Hereditary pyropoikilocytosis. Clinical and laboratory analysis in eight infants and young children.
OBJECTIVE
To describe the mode of presentation and natural history of hereditary pyropoikilocytosis to promote earlier diagnosis and improve treatment of this disorder.


METHODS
Retrospective case analysis.


METHODS
Tertiary care pediatric medical center.


METHODS
Eight children referred for examination.


METHODS
Treatment of symptomatic anemia and complications.


RESULTS
Hereditary pyropoikilocytosis was responsible for a very characteristic perinatal course in our patient cohort. All patients had hyperbilirubinemia requiring either exchange transfusions or phototherapy. Peripheral blood smears at birth revealed nucleated red blood cells, marked poikilocytosis, microcytosis, and reticulocytosis. All other pertinent laboratory studies (eg, immune hemolysis, sepsis, hereditary spherocytosis, etc) were noncontributory. Specific red blood cell membrane analysis clearly identified these patients as having hereditary pyropoikilocytosis. Follow-up evaluation of these patients (in one instance spanning 12 years) determined that this disorder is associated with a clinically apparent anemia but an excellent prognosis.


CONCLUSIONS
Red blood cell membrane analysis should be performed in neonates with a hemolytic anemia requiring therapy in which no identifiable cause can be ascertained with a conventional diagnostic examination.
DePalma
L
L
Department of Laboratory Medicine, Children's National Medical Center, Washington, DC.
Luban
N L
NL
D000745:Anemia, Hemolytic, Congenital / Q000097:blood* / Q000453:epidemiology / Q000235:genetics; D044383:Black People; D003937:Diagnosis, Differential; D004219:District of Columbia / Q000453:epidemiology; D004909:Erythrocyte Indices; D004913:Erythrocytes, Abnormal; D005260:Female; D005500:Follow-Up Studies; D006400:Hematocrit; D006579:Heterozygote; D006776:Hospitals, Pediatric; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011379:Prognosis; D012189:Retrospective Studies; D013049:Spectrin / Q000032:analysis / Q000172:deficiency*; D001741:Black or African American
D013049:Spectrin