-globin, cells make little or no normal hemoglobin. Instead, cells produce abnormal forms of hemoglobin called hemoglobin Bart (Hb Bart) or hemoglobin H (HbH). These abnormal hemoglobin molecules cannot effectively carry oxygen to the body’s tissues.