Table 2 Plasma complement component... | American Society of Hematology

Table 2

Plasma complement component level and molecular genetic abnormalities found in 11 patients with HELLP syndrome

Patient	C3, mg/L	C4, mg/L	CFB, mg/L	CFH, mg/L	CFI, mg/L	MCP, MFI	Genetics abnormality	Mutations	Mutation characteristics
1	829	304	144	719	88	nd	CFH	pArg303Gln	Located in the SCR-1/5 fragment of FH, which is important for cofactor, C3b-binding, and decay-accelerating activity
2	1020	232	135	657	75	791	CFI	pArg345Gln (c1034G>A)	Located near the previously reported mutation I322T; functional analysis revealed a marked defect in both C3b and C4b cofactor activity¹⁰
3	899	217	127	540	70	359	CFI	pHist183Arg (c548A>G)	Located in the heavy chain domain that is important for C3b binding and the restriction of CFI¹⁰
4	912	199	125	652	77	966	MCP	pAla304Val	A304V mutation leads to deficiency in MCP to control the alternative pathway of complement activation on a cell surface¹¹
5	664	169	85	555	54	1096
6	639	109	82	474	58	894
7	976	245	75	836	99	906
8	1150	254	151	714	60	nd
9	779	231	125	591	67	968
10	1170	354	150	759	72	985
11	1150	314	156	708	84	1246
Normal values	660-1250	93-320	90-320	338-682	42-78	600-1500

Patient	C3, mg/L	C4, mg/L	CFB, mg/L	CFH, mg/L	CFI, mg/L	MCP, MFI	Genetics abnormality	Mutations	Mutation characteristics
1	829	304	144	719	88	nd	CFH	pArg303Gln	Located in the SCR-1/5 fragment of FH, which is important for cofactor, C3b-binding, and decay-accelerating activity
2	1020	232	135	657	75	791	CFI	pArg345Gln (c1034G>A)	Located near the previously reported mutation I322T; functional analysis revealed a marked defect in both C3b and C4b cofactor activity¹⁰
3	899	217	127	540	70	359	CFI	pHist183Arg (c548A>G)	Located in the heavy chain domain that is important for C3b binding and the restriction of CFI¹⁰
4	912	199	125	652	77	966	MCP	pAla304Val	A304V mutation leads to deficiency in MCP to control the alternative pathway of complement activation on a cell surface¹¹
5	664	169	85	555	54	1096
6	639	109	82	474	58	894
7	976	245	75	836	99	906
8	1150	254	151	714	60	nd
9	779	231	125	591	67	968
10	1170	354	150	759	72	985
11	1150	314	156	708	84	1246
Normal values	660-1250	93-320	90-320	338-682	42-78	600-1500

Patients with identified mutations in CFH, CFI, and MCP genes are shown in bold; patients with features of an abnormal control of the complement alternative pathway and no identified mutations in CFH, CFI, and MCP genes are shown in italics. Abnormal values of C3 and Factor B levels are shown in bold.

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