Because this hemoglobin is not affected by the inherited gene mutation that causes sickle cell disease, the cell culture findings may give rise to a new therapy for the debilitating blood disorder.

Hemoglobin E (HbE) is an abnormal ... When this mutation is coinherited with a β-thalassemia mutation, patients are classified as having HbE–β-thalassemia, which can vary in severity from mild ...

A Mutation Story: A gene known as HbS was the center of a medical and evolutionary detective story that began in the middle 1940s in Africa. Doctors noticed that patients who had sickle cell ...

If both biological parents carry the HBB gene with the mutation that produces hemoglobin-S, there is a 25% risk that each child they have will be born with sickle cell anemia.

Further molecular analysis identified both patients to be compound heterozygotes for the hemoglobin S mutation of β-globin codon 6 Glu→Val (GAG→GTG) [HBB c.20A→T] and for the hemoglobin New ...

The two genes that switch off the fetal hemoglobin gene by binding directly to it are called BCL11A and ZBTB7A. "The beneficial mutations work by disrupting the two sites where these two genes ...

Mutations in the genes that build hemoglobin can cause various blood diseases. The most well-known of these is sickle cell anemia (SCA). SCA is the most common genetic disease in the United States.