A couple presents in your office for genetic consult about risk of having a chil

Question

A couple presents in your office for genetic consult about risk of having a child with sickle cell disease/anemia. One member of the couple, Josah is from the Northern Greece, his wife, Cheryl is of African American descent. Josah’s risk of being a carrier is 1 in 100 and his wife’s risk of being a carrier is 1 in 12. Consider each scenario separately! Give the risk of the couple having an AFFECTED child?

Both individuals have no family history of sick cell anemia.

Cheryl has no history, but Josah is tested and found to be heterozygous for the sickle cell allele.

Cheryl reveals in giving family history that she has a maternal grand-parent who had sickle cell anemia. Josah has no family history of sickle cell anemia.

Explanation / Answer

As Cheryl maternal grand parent is diseased and the place from where she belongs indicates that she might be a carrier(Aa) and as given joseph is heterozygous (Aa) than there is 25% probability of child being diseased(aa).

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