Shahira ElShafei
Fayoum University
Egypt
Title: Family study of a case of hereditary pyropoikilocytosis
Biography
Biography: Shahira ElShafei
Abstract
Hereditary pyropoikilocytosis (HPP) is a severe, rare, heriditery (autosomal recessive) hemolytic anemia, characterized by morphological findings of peripheral blood film in the form of spherocytosis, aniso-poikilocytosis, red cell fragments and a moderate degree of elliptocytosis) and decreased thermal threshold for heat-induced red cell hemolysis . Considerable evidence indicates abnormal assembly of red cell membrane proteins that result from one or more inherited defects of red cell membrane protein of the red cell skeleton is abnormal in such patients as a result of one or more inherited defects in the spectrin molecule.
We report and a document a case of pyropoikilocytosis with family study that suggest hereditary elliptocytosis in the father and ovalocytosis in the mother. We present the morphological findings and thermal studies of the patient and family members.