Rare cases of haemoglobin variant presented with isolated erythrocytosis
Haemoglobinopathies presenting with erythrocytosis is relatively rare. The clinicians might mistakenly diagnose such patients with other causes of erythrocytosis such as myeloproliferative neoplasm, etc instead of haemoglobinopathies. Here, we described two cases of haemoglobin variant, namely Haemo...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Faculty of Medicine and Health Sciences, Universiti Putra Malaysia
2020
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| Online Access: | http://psasir.upm.edu.my/id/eprint/90197/ http://psasir.upm.edu.my/id/eprint/90197/1/16.pdf |
| _version_ | 1848861001850552320 |
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| author | Nahanthiran, Subithira N. M., Hafidzah N., Syirah E., Ezalia Faridah M N, Sabariah |
| author_facet | Nahanthiran, Subithira N. M., Hafidzah N., Syirah E., Ezalia Faridah M N, Sabariah |
| author_sort | Nahanthiran, Subithira |
| building | UPM Institutional Repository |
| collection | Online Access |
| description | Haemoglobinopathies presenting with erythrocytosis is relatively rare. The clinicians might mistakenly diagnose such patients with other causes of erythrocytosis such as myeloproliferative neoplasm, etc instead of haemoglobinopathies. Here, we described two cases of haemoglobin variant, namely Haemoglobin Johnstown (Hb Johnstown) and Haemoglobin Bethesda (Hb Besthesda) that were detected following various futile investigations for persistent erythrocytosis. For both cases, the two main screening methods used were capillary electrophoresis (CE) and high performance liquid chromatography (HPLC). Approximately 30% of the high affinity haemoglobin (Hb) are not detected by electrophoresis method, however, in some cases, a variant Hb peak can be seen in chromatography method. Thus, a high index of suspicion of such diagnosis is utmost important as to not to miss the definitive diagnostic test by DNA analysis. |
| first_indexed | 2025-11-15T12:54:12Z |
| format | Article |
| id | upm-90197 |
| institution | Universiti Putra Malaysia |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-15T12:54:12Z |
| publishDate | 2020 |
| publisher | Faculty of Medicine and Health Sciences, Universiti Putra Malaysia |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | upm-901972021-09-09T11:28:00Z http://psasir.upm.edu.my/id/eprint/90197/ Rare cases of haemoglobin variant presented with isolated erythrocytosis Nahanthiran, Subithira N. M., Hafidzah N., Syirah E., Ezalia Faridah M N, Sabariah Haemoglobinopathies presenting with erythrocytosis is relatively rare. The clinicians might mistakenly diagnose such patients with other causes of erythrocytosis such as myeloproliferative neoplasm, etc instead of haemoglobinopathies. Here, we described two cases of haemoglobin variant, namely Haemoglobin Johnstown (Hb Johnstown) and Haemoglobin Bethesda (Hb Besthesda) that were detected following various futile investigations for persistent erythrocytosis. For both cases, the two main screening methods used were capillary electrophoresis (CE) and high performance liquid chromatography (HPLC). Approximately 30% of the high affinity haemoglobin (Hb) are not detected by electrophoresis method, however, in some cases, a variant Hb peak can be seen in chromatography method. Thus, a high index of suspicion of such diagnosis is utmost important as to not to miss the definitive diagnostic test by DNA analysis. Faculty of Medicine and Health Sciences, Universiti Putra Malaysia 2020-11 Article PeerReviewed text en http://psasir.upm.edu.my/id/eprint/90197/1/16.pdf Nahanthiran, Subithira and N. M., Hafidzah and N., Syirah and E., Ezalia and Faridah and M N, Sabariah (2020) Rare cases of haemoglobin variant presented with isolated erythrocytosis. Malaysian Journal of Medicine and Health Sciences, 16 (suppl. 9). pp. 114-116. ISSN 1675-8544; ESSN: 2636-9346 https://medic.upm.edu.my/upload/dokumen/2020110611220216_2020_0111.pdf |
| spellingShingle | Nahanthiran, Subithira N. M., Hafidzah N., Syirah E., Ezalia Faridah M N, Sabariah Rare cases of haemoglobin variant presented with isolated erythrocytosis |
| title | Rare cases of haemoglobin variant presented with isolated erythrocytosis |
| title_full | Rare cases of haemoglobin variant presented with isolated erythrocytosis |
| title_fullStr | Rare cases of haemoglobin variant presented with isolated erythrocytosis |
| title_full_unstemmed | Rare cases of haemoglobin variant presented with isolated erythrocytosis |
| title_short | Rare cases of haemoglobin variant presented with isolated erythrocytosis |
| title_sort | rare cases of haemoglobin variant presented with isolated erythrocytosis |
| url | http://psasir.upm.edu.my/id/eprint/90197/ http://psasir.upm.edu.my/id/eprint/90197/ http://psasir.upm.edu.my/id/eprint/90197/1/16.pdf |