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Table 1 Biochemical and clinical parameters of the affected members of the two pedigrees studied

From: Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome

  Pedigree 1 Pedigree 2  
Characteristic III:2 (proband) III:4 III:9 IV:1 IV:2 IV:3 IV:1 (proband) III:2 Normal values
Age at diagnosis (years) 54 53 48 27 27 25 19 40  
Sex F F M F M M M M  
Hb (g/dl) 13.2 13.1 15.3 13.4 14.3 14.7 15.6 15 ♂ 13,8–18
♀ 12,1–15,1
MCV (fl) 92.3 96 94.1 91.3 85.1 83.4 80.9 80,6 79–99
CRP (mg/L) <5 - 4 <5 <5 - 4 - 5–10
Serum iron (μg/dl) 74 56 79 37 124 243 127 111 37–170
TIBC (μg/dl) 361 - 342 372 327 424 - - 250–450
Serum ferritin (ng/ml) 719 534 952 239 303 447 1290 1260 ♂ 12–300
♀ 12–200
Transferrin (mg/dl) 252 - - 260 229 296 291 300 200–360
Transferrin saturation (%) 20 - 23.1 10 38 57 31 25 20–55
ALT (mU/ml) 28 17 35 21 38 14 - - 14–36
AST (mU/ml) 35 20 40 20 30 30 27 33 9–52
Cataract diagnosis (years) 20 17 20 - 27 - 16 16  
Cataract surgery (years) 39 - - - - - - -  
HFE gene mutation H63D+/−, S65C−/−, C282Y−/− H63D−/−, S65C−/−, C282Y−/− H63D+/+, S65C−/−, C282Y−/− H63D−/−, S65C−/−, C282Y−/− H63D−/−, S65C+/−, C282Y−/− H63D−/−, S65C−/−, C282Y−/− H63D−/−, S65C−/−, C282Y−/− -  
Mutation IRE L-ferritin c.[−164C > T] + c.[−164C > T] c.[−164C > T] + c.[−164C > T] c.[−164C > T] + [=] c.[−164C > T] + [=] c.[−164C > T] + [=] c.[−164C > T] + [=] c.[−148 G > C] + [=] c.[−148 G > C] + [=]  
  Badalona +36C > U Badalona +36C > U Badalona +36C > U Badalona +36C > U Badalona +36C > U Badalona +36C > T Heidelberg +52 G > C Heidelberg +52 G > C  
  1. Reference values are indicated in the last column. The following abbreviations were used: Hb, hemoglobin; MCV, mean corpuscular volume; CRP, C-reactive protein; ALT, alanine aminotransferase; AST, apartate aminotransferase. HFE gene mutations refer only to C282Y, H63D and S65C mutations.