Molecular and haematological characterization of compound Hb E/Hb Pyrgos and Hb E/Hb J-Bangkok in Thai patients

Summary We describe haematological and DNA characterization of haemoglobinopathies in Thai adolescents caused by compound heterozygosities for Hb E [β26(B8) Glu‐Lys] and two other β‐globin chain variants, Hb Pyrgos [β83(EF7) Gly‐Asp] and Hb J Bangkok [β56(D7) Gly‐Asp]. Hb analysis demonstrated that...

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Bibliographic Details
Published in:Clinical and laboratory haematology 2005-06, Vol.27 (3), p.184-189
Main Authors: FUCHAROEN, S., SINGSANAN, S., SANCHAISURIYA, K., FUCHAROEN, G.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Alleles
Child
Diagnosis, Differential
DNA - analysis
DNA - genetics
Female
Genetic Testing
Haplotypes
Hb E
Hb J Bangkok
Hb Pyrgos
Hemoglobin E - analysis
Hemoglobin E - genetics
Hemoglobin J - analysis
Hemoglobin J - genetics
Hemoglobinopathies - diagnosis
Hemoglobinopathies - epidemiology
Hemoglobinopathies - genetics
Hemoglobins, Abnormal - analysis
Hemoglobins, Abnormal - genetics
Heterozygote
Humans
Multiplex-allele-specific PCR
Polymerase Chain Reaction
Pregnancy
Thailand - epidemiology
β-globin haplotype
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Summary:Summary We describe haematological and DNA characterization of haemoglobinopathies in Thai adolescents caused by compound heterozygosities for Hb E [β26(B8) Glu‐Lys] and two other β‐globin chain variants, Hb Pyrgos [β83(EF7) Gly‐Asp] and Hb J Bangkok [β56(D7) Gly‐Asp]. Hb analysis demonstrated that although these two β‐chain variants have separated elution profiles on liquid chromatography‐based Hb analysis, they have similar alkaline electrophoretic mobilities on cellulose acetate electrophoresis. Haematological data associated with these two previously undescribed conditions were compared with those of pure carriers of the variants found in other unrelated Thai individuals. β‐Globin gene haplotypes linked to these two β‐chain variants and a simple DNA testing based on multiplex allele‐specific polymerized chain reaction for differential diagnosis are presented.
ISSN:0141-9854
1365-2257
DOI:10.1111/j.1365-2257.2005.00665.x