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postgraduate thesis: An investigation into the effects of alpha thalassaemia on haemoglobin E level by high performance liquid chromatography in heterogeneous haemoglobin E carrier in Hong Kong
Title | An investigation into the effects of alpha thalassaemia on haemoglobin E level by high performance liquid chromatography in heterogeneous haemoglobin E carrier in Hong Kong |
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Authors | |
Issue Date | 2017 |
Publisher | The University of Hong Kong (Pokfulam, Hong Kong) |
Citation | Lee, C. [李晴峰]. (2017). An investigation into the effects of alpha thalassaemia on haemoglobin E level by high performance liquid chromatography in heterogeneous haemoglobin E carrier in Hong Kong. (Thesis). University of Hong Kong, Pokfulam, Hong Kong SAR. |
Abstract | BACKGROUND:
Thalassaemia is an inherited blood disorder characterised by reduced α- and β-globin chain production and imbalance due to the defects of globin alleles. It has a high prevalence among the Chinese population in the Southeast Asia. The severity of subclasses, α- and β-thalassaemia, depends on the number of affected globin alleles and can be caused by deletional and/or non-deletional mutation(s). Haemoglobin E (HbE) is mutated haemoglobin with a single point mutation in β-globin chain, which can be detected as variant haemoglobin in high performance liquid chromatography (HPLC) and densitometry. In rare patients with concomitant heterogeneous HbE and α-thalassaemia, there is interaction between HbE and α-thalassaemia leading to the changes in the pattern in HPLC and densitometry.
OBJECTIVES:
The aim is to investigate the effects of α-thalassaemia on HbE in heterogeneous HbE carrier in Hong Kong and/or the Chinese population by studying HbE level by HPLC and densitometry in subjects with HbE with concomitant α-thalassaemia and comparing that with a typical HbE without thalassaemia.
DESIGN:
Known samples, n = 58, that recently diagnosed with heterogeneous HbE by elevated HbE level up to ~30% in HPLC were selected for further phenotypic and genotypic analysis, including complete blood count, HbH inclusion bodies screening, haemoglobin electrophoresis for densitometry, α-globin multiplex gap-polymerase chain reaction (PCR) and α-amplification refractory mutation system-PCR, for the determination of the presence of HbE with concomitant α-thalassaemia. Known samples, n = 126, that clinically diagnosed with heterogeneous HbE by HPLC were retrospectively collected from database for selecting patients of interest with HbE with concomitant α-thalassaemia. (n = 184)
RESULTS:
27 out of 184 (14.67%) known heterogeneous HbE patients were suggested to be and/or indicated with HbE with concomitant α-thalassaemia, with the HbA2 + HbE level in HPLC ranging from 17.3% - 25.7%.
CONCLUSION:
Interactions were found between heterogeneous HbE and α-thalassaemia, resulting in a drop of HbA2 + HbE level in HPLC and densitometry, when comparing to a typical HbE without thalassaemia. A cut-off line was set for heterogeneous HbE carrier in Hong Kong and/or the Chinese population with <26.0% HbE level by HPLC, is suggested to have a relatively high possibility to be diagnosed with HbE with concomitant α-thalassaemia, leading to a complex haemoglobinopathy.
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Degree | Master of Medical Sciences |
Subject | Thalassemia Hemoglobin High performance liquid chromatography |
Dept/Program | Pathology |
Persistent Identifier | http://hdl.handle.net/10722/251341 |
DC Field | Value | Language |
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dc.contributor.author | Lee, Ching-fung | - |
dc.contributor.author | 李晴峰 | - |
dc.date.accessioned | 2018-02-27T09:53:42Z | - |
dc.date.available | 2018-02-27T09:53:42Z | - |
dc.date.issued | 2017 | - |
dc.identifier.citation | Lee, C. [李晴峰]. (2017). An investigation into the effects of alpha thalassaemia on haemoglobin E level by high performance liquid chromatography in heterogeneous haemoglobin E carrier in Hong Kong. (Thesis). University of Hong Kong, Pokfulam, Hong Kong SAR. | - |
dc.identifier.uri | http://hdl.handle.net/10722/251341 | - |
dc.description.abstract | BACKGROUND: Thalassaemia is an inherited blood disorder characterised by reduced α- and β-globin chain production and imbalance due to the defects of globin alleles. It has a high prevalence among the Chinese population in the Southeast Asia. The severity of subclasses, α- and β-thalassaemia, depends on the number of affected globin alleles and can be caused by deletional and/or non-deletional mutation(s). Haemoglobin E (HbE) is mutated haemoglobin with a single point mutation in β-globin chain, which can be detected as variant haemoglobin in high performance liquid chromatography (HPLC) and densitometry. In rare patients with concomitant heterogeneous HbE and α-thalassaemia, there is interaction between HbE and α-thalassaemia leading to the changes in the pattern in HPLC and densitometry. OBJECTIVES: The aim is to investigate the effects of α-thalassaemia on HbE in heterogeneous HbE carrier in Hong Kong and/or the Chinese population by studying HbE level by HPLC and densitometry in subjects with HbE with concomitant α-thalassaemia and comparing that with a typical HbE without thalassaemia. DESIGN: Known samples, n = 58, that recently diagnosed with heterogeneous HbE by elevated HbE level up to ~30% in HPLC were selected for further phenotypic and genotypic analysis, including complete blood count, HbH inclusion bodies screening, haemoglobin electrophoresis for densitometry, α-globin multiplex gap-polymerase chain reaction (PCR) and α-amplification refractory mutation system-PCR, for the determination of the presence of HbE with concomitant α-thalassaemia. Known samples, n = 126, that clinically diagnosed with heterogeneous HbE by HPLC were retrospectively collected from database for selecting patients of interest with HbE with concomitant α-thalassaemia. (n = 184) RESULTS: 27 out of 184 (14.67%) known heterogeneous HbE patients were suggested to be and/or indicated with HbE with concomitant α-thalassaemia, with the HbA2 + HbE level in HPLC ranging from 17.3% - 25.7%. CONCLUSION: Interactions were found between heterogeneous HbE and α-thalassaemia, resulting in a drop of HbA2 + HbE level in HPLC and densitometry, when comparing to a typical HbE without thalassaemia. A cut-off line was set for heterogeneous HbE carrier in Hong Kong and/or the Chinese population with <26.0% HbE level by HPLC, is suggested to have a relatively high possibility to be diagnosed with HbE with concomitant α-thalassaemia, leading to a complex haemoglobinopathy. | - |
dc.language | eng | - |
dc.publisher | The University of Hong Kong (Pokfulam, Hong Kong) | - |
dc.relation.ispartof | HKU Theses Online (HKUTO) | - |
dc.rights | The author retains all proprietary rights, (such as patent rights) and the right to use in future works. | - |
dc.rights | This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. | - |
dc.subject.lcsh | Thalassemia | - |
dc.subject.lcsh | Hemoglobin | - |
dc.subject.lcsh | High performance liquid chromatography | - |
dc.title | An investigation into the effects of alpha thalassaemia on haemoglobin E level by high performance liquid chromatography in heterogeneous haemoglobin E carrier in Hong Kong | - |
dc.type | PG_Thesis | - |
dc.description.thesisname | Master of Medical Sciences | - |
dc.description.thesislevel | Master | - |
dc.description.thesisdiscipline | Pathology | - |
dc.description.nature | published_or_final_version | - |
dc.identifier.doi | 10.5353/th_991043983791803414 | - |
dc.date.hkucongregation | 2017 | - |
dc.identifier.mmsid | 991043983791803414 | - |