Figure 5.

Homozygosity for SOD1 C112X results in anaemia with low haemoglobin, reduced red blood cell counts, and shortened lifespan. Patients homozygous for the C112X variant (C112X^Hom) show a haematological phenotype with reduced haemoglobin (Hb) (C) and red blood cell (RBC) (D) counts when compared to age-matched heterozygous carriers (C112X^Het paediatric) and heterozygous adults (C112X^Het adult). The mean corpuscular volume (MCV) was increased in homozygous patients but did not reach statistical significance. Significantly decreased HbA1c values indicated decreased erythrocyte lifespans. Plasma (P) fructosamine levels were within reference ranges (box) with no statistically significant difference between C112X^Hom and C112X^Het carriers, indicating non-diabetic metabolic state (B). No significant difference was seen between levels of neutrophils (homozygous: n = 6 for RBC (D), MCV (E), and neutrophils (F), n = 7 for haemoglobin, and n = 5 for HbA1c (A) and fructosamine (B), heterozygous children: n = 4, heterozygous adults: n = 4 for RBC, MCV, and neutrophils, n = 7 for HbA1c, and n = 11 for fructosamine). Data presented as mean ± SD. Means were compared using Mann–Whitney U or Kruskal–Wallis tests, followed by followed by Dunn’s multiple comparisons test. * P < 0.05, ** P < 0.01, *** P < 0.001.