Figure 2. Pedigree of a family carrying the ABCB6 R192Q mutation– co-segregation of the heterozygous mutation with reduced erythrocytic ABCB6 expression levels.

Blood samples obtained from the family members of the healthy volunteer proband carrying the R192Q ABCB6 mutation (indicated with black arrow) were analyzed for ABCB6 expression and the presence of the mutation. The upper panel represents a heterozygous R192Q (c.575G>A) sequence. The lower panel shows the segregation of R192Q heterozygosity (marked with green half circles and squares for females and males, respectively) with reduced ABCB6 expression in erythrocytes (values in parentheses).