HbAHbC

HbAHbC, commonly referred to as HbA/HbC or HbAC, is a hemoglobinopathy in which an individual carries one normal beta-globin gene (HbA) and one mutant beta-globin gene producing hemoglobin C (HbC). This genotype results from inheriting one HbA allele and one HbC allele and is usually considered a carrier state with generally mild or no symptoms.

HbC arises from a Glu6Lys substitution in the beta-globin chain. In individuals with HbAC, HbA remains the predominant form, while HbC is present in a substantial but smaller fraction. The condition is most often found in people of West African descent and can be observed in populations with shared ancestry.

Clinically, HbAC is typically mild or asymptomatic. Some individuals may have mild, chronic anemia and slight red blood cell abnormalities, such as target cells, on blood smear. Sickling, a hallmark of sickle cell disease, does not occur with HbC in this heterozygous state, so painful crises are uncommon. Most people with HbAC lead normal, healthy lives, though rare individuals may experience gallstones or splenomegaly due to mild hemolysis.

Diagnosis is made by hemoglobin electrophoresis or high-performance liquid chromatography (HPLC), which show a mixture of HbA and HbC with no HbS detected. The exact proportions vary among individuals.

Management for HbAC is generally not necessary beyond routine medical care. Genetic counseling can be useful for family planning, as the child’s genotype depends on the partner’s allele. The prognosis is good, and HbAC does not typically affect life expectancy.