Hb Lepore/β0-Thalassaemia With α+-Thalassaemia Interactions, A Potential Diagnostic Pitfall
- Author:
Hafiza Alauddin
;
Suziana Mohamad Nasir
;
Madzlifah Ahadon
;
Raja Zahratul Azma Raja Sabudin
;
Azlin Ithnin
;
Noor Hamidah Hussin
;
Hamidah Alias
;
Loh C-Khai
;
Zarina Abdul Latiff
;
Nor Azian Abdul Murad
;
Ainoon Othman
- Publication Type:Case Reports
- Keywords:
Hb Lepore;
β-thalassaemia;
α+-thalassaemia
- From:The Malaysian Journal of Pathology
2015;37(3):287-292
- CountryMalaysia
- Language:English
-
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.
- Full text:P020160315424301291915.pdf
