Laboratory diagnosis of a compound heterozygosity for Hb Hekinan [alpha27(B8) Glu-Asp] and a deletional alpha-thalassaemia 2 in Thailand.
We report the haematological and molecular characterization of a previously undescribed condition of compound heterozygosity for haemoglobin (Hb) Hekinan [alpha27(B8) Glu-Asp] and a deletional alpha-thalassaemia 2 detected in a Thai individual. Hb analysis demonstrated that although this Hb variant co-migrates with Hb A on cellulose acetate electrophoresis and cation-exchange high-performance liquid chromatography (HPLC), the HPLC procedure using a weak cation-exchange material with polyaspartic acid could clearly differentiate the two Hb. The variant could then be confirmed using the polymerase chain reaction-restriction fragment-length polymorphism (PCR-RFLP) analysis of the amplified alpha1-globin gene.
Chunpanich
S
S
Department of Clinical Chemistry, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
Ayukarn
K
K
Sanchaisuriya
K
K
Fucharoen
G
G
Fucharoen
S
S
D000328:Adult; D019411:Clinical Laboratory Techniques; D005914:Globins / Q000235:genetics; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D017384:Sequence Deletion; D013785:Thailand; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000235:genetics
D006455:Hemoglobins, Abnormal; C056356:hemoglobin Hekinan; D005914:Globins