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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2005
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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/ |
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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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1643686810444890112 |
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