Hb lepore/β0-thalassaemia with α+-thalassaemia interactions, a potential diagnostic pitfall

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

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Abstract

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

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