A member asked:

Can you please explain the genotype of a sickle cell?

3 doctors weighed in across 2 answers

A>T mutation: A single point mutation in the dna (an "a" is mutated into a "t") leads to a glutamic acid being replaced by a valine in the hemoglobin protein. To have sickle cell disease, both copies of the gene encoding for hemoglobin have this mutation, leading to the disease.

Answered 8/18/2013

5.1k views

Thank
Dr. Craig MacArthur answered

Specializes in Pediatric Hematology and Oncology

Not sure.: There are several genotypes that we call sickle cell anemia. Usually, sickle cell anemia is same as homozygous sickle cell anemia (hbss). Other sickle cell genotypes are sickle beta-thalassemia (hbs-beta-thal), sc disease (hbsc), and less commonly hbsd. These genotypes all give sickle cell phenotypes.

Answered 9/8/2013

4.9k views

Thank

Related Questions

A member asked:

Please tell me the cause of sickle cell anemia?

5 doctors weighed in across 2 answers

A member asked:

Please describe another medical name for sickle cell anemia?

4 doctors weighed in across 2 answers

A member asked:

Is sickle cell anemia hereditary?

6 doctors weighed in across 3 answers

A member asked:

How is sickle cell anemia detected?

A doctor has provided 1 answer