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Title: | The variable phenotypes of haemoglobin D in Sri Lankan patients |
Authors: | Premawardhena, A. Arambepola, M. Weatherall, D. |
Keywords: | phenotypes of haemoglobin D |
Issue Date: | 2006 |
Publisher: | Sri Lanka Medical Association |
Citation: | The Ceylon Medical Journal. 2006; 51(Supplement 1):13 |
Abstract: | INTRODUCTION: There are only few reports of the occurrence of the variant haemoglobin, haemoglobin D Punjab (β 121 Glu-Gln) in Sri Lanka and its clinical spectrum has not been well documented. MATERIALS AND METHODS: During the clinical study of patients attending the thalassaemia clinic at Teaching Hospital Kurunegala we identified several individuals with haemoglobin D, some of whom had co-inherited it with other haemoglobin disorders. They were diagnosed using High Performance Liquid Chromatography (Bio Rad, USA) and later confirmed by polymerase chain reaction. CLINICAL STUDIES: Family 1: (Hb D-p thalassaemia) Describes a family with two individuals with haemoglobin D- β thalassaemia. Both were mildly anaemic but had severe hypochromasia and microcytosis. They were otherwise well. Family 2: (Hb D- Hb S disease) The propositus was an eight year old girl who presented with several episodes of sickling crises. Parents were carriers for Hb S and Hb D. Family 3: (Hb D- Hb E disease) The propositus was an individual with Hb E- Hb D disease. She was clinically well and the only abnormality was severe hypochromasia and microcytosis. DISCUSSION: Hb D when co-inherited with Hb E or thalassaemia does not appear to cause clinically significant disease. The co-inheritance of Hb D with Hb S, however, results in severe disease leading to sickling crises. Even though Hb D commonly does not cause severe disease, knowledge of its occurrence is important as the hypochromasia and microcytosis associated with it may lead to unnecessary iron therapy. |
Description: | Oral Presentation Abstract (OP13), 119th Annual Scientific Sessions, Sri Lanka Medical Association, 2006 Colombo, Sri Lanka |
URI: | http://repository.kln.ac.lk/handle/123456789/9971 |
ISSN: | 0009-0875 (Print) |
Appears in Collections: | Conference Papers |
Files in This Item:
File | Description | Size | Format | |
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OP 13.docx | 12.39 kB | Microsoft Word XML | View/Open |
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