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Marfan syndrome
10%
12/120
Sickle cell anemia
21%
25/120
Hemophilia A
42%
50/120
Beta thalassemia
11%
13/120
Rett syndrome
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The infant has glucose-6-phosphate dehydrogenase deficiency (G6PD) and is experiencing a hemolytic anemic crisis due to the TMP-SMX the mother is taking, which in excreted in breast milk. G6PD deficiency has a similar mode of inheritance as hemophilia A, which is also X-linked recessive. G6PD deficiency is an X-linked recessive disease caused by a deficiency of the enzyme resulting in episodic anemia crisis. G6PD is an enzyme in the pentose phosphate shunt pathway that helps produces NADPH which is further used to regenerate glutathione, a molecule involved in neutralizing oxygen radicals and hydrogen peroxide. In the absence of G6PD, no NADPH is produced. This results in decreased glutathione production, leaving the erythrocytes vulnerable to damage by free radicals and lysis. Offending agents such as fava beans, dapsone, sulfonamides, quinine, and primaquine increase oxidative stress and will precipitate hemolytic anemia crises. Incorrect Answers: Answer 1: Marfan syndrome is inherited in an autosomal dominant manner. Answer 2,4: Sickle cell anemia and beta thalassemia are inherited in an autosomal recessive manner. Answer 5: Rett syndrome is inherited in an X-linked dominant manner.
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