How do you perform fertility counseling for a patient with a duplication of one of the alpha genes and their partner who has a beta chain point mutation?
1 Answers
Mednet Member
Hematology · Boston University School of Medicine
There is a 25% chance that a fetus would inherit the alpha-globin genotype ααα:αα and a 25% chance of inheriting the beta-globin genotype βT:β. One family study suggested that the compound heterozygous genotype ααα:αα/βT:β had no clinical manifestations and resembled beta-thalassemia trait. (1) Howe...