SA: Laboratory Diagnosis of Inherited Porphyrias - LabCE.com, Laboratory Continuing Education

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SA: Laboratory Diagnosis of Inherited Porphyrias

Focusing on the laboratory diagnosis of sideroblastic anemia, the following table summarizes findings associated with inherited forms.

Table 10. Laboratory Findings in Select Inherited Porphyria.⁶

	Congenital Erythropoietic Porphyria (CEP)	Erythropoietic Protoporphyria (EPP)	X-Linked Erythropoietic Protoporphyria (XLEPP)
Affected Enzyme	Uroporphyrinogen III synthase deficiency	Ferrochelatase deficiency	ALA-synthase 2 (gain of function)
Affected Gene	UROS	FECH	ALAS2
Inheritance Pattern	Autosomal recessive	Autosomal recessive	X-linked dominant
RBC Protoporphyrin	Normal	Marked increase	Slight increase
RBC Uroporphyrin	Marked increase	Normal	Normal
RBC Coproporphyrin	Moderate increase	Normal	Normal
Urine Protoporphyrin	Normal	Normal	Normal
Urine Uroporphyrin	Marked increase	Normal	Normal
Urine Coproporphyrin	Moderate increase	Normal	Normal
Feces Protoporphyrin	Normal	Moderate increase	Normal or slight increase
Feces Coproporphyrin	Slight increase	Normal	Normal
Additional Tests	Marked decrease in Uroporphyrinogen III synthase activity	Moderate decrease in Ferrochelatase activity	Moderate increase in ALA-synthase activity Moderate increase in FEP/ZPP

*Adapted from Rodak's Table 17.2, p. 274

6. Keohane, E. M., Otto, C.N., Walenga, J. M. (2016). Rodak's Hematology Clinical Principles and Applications. St. Louis., Elsevier, 6th Edition.