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?
That is, extra copy of one of the alpha genes resulting in an atypical alpha thalassemia for the patient, and beta thalassemia heterozygous carrier for the partner.
1 Answer
Mednet MemberInvited Expert
Hematology · Boston University School of Medicine
Answered on
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...
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