Hb lepore/β0-thalassaemia with α+-thalassaemia interactions, a potential diagnostic pitfall
Haemoglobin (Hb) Lepore is a variant Hb consisting of two α-globin and two δβ-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 re...
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| Format: | Article |
| Language: | English |
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Malaysian Society of Pathologists
2015
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| Online Access: | http://ir.unimas.my/id/eprint/15206/ http://ir.unimas.my/id/eprint/15206/1/Hb-lepore%CE%B2sup0sup-thalassaemia-with-%CE%B1sup%2Bsup-thalassaemia-interactions%2C-a-potential-diagnostic-pitfall_2015_Malaysian-Journal-of-Pathology.html |
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| author | Hafiza, Alauddin Suziana, Mohamad Nasir Madzlifah, Ahadon Raja Zahratul Azma, Raja Azma Azlin, Ithnin Noor Hamidah, Hamidah Hamidah, B. Alias Loh, C. Khai Zarina, Abdul-Latiff Nor Azian, Abdul Murad Ainoon, Othman |
| author_facet | Hafiza, Alauddin Suziana, Mohamad Nasir Madzlifah, Ahadon Raja Zahratul Azma, Raja Azma Azlin, Ithnin Noor Hamidah, Hamidah Hamidah, B. Alias Loh, C. Khai Zarina, Abdul-Latiff Nor Azian, Abdul Murad Ainoon, Othman |
| author_sort | Hafiza, Alauddin |
| building | UNIMAS Institutional Repository |
| collection | Online Access |
| description | Haemoglobin (Hb) Lepore is a variant Hb consisting of two α-globin and two δβ-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/β-thalassaemia and co-inheritance α+-thalassaemia (-α3.7). 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 |
| first_indexed | 2025-11-15T06:45:29Z |
| format | Article |
| id | unimas-15206 |
| institution | Universiti Malaysia Sarawak |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-15T06:45:29Z |
| publishDate | 2015 |
| publisher | Malaysian Society of Pathologists |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | unimas-152062017-02-06T02:08:33Z http://ir.unimas.my/id/eprint/15206/ Hb lepore/β0-thalassaemia with α+-thalassaemia interactions, a potential diagnostic pitfall Hafiza, Alauddin Suziana, Mohamad Nasir Madzlifah, Ahadon Raja Zahratul Azma, Raja Azma Azlin, Ithnin Noor Hamidah, Hamidah Hamidah, B. Alias Loh, C. Khai Zarina, Abdul-Latiff Nor Azian, Abdul Murad Ainoon, Othman R Medicine (General) RB Pathology Haemoglobin (Hb) Lepore is a variant Hb consisting of two α-globin and two δβ-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/β-thalassaemia and co-inheritance α+-thalassaemia (-α3.7). 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 Malaysian Society of Pathologists 2015-12 Article PeerReviewed text en http://ir.unimas.my/id/eprint/15206/1/Hb-lepore%CE%B2sup0sup-thalassaemia-with-%CE%B1sup%2Bsup-thalassaemia-interactions%2C-a-potential-diagnostic-pitfall_2015_Malaysian-Journal-of-Pathology.html Hafiza, Alauddin and Suziana, Mohamad Nasir and Madzlifah, Ahadon and Raja Zahratul Azma, Raja Azma and Azlin, Ithnin and Noor Hamidah, Hamidah and Hamidah, B. Alias and Loh, C. Khai and Zarina, Abdul-Latiff and Nor Azian, Abdul Murad and Ainoon, Othman (2015) Hb lepore/β0-thalassaemia with α+-thalassaemia interactions, a potential diagnostic pitfall. Malaysian Journal of Pathology, 37 (3). pp. 287-292. ISSN 01268635 https://www.scopus.com/inward/record.uri?eid=2-s2.0-84952309035&partnerID=40&md5=b7383cba3989c0053a1c83261268b235 |
| spellingShingle | R Medicine (General) RB Pathology Hafiza, Alauddin Suziana, Mohamad Nasir Madzlifah, Ahadon Raja Zahratul Azma, Raja Azma Azlin, Ithnin Noor Hamidah, Hamidah Hamidah, B. Alias Loh, C. Khai Zarina, Abdul-Latiff Nor Azian, Abdul Murad Ainoon, Othman Hb lepore/β0-thalassaemia with α+-thalassaemia interactions, a potential diagnostic pitfall |
| title | Hb lepore/β0-thalassaemia with α+-thalassaemia interactions, a potential diagnostic pitfall |
| title_full | Hb lepore/β0-thalassaemia with α+-thalassaemia interactions, a potential diagnostic pitfall |
| title_fullStr | Hb lepore/β0-thalassaemia with α+-thalassaemia interactions, a potential diagnostic pitfall |
| title_full_unstemmed | Hb lepore/β0-thalassaemia with α+-thalassaemia interactions, a potential diagnostic pitfall |
| title_short | Hb lepore/β0-thalassaemia with α+-thalassaemia interactions, a potential diagnostic pitfall |
| title_sort | hb lepore/β0-thalassaemia with α+-thalassaemia interactions, a potential diagnostic pitfall |
| topic | R Medicine (General) RB Pathology |
| url | http://ir.unimas.my/id/eprint/15206/ http://ir.unimas.my/id/eprint/15206/ http://ir.unimas.my/id/eprint/15206/1/Hb-lepore%CE%B2sup0sup-thalassaemia-with-%CE%B1sup%2Bsup-thalassaemia-interactions%2C-a-potential-diagnostic-pitfall_2015_Malaysian-Journal-of-Pathology.html |