In an autosomal recessive genetic disorder i.e. sickle cell anemia in a two kids family, if the status of grandfather is not known whereas grandmother is carrier. Status of indexed patient’s father is homozygous and brother is heterozygous, what is the status of mother of Sickle cell anemia of indexed patient ?
Mother will definitely be a carrier of HbS trait if index patient has HbSS.If index patient has HbS/beta Thal or HbSC, mother could be carrier of the beta than trait or HbC trait.
Depends on the indexed patient status. If the indexed patient is HBAS (similar to the brother) so the mother could be HBAS (carrier) or HBAA (normal). However if the indexed patient is HBSS so the mother definitely carrier for the HBS gene (HBAS).
As Sickle cell disease is an autosomal recessive disease, and the indexed patient's(HbSS) father is homozygous(HbSS) and brother is heterozygous(HbAS), mother has to be a carrier or sickle cell trait(HbAS). The patient probably aquired an additional de novo mutation in the other gene.
I agree with Raghuveer. If the patient is HbSS, the brother HbSs, the mother is heterozygous. Sickle cell disease is autosomical recessive in a bi allelic system.
Thanks all for the answer, this question was only related to status of sickle cell anemia, of index patient's mother.
Yes, mother should be AS (sickle cell carrier), as one normal allele HbA from mother is inherited in brother of index patients and that's why he is carrier (Hb AS) and one of the sickle allele HbS is inherited from same mother to the index patient and the index patients father only have S allele and not the A allele.
I would like to thanks all of you, as this helped me to confirm theoretically status of the mother.
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