Table 3. Clinical information of the 3... | American Society of Hematology

Table 3.

Clinical information of the 3 patients with ferroportin mutations

Patient no.	Age, y/sex	Serum iron, μM	TIBC, μM*	Transferrin Saturation, %	Serum ferritin, μg/L	Mutation*	Cataract
48	61/M	23	50	44	4069	Exon 5, 774A>G; Asp157Gly	None
38	63/M	8	46	16	3018	Exon 6, 850G>T; Gln182His	Bilateral cataract (46 y)
39	49/F	Normal	NA	Normal	1700-2000	Exon 7, 1272G>T; Gly323Val	Bilateral cataract (operated at age 42 y)

Patient no.	Age, y/sex	Serum iron, μM	TIBC, μM*	Transferrin Saturation, %	Serum ferritin, μg/L	Mutation*	Cataract
48	61/M	23	50	44	4069	Exon 5, 774A>G; Asp157Gly	None
38	63/M	8	46	16	3018	Exon 6, 850G>T; Gln182His	Bilateral cataract (46 y)
39	49/F	Normal	NA	Normal	1700-2000	Exon 7, 1272G>T; Gly323Val	Bilateral cataract (operated at age 42 y)

Numbering is from the human ferroportin cDNA (GenBank accession no. AF226614). NA indicates not available.

TIBC indicates total iron binding capacity. Normal value is 45-75 μM.