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Which of the following genetic diseases is characterized by fragile, abnormally shaped erythrocytes and has been traced to mutations in ankyrin or spectrin?

1) hemophilia
2) sickle cell anemia
3) hemolytic anemias
4) leukemia
5) erythroblastosis

1 Answer

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Final answer:

The genetic disease with fragile, sickle-shaped erythrocytes is sickle cell anemia, caused by mutations leading to abnormal hemoglobin S production.

Step-by-step explanation:

The genetic disease characterized by fragile, abnormally shaped erythrocytes and mutations in ankyrin or spectrin is sickle cell anemia. This condition involves a mutation in one of the hemoglobin genes, causing erythrocytes to produce an abnormal type of hemoglobin, hemoglobin S. This abnormal hemoglobin changes the shape of the red blood cells to a characteristic sickle or crescent shape.

These sickle-shaped cells are prone to getting stuck in narrow blood vessels, obstructing blood flow, and leading to a variety of health issues such as pain, swelling, and organ damage. Sickle cell anemia is particularly prevalent among individuals of African descent and is known to confer a protective advantage against malaria in heterozygous carriers.

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