Breaking Free from Your Fetal Chains: A Case-Based Review of the Literature on Gamma Chain Variant Hemoglobinopathies
Methemoglobinemia is a dyshemoglobinemia characterized by cyanosis and reduced oxygen saturation with increased methemoglobin values. The etiology may be congenital or acquired, with the latter being more common. We report a case of a full-term neonate who presented with transient cyanosis and methe...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Korean Society of Neonatology
2023-02-01
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| Series: | Neonatal Medicine |
| Subjects: | |
| Online Access: | http://www.neo-med.org/upload/pdf/nm-2023-30-1-14.pdf |
| _version_ | 1797869552370974720 |
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| author | Pearl Mary Varughese Sajan Thomas Sheela Nampoothiri Perraju Bendapudi |
| author_facet | Pearl Mary Varughese Sajan Thomas Sheela Nampoothiri Perraju Bendapudi |
| author_sort | Pearl Mary Varughese |
| collection | DOAJ |
| description | Methemoglobinemia is a dyshemoglobinemia characterized by cyanosis and reduced oxygen saturation with increased methemoglobin values. The etiology may be congenital or acquired, with the latter being more common. We report a case of a full-term neonate who presented with transient cyanosis and methemoglobinemia caused by a mutation in the gamma chain of fetal hemoglobin. |
| first_indexed | 2024-04-10T00:13:18Z |
| format | Article |
| id | doaj.art-768ee52dabd74f6a983533db716f7639 |
| institution | Directory Open Access Journal |
| issn | 2287-9412 2287-9803 |
| language | English |
| last_indexed | 2024-04-10T00:13:18Z |
| publishDate | 2023-02-01 |
| publisher | Korean Society of Neonatology |
| record_format | Article |
| series | Neonatal Medicine |
| spelling | doaj.art-768ee52dabd74f6a983533db716f76392023-03-16T07:08:52ZengKorean Society of NeonatologyNeonatal Medicine2287-94122287-98032023-02-01301141910.5385/nm.2023.30.1.141075Breaking Free from Your Fetal Chains: A Case-Based Review of the Literature on Gamma Chain Variant HemoglobinopathiesPearl Mary Varughese0Sajan Thomas1Sheela Nampoothiri2Perraju Bendapudi3 Department of Neonatology, Amrita Institute of Medical Sciences, Kochi, India Caritas Hospital and Institute of Health Sciences, Thellakom, India Department of Clinical Genetics, Amrita Institute of Medical Sciences, Kochi, India Department of Neonatology, Amrita Institute of Medical Sciences, Kochi, IndiaMethemoglobinemia is a dyshemoglobinemia characterized by cyanosis and reduced oxygen saturation with increased methemoglobin values. The etiology may be congenital or acquired, with the latter being more common. We report a case of a full-term neonate who presented with transient cyanosis and methemoglobinemia caused by a mutation in the gamma chain of fetal hemoglobin.http://www.neo-med.org/upload/pdf/nm-2023-30-1-14.pdfcyanosismethemoglobinfetal hemoglobin |
| spellingShingle | Pearl Mary Varughese Sajan Thomas Sheela Nampoothiri Perraju Bendapudi Breaking Free from Your Fetal Chains: A Case-Based Review of the Literature on Gamma Chain Variant Hemoglobinopathies Neonatal Medicine cyanosis methemoglobin fetal hemoglobin |
| title | Breaking Free from Your Fetal Chains: A Case-Based Review of the Literature on Gamma Chain Variant Hemoglobinopathies |
| title_full | Breaking Free from Your Fetal Chains: A Case-Based Review of the Literature on Gamma Chain Variant Hemoglobinopathies |
| title_fullStr | Breaking Free from Your Fetal Chains: A Case-Based Review of the Literature on Gamma Chain Variant Hemoglobinopathies |
| title_full_unstemmed | Breaking Free from Your Fetal Chains: A Case-Based Review of the Literature on Gamma Chain Variant Hemoglobinopathies |
| title_short | Breaking Free from Your Fetal Chains: A Case-Based Review of the Literature on Gamma Chain Variant Hemoglobinopathies |
| title_sort | breaking free from your fetal chains a case based review of the literature on gamma chain variant hemoglobinopathies |
| topic | cyanosis methemoglobin fetal hemoglobin |
| url | http://www.neo-med.org/upload/pdf/nm-2023-30-1-14.pdf |
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