Genetic diagnosis history and osteoarticular phenotype of a non-transfusion secondary hemochromatosis

Figure 3 Bone marrow smear and genetic analysis. A: Bone marrow smear showed erythroid cell hyperplasia, with polychromatic normoblasts. Nucleocytoplasmic development was imbalanced, with visible binuclear and mitotic types. Mature erythrocytes differed in size, which included partially large spherocytes 3%, teardrop 4%, irregular 5%, and fragmented 3% cells. Visible polychromatic erythrocytes and corpuscles were observed. Extracellular iron ++, intracellular iron -19%, +45%, ++28%, +++6%, ringed sideroblasts 2%; B: Blood smear showed obvious erythrocyte hyperplasia, possibly due to hemolytic anemia; C: Two heterozygous deletion mutants of the -α^4.2, --^SEA carrying globin gene were finally detected; D-H: The patient had p.C282Y and p.H63D of HFE gene, p.R459H and p.H32R of G6PD gene which were wild-type; F: His daughter carried a heterozygous p.H63D mutation of HFE gene; I-K: The patient showed p.A1583V mutation of PIEZO1 gene, p.I103V mutation of POFUT1 gene, and p.Q170R mutation of TGM5 gene.