Hemoglobin C Trait: Understanding the Asymptomatic Variant
What is Hemoglobin C Trait?
Hemoglobin C trait is a genetic condition characterized by the presence of one normal hemoglobin A gene (HbA) and one variant hemoglobin C gene (HbC). This heterozygous condition does not manifest any clinical symptoms and is unrelated to sickle cell disease.
Relative Protection and Diagnosis
Individuals with hemoglobin C trait have a relative protection against severe Plasmodium falciparum malaria. The diagnosis can be confirmed through electrophoresis or high-performance liquid chromatography (HPLC).
Health Risks and Personalized Medicine
While health risks for heterozygotes are generally low, intrinsic factors like other genomic variants and co-morbidities, as well as extrinsic environmental influences, can impact their health outcomes. Personalized genomic medicine and risk counseling can help individuals understand their specific risks and adopt appropriate preventive measures.
HbSC Disease: A Variant of Sickle Cell Disease
Patients who are heterozygous for HbS and HbC (HbSC) constitute about a third of sickle cell disease (SCD) cases. This makes HbSC disease the second most common form of SCD, with approximately 80,000 births per year worldwide. The clinical presentation and severity of HbSC disease differ from that of homozygous HbSS individuals.
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