Which condition is most related to genetic factors affecting hemoglobin?

Study for the Funeral National Board Pathology Exam. Tackle multiple choice questions insightfully designed with hints and explanations to ensure your success. Prepare efficiently for your exam!

Sickle Cell Anemia is primarily related to genetic factors affecting hemoglobin. This condition arises from a specific mutation in the HBB gene, which encodes the beta-globin subunit of hemoglobin. Individuals with this genetic alteration produce abnormal hemoglobin known as hemoglobin S (HbS). Under low oxygen conditions, HbS can polymerize, causing red blood cells to deform into a sickle shape. This leads to a range of complications, including vaso-occlusive crises and increased hemolysis.

The association between genetic factors and hemoglobin is the hallmark of Sickle Cell Anemia, as the disease is inherited in an autosomal recessive pattern. Affected individuals must inherit one copy of the mutated gene from each parent to express the disease. In contrast, the other conditions listed, such as thrombocytopenia, pernicious anemia, and hemophilia, are not primarily caused by genetic mutations affecting hemoglobin. Thrombocytopenia is a condition characterized by low platelet counts, pernicious anemia is related to vitamin B12 deficiency often due to intrinsic factor issues, and hemophilia is associated with deficiencies in clotting factors, not hemoglobin itself.

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