Rare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosis
Abstract Hemoglobin (Hb) Vancleave (NM_000518.5:c.431 A > T; dbSNP: rs33918338) is an extremely rare structural hemoglobin variant worldwide, and studies are limited. This report describes the case of a 16-year-old male patient who presented with secondary erythrocytosis. The diagnosis of Hb Vanc...
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2024-04-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00275-y |
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| author | Nur Aisyah Aziz Nurul Hidayah Musa Melina Mathews Komalah Thevii Rajenderan Faidatul Syazlin Abdul Hamid Syahzuwan Hassan Syahira Lazira Omar Wan Nurul Afiqha Binti Wan Yusoff Melanie Ling Binti Mohd Din Nurul Amira Binti Jamaludin Wan Rohani Wan Taib Ezalia Esa Norafiza Mohd Yasin |
| author_facet | Nur Aisyah Aziz Nurul Hidayah Musa Melina Mathews Komalah Thevii Rajenderan Faidatul Syazlin Abdul Hamid Syahzuwan Hassan Syahira Lazira Omar Wan Nurul Afiqha Binti Wan Yusoff Melanie Ling Binti Mohd Din Nurul Amira Binti Jamaludin Wan Rohani Wan Taib Ezalia Esa Norafiza Mohd Yasin |
| author_sort | Nur Aisyah Aziz |
| collection | DOAJ |
| description | Abstract Hemoglobin (Hb) Vancleave (NM_000518.5:c.431 A > T; dbSNP: rs33918338) is an extremely rare structural hemoglobin variant worldwide, and studies are limited. This report describes the case of a 16-year-old male patient who presented with secondary erythrocytosis. The diagnosis of Hb Vancleave, in combination with codon 41/42 (-TTCT) (NM_000518.5:c.126_129del; dbSNP: rs80356821), was confirmed by direct sequencing. This report highlights the importance of sequencing in the differential diagnosis of beta-thalassemia syndrome in Malaysia. |
| format | Article |
| id | doaj-art-3c36a899bc754a71bd972baef08a6509 |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-04-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-3c36a899bc754a71bd972baef08a65092025-01-19T12:15:54ZengNature Publishing GroupHuman Genome Variation2054-345X2024-04-011111410.1038/s41439-024-00275-yRare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosisNur Aisyah Aziz0Nurul Hidayah Musa1Melina Mathews2Komalah Thevii Rajenderan3Faidatul Syazlin Abdul Hamid4Syahzuwan Hassan5Syahira Lazira Omar6Wan Nurul Afiqha Binti Wan Yusoff7Melanie Ling Binti Mohd Din8Nurul Amira Binti Jamaludin9Wan Rohani Wan Taib10Ezalia Esa11Norafiza Mohd Yasin12Hematology Unit, Cancer Research Center (CaRC), Institute for Medical Research (IMR), National Institute of Health (NIH), Ministry of Health (MOH), Setia AlamHematology Unit, Cancer Research Center (CaRC), Institute for Medical Research (IMR), National Institute of Health (NIH), Ministry of Health (MOH), Setia AlamSimee Health ClinicDepartment of Pathology, Hospital Raja Permaisuri BainunHematology Unit, Cancer Research Center (CaRC), Institute for Medical Research (IMR), National Institute of Health (NIH), Ministry of Health (MOH), Setia AlamHematology Unit, Cancer Research Center (CaRC), Institute for Medical Research (IMR), National Institute of Health (NIH), Ministry of Health (MOH), Setia AlamHematology Unit, Cancer Research Center (CaRC), Institute for Medical Research (IMR), National Institute of Health (NIH), Ministry of Health (MOH), Setia AlamHematology Unit, Cancer Research Center (CaRC), Institute for Medical Research (IMR), National Institute of Health (NIH), Ministry of Health (MOH), Setia AlamHematology Unit, Cancer Research Center (CaRC), Institute for Medical Research (IMR), National Institute of Health (NIH), Ministry of Health (MOH), Setia AlamHematology Unit, Cancer Research Center (CaRC), Institute for Medical Research (IMR), National Institute of Health (NIH), Ministry of Health (MOH), Setia AlamFaculty of Health Science, University Sultan Zainal AbidinHematology Unit, Cancer Research Center (CaRC), Institute for Medical Research (IMR), National Institute of Health (NIH), Ministry of Health (MOH), Setia AlamHematology Unit, Cancer Research Center (CaRC), Institute for Medical Research (IMR), National Institute of Health (NIH), Ministry of Health (MOH), Setia AlamAbstract Hemoglobin (Hb) Vancleave (NM_000518.5:c.431 A > T; dbSNP: rs33918338) is an extremely rare structural hemoglobin variant worldwide, and studies are limited. This report describes the case of a 16-year-old male patient who presented with secondary erythrocytosis. The diagnosis of Hb Vancleave, in combination with codon 41/42 (-TTCT) (NM_000518.5:c.126_129del; dbSNP: rs80356821), was confirmed by direct sequencing. This report highlights the importance of sequencing in the differential diagnosis of beta-thalassemia syndrome in Malaysia.https://doi.org/10.1038/s41439-024-00275-y |
| spellingShingle | Nur Aisyah Aziz Nurul Hidayah Musa Melina Mathews Komalah Thevii Rajenderan Faidatul Syazlin Abdul Hamid Syahzuwan Hassan Syahira Lazira Omar Wan Nurul Afiqha Binti Wan Yusoff Melanie Ling Binti Mohd Din Nurul Amira Binti Jamaludin Wan Rohani Wan Taib Ezalia Esa Norafiza Mohd Yasin Rare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosis Human Genome Variation |
| title | Rare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosis |
| title_full | Rare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosis |
| title_fullStr | Rare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosis |
| title_full_unstemmed | Rare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosis |
| title_short | Rare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosis |
| title_sort | rare coinheritance of hemoglobin vancleave with severe beta thalassemia mutation in a patient with secondary erythrocytosis |
| url | https://doi.org/10.1038/s41439-024-00275-y |
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