What condition results from a mutation in the Beta Globin gene?

• A. Albinism
• B. Sickle cell disease
• C. Cystic fibrosis
• D. Tay-Sachs disease

Answer: (B)

A mutation in the Beta Globin gene is directly associated with the condition known as sickle cell disease. This disease results from a single nucleotide change in the gene encoding the beta chain of hemoglobin, leading to the production of an altered form of hemoglobin called hemoglobin S (HbS). When oxygen levels are low, HbS causes red blood cells to deform into a characteristic sickle shape, which can block blood flow, leading to painful episodes and various complications.

This specific mutation fundamentally alters the way hemoglobin behaves within the red blood cells, resulting in both the clinical symptoms of sickle cell disease and its various complications. Understanding this mutation highlights the important relationship between genetic changes and their phenotypic outcomes in the context of human health.

The other conditions listed are linked to different genes and mutations, hence they do not relate to the Beta Globin gene specifically.