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Hereditary spherocytosis: Consequences of delayed diagnosis

OBJECTIVE: To determine whether patients with undiagnosed hereditary spherocytosis hospitalized for transfusions might have avoided hospitalization via earlier diagnosis. STUDY DESIGN: Charts of all (N = 30) patients with hereditary spherocytosis seen in pediatric hematology at West Virginia Univers...

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Detalles Bibliográficos
Autores principales: Steward, Sarah C, Chauvenet, Allen R, O’Suoji, Chibuzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4607200/
https://www.ncbi.nlm.nih.gov/pubmed/26770738
http://dx.doi.org/10.1177/2050312114547093
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author Steward, Sarah C
Chauvenet, Allen R
O’Suoji, Chibuzo
author_facet Steward, Sarah C
Chauvenet, Allen R
O’Suoji, Chibuzo
author_sort Steward, Sarah C
collection PubMed
description OBJECTIVE: To determine whether patients with undiagnosed hereditary spherocytosis hospitalized for transfusions might have avoided hospitalization via earlier diagnosis. STUDY DESIGN: Charts of all (N = 30) patients with hereditary spherocytosis seen in pediatric hematology at West Virginia University-Charleston were reviewed. Family and transfusion history and presence of neonatal jaundice were recorded. Complete blood count and reticulocyte values during infancy were available for 20 of 30 patients, while baseline steady-state values were available for all 30. RESULTS: Transfusions were given to 22 patients; 12 of 14 with an aplastic crisis were undiagnosed. In 10 of 12, the severity of anemia led to hospitalization (3 to intensive care). All 10 had prior mean corpuscular hemoglobin concentration and/or red cell distribution width elevations and a history of neonatal jaundice; 7 of 10 had a positive family history. CONCLUSIONS: Undiagnosed hereditary spherocytosis may lead to inpatient transfusions for severe anemia. Earlier detection of hereditary spherocytosis is easily achievable and may reduce hospitalizations via closer monitoring.
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spelling pubmed-46072002016-01-14 Hereditary spherocytosis: Consequences of delayed diagnosis Steward, Sarah C Chauvenet, Allen R O’Suoji, Chibuzo SAGE Open Med Original Article OBJECTIVE: To determine whether patients with undiagnosed hereditary spherocytosis hospitalized for transfusions might have avoided hospitalization via earlier diagnosis. STUDY DESIGN: Charts of all (N = 30) patients with hereditary spherocytosis seen in pediatric hematology at West Virginia University-Charleston were reviewed. Family and transfusion history and presence of neonatal jaundice were recorded. Complete blood count and reticulocyte values during infancy were available for 20 of 30 patients, while baseline steady-state values were available for all 30. RESULTS: Transfusions were given to 22 patients; 12 of 14 with an aplastic crisis were undiagnosed. In 10 of 12, the severity of anemia led to hospitalization (3 to intensive care). All 10 had prior mean corpuscular hemoglobin concentration and/or red cell distribution width elevations and a history of neonatal jaundice; 7 of 10 had a positive family history. CONCLUSIONS: Undiagnosed hereditary spherocytosis may lead to inpatient transfusions for severe anemia. Earlier detection of hereditary spherocytosis is easily achievable and may reduce hospitalizations via closer monitoring. SAGE Publications 2014-08-16 /pmc/articles/PMC4607200/ /pubmed/26770738 http://dx.doi.org/10.1177/2050312114547093 Text en © The Author(s) 2014 http://creativecommons.org/licenses/by-nc/3.0/ This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 3.0 License (http://www.creativecommons.org/licenses/by-nc/3.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page (http://www.uk.sagepub.com/aboutus/openaccess.htm).
spellingShingle Original Article
Steward, Sarah C
Chauvenet, Allen R
O’Suoji, Chibuzo
Hereditary spherocytosis: Consequences of delayed diagnosis
title Hereditary spherocytosis: Consequences of delayed diagnosis
title_full Hereditary spherocytosis: Consequences of delayed diagnosis
title_fullStr Hereditary spherocytosis: Consequences of delayed diagnosis
title_full_unstemmed Hereditary spherocytosis: Consequences of delayed diagnosis
title_short Hereditary spherocytosis: Consequences of delayed diagnosis
title_sort hereditary spherocytosis: consequences of delayed diagnosis
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4607200/
https://www.ncbi.nlm.nih.gov/pubmed/26770738
http://dx.doi.org/10.1177/2050312114547093
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