Frequently asked question: What abnormality in the DNA leads to sickle cell disease?

Sickle cell disease is a hereditary disease. The genetic material (the DNA) is contained in the chromosomes. Every child receives 46 chromosomes from its parents, 22 chromosomes and one sex-determination chromosome from the mother and 22 chromosomes and one sex-determination chromosome from the father. The chromosomes are the carriers of the genes. In SCD, a change (mutation) on the short arm of chromosome 11 in the beta globin gene leads to an alteration of the genetic material. As a result, a different genetic code is used to create and structure the body. In this specific case, it leads to the creation of an abnormal beta globin chain that causes a change in the composition of the HbA1.

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Frequently asked question: What abnormality in the DNA leads to sickle cell disease?

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