A 15-Year-Old Boy Is Found to Have Unexplained Erythrocytosis on Routine

A 15-year-old boy is found to have unexplained erythrocytosis on routine laboratory analysis.  Evaluation of his immediate family shows that his father and sister also have elevated red cell levels.  Genetic sequencing of the β-globin gene is performed in the affected family members.  The results show a single base substitution at amino acid position 82 that replaces the normal lysine residue with methionine.  Further analysis shows that this amino acid replacement impairs the ionic interaction between the β-subunit and 2,3-bisphosphoglycerate.  As a result of this mutation, the patient's hemoglobin will be most similar to which of the following hemoglobin types?

A) Hemoglobin A_1c
B) Hemoglobin C
C) Hemoglobin F
D) Hemoglobin H
E) Hemoglobin S

Correct Answer:

Verified

Unlock this answer now
Get Access to more Verified Answers free of charge

Access For Free