Which disorder is typically linked to an enzyme defect in the HMP shunt pathway?

Prepare your best for the AAB MT Hematology Exam. Utilize flashcards and multiple choice questions, complete with explanations and hints. Ace the exam!

The disorder associated with an enzyme defect in the HMP (hexose monophosphate) shunt pathway is glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. This deficiency results from a defect in the G-6-PD enzyme, which is crucial for the proper function of the HMP shunt. This pathway is important for generating NADPH and producing ribose-5-phosphate for nucleotide synthesis. NADPH plays a significant role in protecting red blood cells from oxidative stress.

In individuals with G-6-PD deficiency, the inability to adequately produce NADPH leads to impaired protection against oxidative damage. As a result, these individuals may experience hemolytic anemia when exposed to certain oxidative stresses, such as infections, medications, or certain foods. The condition is often highlighted in discussions about hereditary enzyme deficiencies impacting red blood cell stability and overall function.

The other disorders listed do not specifically involve defects in the HMP shunt pathway or the G-6-PD enzyme. Chronic lymphocytic leukemia is a type of cancer affecting the blood and bone marrow, while iron deficiency anemia is related to insufficient iron levels and does not stem from an enzyme defect. Sickle cell anemia is a genetic disorder caused by

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