Spherocytosis in Newborn Secondary to Novel Heterozygous Mutation in Gene: Case Report
This case report describes a novel mutation of the SPTB gene as a potential pathogenic cause of spherocytosis. A 3-week-old male presented with clinical and laboratory signs consistent with hemolytic spherocytosis, including jaundice, hyperbilirubinemia, anemia, reticulocytosis, negative Coombs test...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2023-06-01
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| Series: | Journal of Investigative Medicine High Impact Case Reports |
| Online Access: | https://doi.org/10.1177/23247096231180552 |
| _version_ | 1797805703469989888 |
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| author | Daphna Varadi MD Benjamin Caplan MD Maria Scarano PhD Rafat Ahmed MD |
| author_facet | Daphna Varadi MD Benjamin Caplan MD Maria Scarano PhD Rafat Ahmed MD |
| author_sort | Daphna Varadi MD |
| collection | DOAJ |
| description | This case report describes a novel mutation of the SPTB gene as a potential pathogenic cause of spherocytosis. A 3-week-old male presented with clinical and laboratory signs consistent with hemolytic spherocytosis, including jaundice, hyperbilirubinemia, anemia, reticulocytosis, negative Coombs test, no ABO or Rh incompatibility, and a peripheral blood smear notable for numerous spherocytes. His laboratory work demonstrated persistent anemia despite daily folate prompting next-generation sequencing which revealed a novel mutation in the SPTB gene resulting in a nonfunctioning protein product. Correlation of the genetic finding with clinical presentation may help guide management for this and future patients. |
| first_indexed | 2024-03-13T05:56:05Z |
| format | Article |
| id | doaj.art-8cba844072d845fd9ed99625312f29e6 |
| institution | Directory Open Access Journal |
| issn | 2324-7096 |
| language | English |
| last_indexed | 2024-03-13T05:56:05Z |
| publishDate | 2023-06-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | Journal of Investigative Medicine High Impact Case Reports |
| spelling | doaj.art-8cba844072d845fd9ed99625312f29e62023-06-13T05:04:03ZengSAGE PublishingJournal of Investigative Medicine High Impact Case Reports2324-70962023-06-011110.1177/23247096231180552Spherocytosis in Newborn Secondary to Novel Heterozygous Mutation in Gene: Case ReportDaphna Varadi MD0Benjamin Caplan MD1Maria Scarano PhD2Rafat Ahmed MD3Cooper Medical School of Rowan University, Camden, NJ, USACooper Medical School of Rowan University, Camden, NJ, USACooper University Health Care, Camden, NJ, USACooper University Health Care, Camden, NJ, USAThis case report describes a novel mutation of the SPTB gene as a potential pathogenic cause of spherocytosis. A 3-week-old male presented with clinical and laboratory signs consistent with hemolytic spherocytosis, including jaundice, hyperbilirubinemia, anemia, reticulocytosis, negative Coombs test, no ABO or Rh incompatibility, and a peripheral blood smear notable for numerous spherocytes. His laboratory work demonstrated persistent anemia despite daily folate prompting next-generation sequencing which revealed a novel mutation in the SPTB gene resulting in a nonfunctioning protein product. Correlation of the genetic finding with clinical presentation may help guide management for this and future patients.https://doi.org/10.1177/23247096231180552 |
| spellingShingle | Daphna Varadi MD Benjamin Caplan MD Maria Scarano PhD Rafat Ahmed MD Spherocytosis in Newborn Secondary to Novel Heterozygous Mutation in Gene: Case Report Journal of Investigative Medicine High Impact Case Reports |
| title | Spherocytosis in Newborn Secondary to Novel Heterozygous Mutation in Gene: Case Report |
| title_full | Spherocytosis in Newborn Secondary to Novel Heterozygous Mutation in Gene: Case Report |
| title_fullStr | Spherocytosis in Newborn Secondary to Novel Heterozygous Mutation in Gene: Case Report |
| title_full_unstemmed | Spherocytosis in Newborn Secondary to Novel Heterozygous Mutation in Gene: Case Report |
| title_short | Spherocytosis in Newborn Secondary to Novel Heterozygous Mutation in Gene: Case Report |
| title_sort | spherocytosis in newborn secondary to novel heterozygous mutation in gene case report |
| url | https://doi.org/10.1177/23247096231180552 |
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