title: Hb lepore/β0-thalassaemia with α+-thalassaemia interactions, a potential diagnostic pitfall.
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.
authors.affiliation: UKM Medical Centre, Department of Pathology, Pre-Clinical Building, Level 15, Jalan Yaacob Latiff, 56000 Cheras, Kuala Lumpur, Malaysia. drhafiza@ppukm.ukm.edu.my.
authors.forename: Hafiza
authors.initials: H
authors.lastname: Alauddin
authors.forename: Suziana
authors.initials: S
authors.lastname: Mohamad Nasir
authors.forename: Madzlifah
authors.initials: M
authors.lastname: Ahadon
authors.forename: Raja Zahratul Azma
authors.initials: RZ
authors.lastname: Raja Sabudin
authors.forename: Azlin
authors.initials: A
authors.lastname: Ithnin
authors.forename: Noor Hamidah
authors.initials: NH
authors.lastname: Hussin
authors.forename: Hamidah
authors.initials: H
authors.lastname: Alias
authors.forename: C-Khai
authors.initials: CK
authors.lastname: Loh
authors.forename: Zarina
authors.initials: Z
authors.lastname: Abdul Latiff
authors.forename: Nor Azian
authors.initials: NA
authors.lastname: Abdul Murad
authors.forename: Ainoon
authors.initials: A
authors.lastname: Othman
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008296:Malaysia; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010641:Phenotype; D035781:Siblings; D017085:alpha-Thalassemia / Q000097:blood / Q000235:genetics*; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C037659:hemoglobin Lepore