Table 3.

Genotype/Phenotype Correlations in Congenital Erythropoietic Porphyria:

Phenotype	Genotype	Residual Activity Expressed in E.coli Alleles/Total
Hydrops Fetalis/Newborn Demise:
	C73R/C73R	<0.l / <0.l	= <0.1
Transfusion Dependent:
Severe	C73R/T228M	<0.1 / <0.1	= <0.1
Transfusion Independent:
Moderate	T62A/E249X	<0.1 / 1.8	= 1.8
	G225S/T228L	2.1 / <0.1	= 2.1
	L4F/C73R	2.9 / <0.1	= 2.9
	L4F/Deletion	2.9 / 0	= 2.9
	L4F/IVS2+1	2.9 / ?	= 2.9
Mild	Y19C/G225S	2.7 / 2.1	= 4.8
	V99A/Ins211A	3.7 / 1.7	= 5.4
	C73R/A104V	<1.0 / 5.6	= 5.6
	A66V/C73R	14.5 / <0.1	= 14.5
	L4F/V82F	2.9 / 24.2	= 27.1

Desnick, RJ & Astrin, [10]