Haemoglobin Lepore in a Malay Family: A Case Report

Pasangna, J.; George, E.; Nagaratnam, M. (2005) Haemoglobin Lepore in a Malay Family: A Case Report. Malaysian Journal of Pathology, 27 (1). pp. 33-37. ISSN 0126-8635

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    Abstract

    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.

    Item Type: Article
    Creators:
    1. Pasangna, J.(University of Malaya)
    2. George, E.(University Putra Malaysia)
    3. Nagaratnam, M.(University of Malaya)
    Journal or Publication Title: Malaysian Journal of Pathology
    Additional Information: University of Malaya, Faculty of Medicine. Dept. of Pathology
    Uncontrolled Keywords: Haemoglobin Lepore; Thalassaemia-like Disorder
    Subjects: R Medicine > RB Pathology
    Divisions: Faculty of Medicine
    Depositing User: Mr. Faizal Hamzah
    Date Deposited: 10 Aug 2011 10:50
    Last Modified: 10 Aug 2011 10:50
    URI: http://eprints.um.edu.my/id/eprint/1974

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