Hemoglobin J-Auckland: a clinically silent low oxygen affinity variant presenting with persistent asymptomatic hypoxemia at high altitude
Background Inherited hemoglobin disorders are common in clinical practice. While qualitative (i.e. sickle cell disease) and quantitative (thalassemia) hemoglobinopathies are usually diagnosed clinically and confirmed through simple laboratory assessments, hemoglobin variants with altered oxygen affi...
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2024-12-01
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| Series: | Hematology |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/16078454.2024.2405751 |
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| author | Ali Alsuheel Asseri Ibrahim Tawhari Afaf Haif Qahtani Ibrahim A. Asiri Husain Alkhaldy |
| author_facet | Ali Alsuheel Asseri Ibrahim Tawhari Afaf Haif Qahtani Ibrahim A. Asiri Husain Alkhaldy |
| author_sort | Ali Alsuheel Asseri |
| collection | DOAJ |
| description | Background Inherited hemoglobin disorders are common in clinical practice. While qualitative (i.e. sickle cell disease) and quantitative (thalassemia) hemoglobinopathies are usually diagnosed clinically and confirmed through simple laboratory assessments, hemoglobin variants with altered oxygen affinity often go undetected due to their typically silent clinical presentation. Hemoglobin (Hb) J-Auckland, a low oxygen affinity hemoglobin variant first described in 1987 in Auckland, New Zealand, is one such silent disorder.Case presentation We report for the first time a clinically evident case of previously undiagnosed Hb J-Auckland in an 8-year-old girl who presented with unexplained hypoxemia at high altitude. Her oxygen level was corrected with supplemental oxygen and when assessed at low altitude. A brief discussion of the diagnostic approach and clinical implications is provided.Conclusion Standard hemoglobin analysis is essential for the evaluation of suspected altered affinity hemoglobinopathy, and genetic testing is often required for definitive diagnosis. Early recognition and diagnosis of these variants can prevent mismanagement and improve patient outcomes. |
| format | Article |
| id | doaj-art-bbe61b851c304898a3a88348dbfe0d0c |
| institution | Kabale University |
| issn | 1607-8454 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Hematology |
| spelling | doaj-art-bbe61b851c304898a3a88348dbfe0d0c2024-12-12T15:08:53ZengTaylor & Francis GroupHematology1607-84542024-12-0129110.1080/16078454.2024.2405751Hemoglobin J-Auckland: a clinically silent low oxygen affinity variant presenting with persistent asymptomatic hypoxemia at high altitudeAli Alsuheel Asseri0Ibrahim Tawhari1Afaf Haif Qahtani2Ibrahim A. Asiri3Husain Alkhaldy4Department of Child Health, King Khalid University, Abha, Saudi ArabiaDepartments of Internal Medicine, King Khalid University, Abha, Saudi ArabiaCollege of Medicine, King Khalid University, Abha, Saudi ArabiaDepartments of Pediatrics, King Khalid University Medical City, Abha, Saudi ArabiaDepartments of Internal Medicine, King Khalid University, Abha, Saudi ArabiaBackground Inherited hemoglobin disorders are common in clinical practice. While qualitative (i.e. sickle cell disease) and quantitative (thalassemia) hemoglobinopathies are usually diagnosed clinically and confirmed through simple laboratory assessments, hemoglobin variants with altered oxygen affinity often go undetected due to their typically silent clinical presentation. Hemoglobin (Hb) J-Auckland, a low oxygen affinity hemoglobin variant first described in 1987 in Auckland, New Zealand, is one such silent disorder.Case presentation We report for the first time a clinically evident case of previously undiagnosed Hb J-Auckland in an 8-year-old girl who presented with unexplained hypoxemia at high altitude. Her oxygen level was corrected with supplemental oxygen and when assessed at low altitude. A brief discussion of the diagnostic approach and clinical implications is provided.Conclusion Standard hemoglobin analysis is essential for the evaluation of suspected altered affinity hemoglobinopathy, and genetic testing is often required for definitive diagnosis. Early recognition and diagnosis of these variants can prevent mismanagement and improve patient outcomes.https://www.tandfonline.com/doi/10.1080/16078454.2024.2405751Low-affinityaltitudehypoxemiahemoglobinopathySaudi Arabiahemoglobin J-Auckland |
| spellingShingle | Ali Alsuheel Asseri Ibrahim Tawhari Afaf Haif Qahtani Ibrahim A. Asiri Husain Alkhaldy Hemoglobin J-Auckland: a clinically silent low oxygen affinity variant presenting with persistent asymptomatic hypoxemia at high altitude Hematology Low-affinity altitude hypoxemia hemoglobinopathy Saudi Arabia hemoglobin J-Auckland |
| title | Hemoglobin J-Auckland: a clinically silent low oxygen affinity variant presenting with persistent asymptomatic hypoxemia at high altitude |
| title_full | Hemoglobin J-Auckland: a clinically silent low oxygen affinity variant presenting with persistent asymptomatic hypoxemia at high altitude |
| title_fullStr | Hemoglobin J-Auckland: a clinically silent low oxygen affinity variant presenting with persistent asymptomatic hypoxemia at high altitude |
| title_full_unstemmed | Hemoglobin J-Auckland: a clinically silent low oxygen affinity variant presenting with persistent asymptomatic hypoxemia at high altitude |
| title_short | Hemoglobin J-Auckland: a clinically silent low oxygen affinity variant presenting with persistent asymptomatic hypoxemia at high altitude |
| title_sort | hemoglobin j auckland a clinically silent low oxygen affinity variant presenting with persistent asymptomatic hypoxemia at high altitude |
| topic | Low-affinity altitude hypoxemia hemoglobinopathy Saudi Arabia hemoglobin J-Auckland |
| url | https://www.tandfonline.com/doi/10.1080/16078454.2024.2405751 |
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