ATYPICAL RED CELL INCLUSIONS IN A PATIENT WITH CONGENITAL ERYTHROPOIETIC PORPHYRIA

A Merino, M Rozman*, C Herrero**, J To-Figueras, A Ordinas

Servicio de Hemoterapia-Hemostasia. Core Lab. *Unidad de Hematopatología. CDB.**ICMD. Hospital Clínic. IDIBAPS. Universidad de Barcelona

We show the morphological finding of some atypical inclusions in mature red cells and their precursors in a 28 years-old patient with congenital erythropoietic porphyria.

We evaluated the red cell morphology in a 28 years-old women with cutaneous photosensitivity that began in early infancy and manifested by increased friability and blistering of the epidermis on the hands, face and other sun-exposed areas, with secondary loss of digits. She also showed hyperpigmentation, hypertrichosis, severe hemolytic anemia that required splenectomy and erythrodontia. Leukocyte and platelet counts were normal. Nevertheless the red cell count was low (2,74 x 1012/L) with reticulocytosis, increased nucleated red cells, absence of haptoglobin and increased ferritin values (647 ng/mL).  Chromatography (h.p.l.c.) analyses showed that erythrocytes contained significant amounts of uroporphyrin I (7,4 μmol/L red cells) and coproporphyrin I (11,2 μmol/L red cells). The patient showed  a characteristic CEP profile in urine with high concentrations of uroporphyrin I  (5510 nmol/mmolcreatinine) and coproporphyrin I (1278 nmol/mmol creatinine).

In the morphological red cell analysis (May-Grünwald-Giemsa staining) we found anisocitosis, poikilocytosis, spherocytosis, polychromasia, basofilic stippling and Howell-Jolly bodies. We also found in the red cells many purple-violet, slender, straight or slightly curved needle-like inclusions, mostly aligned in radial orientation. With transmission electron microscopy we found a) erythrocytic sideroacrestic phenomenon and b) deposits or needle-like inclusions in the red cells.

Similar atypical inclusions that we describe here were previously found in the hepatocytes in patients with erythropoietic porphyria. Hepatic deposits correspond to pigment crystals and are composed of protoporphirin. This phenomenon in the erythrocytes is exceptional and probably in the present case may be due to the lack of the pitting function of the spleen.