Certified Pediatric Hematology Oncology Nurse (CPHON) Practice Exam 2025 - Free CPHON Practice Questions and Study Guide

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What is a major effect of three gene deletions in alpha thalassemia?

Hydrops Fetalis

Significant anemia

Hemoglobin H

In cases of alpha thalassemia, the deletion of three genes leads to a specific condition known as Hemoglobin H disease. This form of alpha thalassemia occurs when there is a significant deficiency in the production of alpha globin chains, resulting in an excess of beta globin chains that form abnormal tetrameric structures known as Hemoglobin H.

Hemoglobin H is characterized by a higher affinity for oxygen compared to normal hemoglobin but does not release oxygen effectively to tissues, leading to a range of complications. This condition typically presents with moderate to severe anemia and microcytosis due to ineffective erythropoiesis, but the hallmark of this specific genetic alteration is indeed the presence of Hemoglobin H.

Understanding this genetic impact is crucial in pediatric oncology nursing, as it allows practitioners to recognize and manage the varying presentations of hemoglobinopathies in children.

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Mild microcytic anemia

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