Association of C₈ Deficiency with Sickle-Thalassemia Hemoglobinopathy

Three pedigrees with hereditary C₈ deficiency have thus far been reported. All three propositi have been black. Two additional cases of selective C₈ deficiency are reported here, a black female with complete deficiency of C₈ and a black male with approximately 50% of the C₈ normal mean. Both have sickle-thalassemia hemoglobinopathy (S-T) with virtually identical percentages of A₂, F and S hemoglobin. The female has two offspring that carry only the sickle trait and have normal C₈ levels. Family studies have not been possible in the second case. Four additional patients with sickle-thalassemia hemoglobinopathy have been thus far studied. All have normal C₈ levels, but their hemoglobin patterns while diagnostic for S-T disease differ significantly from the first two cases studied. The C₈ levels in several cases of sickle cell, sickle trait, thalassemia, and thalassemia trait disease, thus far studied have been normal.