Rare Cases of Haemoglobin Variant Presented with Isolated Erythrocytosis

Subithira N; Hafidzah NM; Syirah N; Ezalia E; Faridah; Sabariah MN

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Rare Cases of Haemoglobin Variant Presented with Isolated Erythrocytosis

Author: Subithira N ^{1
,

2} ; Hafidzah NM ¹ ; Syirah N ¹ ; Ezalia E ³ ; Faridah ^{1
,

2} ; Sabariah MN ²
Author Information

1. Haematology Unit, Department of Pathology, Hospital Tuanku Jaafar Seremban, Jalan Rasah, Bukit Rasah, 70300, Seremban, Negeri Sembilan&
2. Department of Pathology, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, 43400 UPM Serdang, Selangor
3. Institute for Medical Research, Jalan Pahang, 50588 Kuala Lumpur, Malaysia
Publication Type:Case Reports
Keywords: Erythrocytosis, Haemoglobin Johnstown, Haemoglobin Bethesda
From:Malaysian Journal of Medicine and Health Sciences 2020;16(Supp 9, November):114-116
CountryMalaysia
Language:English
Abstract: 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.
Full text:11.2020my0892.pdf