Table 3 Genotype and phenotype of family... | American Society of Hematology

Table 3

Genotype and phenotype of family H from Thailand with type 4 hemochromatosis

Sex	Age at diagnosis, y	Iron indices				MCV, fL	Hb, g/dL	HbA₂, %	MCH, pg	FBS, mg/dL	ALT, U/L	AST, U/L	FPN mutation
Sex	Age at diagnosis, y	Tsat, %	Ferritin, μg/L	SI, μmol/L	TIBC, μmol/L	MCV, fL	Hb, g/dL	HbA₂, %	MCH, pg	FBS, mg/dL	ALT, U/L	AST, U/L	FPN mutation
M	47	95.9	4232	56.6	59.1	101	12.4	2.2	35.1	300	85	67	C326Y/WT
F	41	93.8	481	74.0	78.9	101	14.1	2.6	35.0	83	24	26	C326Y/WT
M*	38	99.6	4326	66.1	66.4	99	15.5	2.4	33.0	90	101	66	C326Y/WT
F	33	80.0	552	52.9	66.4	103	13.7	2.4	34.4	81	31	28	C326Y/WT

Sex	Age at diagnosis, y	Iron indices				MCV, fL	Hb, g/dL	HbA₂, %	MCH, pg	FBS, mg/dL	ALT, U/L	AST, U/L	FPN mutation
Sex	Age at diagnosis, y	Tsat, %	Ferritin, μg/L	SI, μmol/L	TIBC, μmol/L	MCV, fL	Hb, g/dL	HbA₂, %	MCH, pg	FBS, mg/dL	ALT, U/L	AST, U/L	FPN mutation
M	47	95.9	4232	56.6	59.1	101	12.4	2.2	35.1	300	85	67	C326Y/WT
F	41	93.8	481	74.0	78.9	101	14.1	2.6	35.0	83	24	26	C326Y/WT
M*	38	99.6	4326	66.1	66.4	99	15.5	2.4	33.0	90	101	66	C326Y/WT
F	33	80.0	552	52.9	66.4	103	13.7	2.4	34.4	81	31	28	C326Y/WT

Normal values for transferrin saturation (Tsat) were 15%-45%; ferritin, 15-200 μg/L for females, 40-300 μg/L for males; serum iron (SI), 10-30 μmol/L; total iron binding capacity (TIBC), 40-75 μmol/L; mean corpuscular volume (MCV), 80-95 fL; Hb, 11.5-15.5 g/dL for females, 13.5-17.5 g/dL for males; HbA₂, < 3.5%; mean corpuscular hemoglobin (MCH), 27-34 pg; fasting blood sugar (FBS), 70-100 mg/dL; alanine aminotransferase (ALT), <40 U/L; and aspartate aminotransferase (AST), <37 U/L.

Proband.

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