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Q.

Which of the following genetic disorders can be attributed to 11th chromosome of human?

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a

Sickle cell anaemia, α- thalassemia 

b

Sickle cell anaemia, β - thalassemia 

c

Only α - thalassemia 

d

α - thalassemia, β - thalassemia 

answer is B.

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Detailed Solution

Both sickle cell anemia and β-thalassemia are hereditary disorders related to hemoglobin production, and they can lead to anemia and various health problems. The specific mutations in the HBB gene on the 11th chromosome are central to the development of these conditions.

  • Sickle Cell Anemia:

Sickle cell anemia is a genetic blood disorder caused by a mutation in the HBB gene, located on the 11th chromosome. Specifically, it involves a mutation in the beta-globin gene (HBB), which is responsible for producing a component of hemoglobin (the protein in red blood cells that carries oxygen). Individuals with sickle cell anemia have two copies of the mutated HBB gene (HbS/HbS), leading to the production of abnormal hemoglobin known as hemoglobin S (HbS). This abnormal hemoglobin can cause red blood cells to become misshapen (sickle-shaped) under certain conditions, leading to blockages in blood vessels and various health complications.
 

  • β-thalassemia (Beta-Thalassemia):

β-Thalassemia is another genetic blood disorder that affects the production of hemoglobin. It can result from mutations in the beta-globin gene (HBB) located on chromosome 11, similar to sickle cell anemia. β-Thalassemia is characterized by reduced or absent production of normal beta-globin chains in hemoglobin. The severity of the condition can vary depending on the specific mutation, with some individuals having mild symptoms while others experience more severe anemia and related complications.

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