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Hereditary Pyropoikilocytosis: Clinical and Laboratory Analysis in Eight Infants and Young Children

Hereditary Pyropoikilocytosis: Clinical and Laboratory Analysis in Eight Infants and Young Children Abstract • Objective. —To describe the mode of presentation and natural history of hereditary pyropoikilocytosis to promote earlier diagnosis and improve treatment of this disorder. Design. —Retrospective case analysis. Setting. —Tertiary care pediatric medical center. Participants. —Eight children referred for examination. Interventions. —Treatment of symptomatic anemia and complications. Measurements/Main 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.(AJDC. 1993;147:93-95) References 1. Zarkowsky HS, Mohandas N, Speaker CB, Shohet SB. A congenital hemolytic anemia with thermal sensitivity of the erythrocyte membrane . Br J Haematol. 1975;29:537-545.Crossref 2. Coetzer T, Lawler J, Prchal JT, Palek J. Molecular determinants of clinical expression of hereditary elliptocytosis and pyropoikilocytosis . Blood . 1987;70:766-772. 3. Coetzer TL, Palek J. Partial spectrin deficiency in hereditary pyropoikilocytosis . Blood . 1986;67:919-924. 4. Palek J. Hereditary elliptocytosis, spherocytosis and related disorders: consequences of a deficiency or a mutation of membrane skeletal proteins . Blood Rev. 1987;1:147-168.Crossref 5. Dodge JT, Mitchell C, Hanahan DJ. The preparation and chemical characteristics of hemoglobin-free ghosts of human erythrocytes . Arch Biochem Biophys. 1963;100:119-125.Crossref 6. Lawler J, Liu SC, Palek J, Prchal J. A molecular defect of spectrin in a subset of patients with hereditary elliptocytosis: alterations in the α subunit domain involved in spectrin self-association . J Clin Invest. 1984; 73:1688-1695.Crossref 7. Floyd PB, Gallagher PG, Valentino LA, Davis M, Marchesi SL, Forget BG. Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin αI/74-kilodalton tryptic peptide . Blood . 1991;78:1364-1372. 8. Liu SC, Derick LH, Agre P, Palek J. Alteration of the erythrocyte membrane skeletal ultrastructure in hereditary spherocytosis, hereditary elliptocytosis and pyropoikilocytosis . Blood . 1990;76:198-205. 9. Peterson LC, Dampier C, Coetzer T, Lawler J, White J, Palek J. Clinical and laboratory study of two caucasian families with hereditary pyropoikilocytosis and hereditary elliptocytosis . Am J Clin Pathol. 1987;88:58-65. 10. Mallouh A, Sadi AR, Ahmad MS, Salamah M. Hereditary pyropoikilocytosis: report of two cases from Saudi Arabia . Am J Med Genet. 1984; 18:413-417.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Hereditary Pyropoikilocytosis: Clinical and Laboratory Analysis in Eight Infants and Young Children

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References (10)

Publisher
American Medical Association
Copyright
Copyright © 1993 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1993.02160250095029
Publisher site
See Article on Publisher Site

Abstract

Abstract • Objective. —To describe the mode of presentation and natural history of hereditary pyropoikilocytosis to promote earlier diagnosis and improve treatment of this disorder. Design. —Retrospective case analysis. Setting. —Tertiary care pediatric medical center. Participants. —Eight children referred for examination. Interventions. —Treatment of symptomatic anemia and complications. Measurements/Main 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.(AJDC. 1993;147:93-95) References 1. Zarkowsky HS, Mohandas N, Speaker CB, Shohet SB. A congenital hemolytic anemia with thermal sensitivity of the erythrocyte membrane . Br J Haematol. 1975;29:537-545.Crossref 2. Coetzer T, Lawler J, Prchal JT, Palek J. Molecular determinants of clinical expression of hereditary elliptocytosis and pyropoikilocytosis . Blood . 1987;70:766-772. 3. Coetzer TL, Palek J. Partial spectrin deficiency in hereditary pyropoikilocytosis . Blood . 1986;67:919-924. 4. Palek J. Hereditary elliptocytosis, spherocytosis and related disorders: consequences of a deficiency or a mutation of membrane skeletal proteins . Blood Rev. 1987;1:147-168.Crossref 5. Dodge JT, Mitchell C, Hanahan DJ. The preparation and chemical characteristics of hemoglobin-free ghosts of human erythrocytes . Arch Biochem Biophys. 1963;100:119-125.Crossref 6. Lawler J, Liu SC, Palek J, Prchal J. A molecular defect of spectrin in a subset of patients with hereditary elliptocytosis: alterations in the α subunit domain involved in spectrin self-association . J Clin Invest. 1984; 73:1688-1695.Crossref 7. Floyd PB, Gallagher PG, Valentino LA, Davis M, Marchesi SL, Forget BG. Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin αI/74-kilodalton tryptic peptide . Blood . 1991;78:1364-1372. 8. Liu SC, Derick LH, Agre P, Palek J. Alteration of the erythrocyte membrane skeletal ultrastructure in hereditary spherocytosis, hereditary elliptocytosis and pyropoikilocytosis . Blood . 1990;76:198-205. 9. Peterson LC, Dampier C, Coetzer T, Lawler J, White J, Palek J. Clinical and laboratory study of two caucasian families with hereditary pyropoikilocytosis and hereditary elliptocytosis . Am J Clin Pathol. 1987;88:58-65. 10. Mallouh A, Sadi AR, Ahmad MS, Salamah M. Hereditary pyropoikilocytosis: report of two cases from Saudi Arabia . Am J Med Genet. 1984; 18:413-417.Crossref

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Jan 1, 1993

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