Hereditary Pyropoikilocytosis: A Rare but Potentially Severe Form of Congenital Hemolytic Anemia

Abstract

Hereditary pyropoikilocytosis is an inherited red cell membrane disorder with characteristic morphology: striking anisopoikilocytosis with red cell fragmentation and microspherocytes. Clinical and laboratory physicians must be aware of the potential impact of this disorder on accuracy of complete blood count results reported by automated hematology instruments. Recognition of the morphologic and laboratory findings are important for recognizing this potentially severe anemia.

Variations in Both α-Spectrin <b><i>(SPTA1)</i></b> and β-Spectrin (<b><i>SPTB</i></b>) in a Neonate with Prolonged Jaundice in a Family where Nine Individuals Had Hereditary Elliptocytosis

“…However in the present case, as in other reports of pyropoikilocytosis, the MCV is low and the MCHC high even in the neonatal period, much like in hereditary spherocytosis [15]. In addition to these abnormalities, the erythrocyte morphological abnormalities in our patient were more consistent with pyropoikilocytosis than with HE [3,4,7,8,9,15,16,17,18]. …”

“…Hereditary pyropoikilocytosis can present as neonatal jaundice with erythrocyte morphological abnormalities including schistocytes, microcytes, spherocytes, and poikilocytes [1,3,7,8,9]. Affected individuals typically have one parent with HE and the other parent with a molecular defect leading to asymptomatic spectrin deficiency; thus, hereditary pyropoikilocytosis is genetically similar to a compound heterozygous autosomal recessive condition.…”

Case Report: α-Spectrin Mutation Associated with αLELY Polymorphism Responsible for Hereditary Pyropoikilocytosis

“…This leads to a disruption of the horizontal junctions of the cytoskeleton of the red blood cell membrane, with loss of elasticity and fragmentation. HPP is characterised by severe hemolytic anemia with microspherocytes, poikilocytes, and an unusual thermal sensitivity of red cells because of membrane instability [ 1 , 2 ].…”

“…In contrast, the αLELY component in cis to the alpha spectrin mutation counteracts the similar component in trans , and, therefore, the clinical presentation is very different. However, the clinical phenotype in the presence of the homozygous αLELY component has not been reported [ 2 , 4 , 5 , 6 , 7 ].…”