Table 5

Genotypes, biochemical iron parameters, and clinical data for relatives of patients in table 4, found through family screening, and carrying the S65C variant

Relative NoSexAge (y)GenotypeHb (g/l)Ferritin (μg/l)TS (%)ALT (U/l)Liver biopsyPhlebotomyOutcome
Hb, haemoglobin concentration; TS, transferrin saturation; ALT, alanine aminotransferases; HIS, hepatocyte iron score; SIS, sinusoidal iron score; ND, not determined.
1F51S65C/S65C12217817NDNoIron deficiency
2F54C282Y/S65C1482513157NDNoHealthy
3M26C282Y/S65C1521065129NDNoSurveillance
4F29H63D/S65C140304232NDNoHealthy
5F26H63D/S65C139277041NDNoSurveillance
6F33S65C/N135361514NDNoHealthy