Biochemia Medica, Vol. 24 No. 1, 2014.
Pregledni rad
https://doi.org/10.11613/BM.2014.019
Interaction of hemoglobin Grey Lynn (Vientiane) with a non-deletional α+-thalassemia in an adult Thai proband
Kritsada Singha
; The Medical Science Program, Graduate School, Khon Kaen University, Thailand; Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Thailand
Goonnapa Fucharoen
; Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Thailand
Supan Fucharoen
; Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Thailand
Sažetak
Hemoglobin (Hb) Grey Lynn is a Hb variant caused by a substitution of Phe for Leu at position 91 of α1-globin chain, originally described in individual of unknown ethnic background. This article addresses the interaction of Hb Grey Lynn with a non-deletional α+-thalassemia found in Thailand, a hitherto un-described condition. The proband was adult Thai woman referred for investigation of mild anemia with Hb 90 g/L. Hb analyses using low pressure liquid chromatography raised a suspicion of abnormal Hb presence, which was failed to demonstrate by cellulose acetate electrophoresis and capillary electrophoresis. DNA sequencing identified a CTT (Leu) to TTT (Phe) mutation at codon 91 corresponding to the Hb Grey Lynn (Vientiane) [α91(FG3)Leu>Phe (α1) on α1-globin gene and a C deletion between codons 36 and 37 on α2-globin gene causing α+-thalassemia. As compared to those observed in a compound heterozygote for Hb Grey Lynn / α0-thalassemia reported previously, higher MCV (81.7 fL) and MCH (26.3 pg) values with a lower level of Hb Grey Lynn (19.7%) were observed in the proband. The normochromic normocytic anemia observed could be due to the interaction of Hb Grey Lynn with α+-thalassemia. The two mutations could be identified using PCR-RFLP and allele-specific PCR assays developed.
Ključne riječi
hemoglobin Grey Lynn; α-thalassemia; hemoglobinopathies
Hrčak ID:
115759
URI
Datum izdavanja:
15.2.2014.
Posjeta: 1.063 *