Hereditary hemochromatosis is an autosomal recessive genetic disorder that causes the body to absorb too much iron from the diet. This excess iron is stored in the body's tissues and organs, particularly the skin, heart, liver, pancreas, and joints. Because humans cannot increase the excretion of iron, excess iron can overload and eventually damage tissues and organs. A man who had hemophilia (an X-linked recessive genetic disorder), married a woman who had no family history of hemophilia whatsoever. The couple had consulted a genetic counselor when they first contemplated having children due to concerns that their future children might have hemophilia. Genetic testing of both future parents revealed that the husband did, in fact, possess the Hemophilia A allele but his wife was completely normal with respect to hemophilia. Much to their shock, their first child, a daughter, had a mild blood clotting disorder. Karyotyping was performed to determine whether this daughter had an aneuploid condition, and her karyotype was normal. (46, XX). Assuming that no new mutation was present in their daughter, offer a genetic explanation for her mild bleeding disorder. Be sure to name and explain the genetic phenomenon and any relevant hypotheses associated with her mild symptoms.
Hereditary hemochromatosis is an autosomal recessive genetic disorder that causes the body to absorb too much iron from the diet. This excess iron is stored in the body's tissues and organs, particularly the skin, heart, liver, pancreas, and joints. Because humans cannot increase the excretion of iron, excess iron can overload and eventually damage tissues and organs.
A man who had hemophilia (an X-linked recessive genetic disorder), married a woman who had no family history of hemophilia whatsoever. The couple had consulted a genetic counselor when they first contemplated having children due to concerns that their future children might have hemophilia. Genetic testing of both future parents revealed that the husband did, in fact, possess the Hemophilia A allele but his wife was completely normal with respect to hemophilia. Much to their shock, their first child, a daughter, had a mild blood clotting disorder. Karyotyping was performed to determine whether this daughter had an aneuploid condition, and her karyotype was normal. (46, XX). Assuming that no new mutation was present in their daughter, offer a genetic explanation for her mild bleeding disorder. Be sure to name and explain the genetic phenomenon and any relevant hypotheses associated with her mild symptoms.
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