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Hb lepore/beta(0)-thalassaemia with alpha(+)-thalassaemia interactions, a potential diagnostic pitfall

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dc.contributor.authorAlauddin, Hen_US
dc.contributor.authorMohamad Nasir, Sen_US
dc.contributor.authorAhadon, Men_US
dc.contributor.authorRaja Sabudin, RZAen_US
dc.contributor.authorIthnin, Aen_US
dc.contributor.authorHussin, NHen_US
dc.contributor.authorAlias, Hen_US
dc.contributor.authorLoh, CKen_US
dc.contributor.authorAbdul Latiff, Zen_US
dc.contributor.authorAbdul Murad, NAen_US
dc.contributor.authorOthman, Aen_US
dc.date.accessioned2024-05-29T02:56:34Z
dc.date.available2024-05-29T02:56:34Z
dc.date.issued2015
dc.description.abstractHaemoglobin (Hb) Lepore is a variant Hb consisting of two alpha-globin and two delta beta-globin chains. In a heterozygote, it is associated with clinical findings of thalassaemia minor, but interactions with other haemoglobinopathies can lead to various clinical phenotypes and pose diagnostic challenges. We reported a pair of siblings from a Malay family, who presented with pallor and hepatosplenomegaly at the ages of 21 months and 14 months old. The red cell indices and peripheral blood smears of both patients showed features of thalassaemia intermedia. Other laboratory investigations of the patients showed conflicting results. However, laboratory investigation results of the parents had led to a presumptive diagnosis of compound heterozygote Hb Lepore/beta-thalassaemia and co-inheritance alpha(+)-thalassaemia (-alpha(3.7)). Hb Lepore has rarely been detected in Southeast Asian countries, particularly in Malaysia. These two cases highlight the importance of family studies for accurate diagnosis, hence appropriate clinical management and genetic counseling.
dc.identifier.epage292
dc.identifier.issn0126-8635
dc.identifier.issue3
dc.identifier.scopusWOS:000368672600013
dc.identifier.spage287
dc.identifier.urihttps://oarep.usim.edu.my/handle/123456789/11591
dc.identifier.volume37
dc.languageEnglish
dc.language.isoen_US
dc.publisherMalaysian Journal Pathologyen_US
dc.relation.ispartofMalaysian Journal Of Pathology
dc.sourceWeb Of Science (ISI)
dc.subjectHb Leporeen_US
dc.subjectbeta-thalassaemiaen_US
dc.subjectalpha(+)-thalassaemiaen_US
dc.titleHb lepore/beta(0)-thalassaemia with alpha(+)-thalassaemia interactions, a potential diagnostic pitfall
dc.typeArticleen_US
dspace.entity.typePublication

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