ABDOMINAL
THALASSEMIA
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Question
[CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
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Result of inherited genetic mutations in which amino acid substitutions or deletions cause structural changes in globin chains of the Hgb molecule
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Altered amino acid sequence causes globin chains to behave differently-structurally, electrochemically, and functionally
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Causes an imbalance between “partner” chains
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Structurally abnormal Hgb may cause a wide range of clinical features, from none at all to life-threatening symptoms.
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Detailed explanation-1: -Qualitative defects caused by the normal synthesis of an abnormal globin chain, often due to single amino acid substitutions in either the alpha or beta globin chains. A common example is the Glu to Val mutation at position six of the beta globin chain in sickle cell disease.
Detailed explanation-2: -Abnormal types of hemoglobin include: Hemoglobin (Hgb) S. This type of hemoglobin is found in sickle cell disease. Sickle cell disease is an inherited disorder that causes the body to make stiff, sickle-shaped red blood cells.
Detailed explanation-3: -Thalassemias: Thalassemias are quantitative defects that lead to reduced levels of one type of globin chain, creating an imbalance in the ratio of alpha-like chains to beta-like chains.