Table 1

Hematologic parameters for 4 subjects carrying the KCNN4 c.1055G>A mutation (representative values in steady-state conditions)

Hb (g/L)MCV (fL)Reticulocytes count (G/L)MCHC (g/L)Platelets (G/L)Ferritin (μg/L)
Normal range for adults 130-160 80-100 20-80 310-350 150-400 22-322 
Family 1: IV-3 98 87.9 263 356 319 116 
Family 1: III-3 85 109 255 354 783 94 
Family 2: II-1 110 93.1 249 361 230 ND 
Family 2: III-1 104 86.9 363 365 464 121 
Hb (g/L)MCV (fL)Reticulocytes count (G/L)MCHC (g/L)Platelets (G/L)Ferritin (μg/L)
Normal range for adults 130-160 80-100 20-80 310-350 150-400 22-322 
Family 1: IV-3 98 87.9 263 356 319 116 
Family 1: III-3 85 109 255 354 783 94 
Family 2: II-1 110 93.1 249 361 230 ND 
Family 2: III-1 104 86.9 363 365 464 121 

ND, not determined.

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