If a man with hereditary hemochromatosis has children with a woman who is a carrier for the disorder, what is the expected risk pattern?

Question

Quizplus · Accepted Answer

The disease is expressed in an autosomal-recessive pattern of inheritance, and the individual must be homozygous to express the disease. Although males express the disorder at earlier ages than females, both genders are equally expressed. Because the man is homozygous for the mutation, and the woman is heterozygous, any children he fathers have a 4 out of 4 chance (100% risk) to inherit a mutated allele from him. Each child has a 2 out of 4 chance (50% risk) to inherit a mutated allele from the carrier woman. There is no chance for children of this couple to not inherit at least one mutated allele.

If a Man with Hereditary Hemochromatosis Has Children with a Woman