What is the term for the abnormal hemoglobin variant that results from a point mutation in the HBB gene, leading to the substitution of glutamic acid with valine at position 6 of the beta-globin chain?

A Hemoglobin C
B Hemoglobin S ✓
C Hemoglobin E
D Hemoglobin D

Explanation

Hemoglobin S is the abnormal hemoglobin variant that results from a point mutation in the HBB gene, leading to the substitution of glutamic acid with valine at position 6 of the beta-globin chain, causing sickle cell disease.

Source

NCBI Genetic Testing Registry
Hematology Hematology: Hemoglobin and Oxygen Transport Hematology: Hemoglobin and Oxygen Transport Hard MEDICAL Confidence: high