3. A 52 year-old male arrives at your clinic because recently he attempted to fl

Question

3. A 52 year-old male arrives at your clinic because recently he attempted to fly for the first time in his life. At the airport, he set the metal detector off even though he was carrying no metal and had no metal implants anywhere. He has no remarkable past medical history or family history that he knows of, although he was adopted. His physical examination is within normal limits. You find that his serum ferritin is > 1000 ng/mL. Which of the following is true regarding this disease? A. It is caused by an inability to secrete excess copper B. Usually, only one copy of the mutated gene is needed to express the phenotype and the gene is on the X chromosome C. Usually, only one copy of the mutated gene is needed to express the phenotype and the gene is on an autosome D. Usually, two copies of the mutated gene are necessary to express the phenotype E. The disease inheritance pattern is polygenic 9

Explanation / Answer

High levels of serum ferritin in the body is an indication of hemochromatosis.  It is an asymptomatic genetic disorder and an autosomal recessive condition. An autosomal recessive condition is one in which a person needs two mutated genes to express the phenotype. The mutated genes are acquired from both the parents, who are referred to as the carriers of the mutated genes.

Option A is incorrect as this disease is not related to copper.

Option B and C are incorrect as this condition requires two mutated genes not one.

Option E is incorrect as the condition is not polygenic.

Thus, the correct answer is option D.

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