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]