Haemoglobin Lepore in a Malay Family: A Case Report

A 2-year-old Malay boy was brought to the University Malaya Medical Centre for thalassaemia screening. Physical examination revealed thalassaemia facies, pallor, mild jaundice, hepatomegaly and splenomegaly. Laboratory investigations on the patient including studies on the parents lead to a presumpt...

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Main Authors: Pasangna, J., George, E., Nagaratnam, M.
Format: Article
Language:English
Published: Malaysian Society of Pathologists 2005
Subjects:
Online Access:http://eprints.um.edu.my/1974/1/10.pdf
http://eprints.um.edu.my/1974/
http://myais.fsktm.um.edu.my/3821/
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spelling my.um.eprints.19742011-08-10T02:50:26Z http://eprints.um.edu.my/1974/ Haemoglobin Lepore in a Malay Family: A Case Report Pasangna, J. George, E. Nagaratnam, M. RB Pathology A 2-year-old Malay boy was brought to the University Malaya Medical Centre for thalassaemia screening. Physical examination revealed thalassaemia facies, pallor, mild jaundice, hepatomegaly and splenomegaly. Laboratory investigations on the patient including studies on the parents lead to a presumptive diagnosis of homozygous Haemoglobin Lepore (Hb Lepore). The aim of this paper is to increase awareness of this rare disorder, this being the first case documented in Malaysia in a Malay. The case also demonstrates the need for this disorder to be included in the differential diagnosis of patients presenting clinically like thalassemia intermedia or thalassemia major. Accurate diagnosis would provide information necessary for prenatal diagnosis, proper clinical management and genetic counseling. The clinical, haematological and laboratory features of this disorder are discussed in this paper. Malaysian Society of Pathologists 2005 Article PeerReviewed application/pdf en http://eprints.um.edu.my/1974/1/10.pdf Pasangna, J. and George, E. and Nagaratnam, M. (2005) Haemoglobin Lepore in a Malay Family: A Case Report. Malaysian Journal of Pathology, 27 (1). pp. 33-37. ISSN 0126-8635 http://myais.fsktm.um.edu.my/3821/
institution Universiti Malaya
building UM Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Malaya
content_source UM Research Repository
url_provider http://eprints.um.edu.my/
language English
topic RB Pathology
spellingShingle RB Pathology
Pasangna, J.
George, E.
Nagaratnam, M.
Haemoglobin Lepore in a Malay Family: A Case Report
description A 2-year-old Malay boy was brought to the University Malaya Medical Centre for thalassaemia screening. Physical examination revealed thalassaemia facies, pallor, mild jaundice, hepatomegaly and splenomegaly. Laboratory investigations on the patient including studies on the parents lead to a presumptive diagnosis of homozygous Haemoglobin Lepore (Hb Lepore). The aim of this paper is to increase awareness of this rare disorder, this being the first case documented in Malaysia in a Malay. The case also demonstrates the need for this disorder to be included in the differential diagnosis of patients presenting clinically like thalassemia intermedia or thalassemia major. Accurate diagnosis would provide information necessary for prenatal diagnosis, proper clinical management and genetic counseling. The clinical, haematological and laboratory features of this disorder are discussed in this paper.
format Article
author Pasangna, J.
George, E.
Nagaratnam, M.
author_facet Pasangna, J.
George, E.
Nagaratnam, M.
author_sort Pasangna, J.
title Haemoglobin Lepore in a Malay Family: A Case Report
title_short Haemoglobin Lepore in a Malay Family: A Case Report
title_full Haemoglobin Lepore in a Malay Family: A Case Report
title_fullStr Haemoglobin Lepore in a Malay Family: A Case Report
title_full_unstemmed Haemoglobin Lepore in a Malay Family: A Case Report
title_sort haemoglobin lepore in a malay family: a case report
publisher Malaysian Society of Pathologists
publishDate 2005
url http://eprints.um.edu.my/1974/1/10.pdf
http://eprints.um.edu.my/1974/
http://myais.fsktm.um.edu.my/3821/
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score 13.211869