Hbvarianter

Hbvarianter are genetic variants of hemoglobin, the oxygen-carrying protein in red blood cells. They arise from mutations in the globin genes, most commonly in the beta-globin gene (HBB) and, less frequently, in alpha-globin genes (HBA). The resulting changes can alter the amino acid sequence, stability, or function of the hemoglobin molecule. Many Hbvarianter are rare or benign, but some affect oxygen transport, red blood cell behavior, or overall health.

The best known Hbvarianter is HbS, which causes sickle cell disease when inherited from both parents. Other common variants include HbC and HbE, each with distinct biochemical effects and regional distributions. Mutations may lead to abnormal polymerization of hemoglobin in low-oxygen conditions, reduced stability and increased hemolysis, or impaired production of normal hemoglobin. Some variants are categorized as unstable hemoglobins and can cause hemolytic anemia. Diagnostic testing for Hbvarianter includes hemoglobin electrophoresis and high-performance liquid chromatography, with DNA sequencing used to identify the exact mutation.

Inheritance of disease-causing Hbvarianter is typically autosomal recessive; carriers (heterozygotes) are often asymptomatic or mildly affected. When two different variants coexist (compound heterozygosity), clinical phenotypes can vary in severity. Management depends on the specific variant and its effects, ranging from routine monitoring to supportive care, transfusion in anemia, and disease-modifying therapies in certain cases. Hbvarianter are of interest in population genetics, as their distribution is influenced by ancestry and geographic history, and they inform screening, diagnosis, and emerging gene-based treatment approaches.