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Wednesday, April 16, 2014
Sickle Cell Anemia
Sicke Cell - What chromosomes are affected?
What are the chromosomes that are affected by Sickle Cell Disease?
In sickle cell disease, the gene that produces hemoglobin, called HBB, has been changed or mutated (hemoglobin S). This gene is located on chromosome 11 (11p15).
Because sickle cell disease is inherited in an autosomal recessive fashion, both parents of a child with sickle cell anemia are carriers of the mutation in the HBB gene coding for hemoglobin S. That means they have a change in the gene on 1 of their chromosome 11s (chromosomes come in pairs). Someone who has one normal gene and one gene that codes for hemoglobin S is called a carrier. They do not have any health problems. If they have children with someone who is also a carrier for hemoglobin S there is a one in four or 25% chance the child will get two genes for hemoglobin S and have sickle cell disease.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University