Asian Journal of Transfusion Science
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CASE REPORT
Year : 2017  |  Volume : 11  |  Issue : 2  |  Page : 199-202

Coinheritance of hemoglobin D-Punjab and β0-thalassemia 3.4 kb deletion in a Thai girl


1 Department of Medical Technology, School of Allied Health Sciences, University of Phayao, Phayao, Thailand
2 Depertment of Clinical Pathology, Hatyai Hospital, Songkhla, Thailand
3 Department of Medical Technology, Faculty of Associated Medical Sciences, Chiang Mai University, Chiang Mai, Thailand

Correspondence Address:
Sakorn Pornprasert
Department of Medical Technology, Faculty of Associated Medical Sciences, Chiang Mai University, 110 Intawaroros Road, Chiang Mai 50200
Thailand
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ajts.AJTS_117_16

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Hemoglobin (Hb) D-Punjab [β 121(GH4) Glu→ln; HBB: C.364G>C] and β0-thalassemia 3.4 kb deletion are very rare in the Thai population. For the first time, the coinheritance of HbD-Punjab with β0-thalassemia 3.4 kb deletion was reported in a 7-year-old Thai girl. She had mild anemia (Hb 115.0 g/L and mean corpuscular hemoglobin 18.1 pg) with red blood cell microcytosis (mean corpuscular volume 52.5 fL). By capillary electrophoresis (CE), HbD-Punjab was found at a migration position of 180 s with the value of 81.9% while the level of HbA2was 7.3%. Based on the elevated HbA2, the molecular analysis for detection of β0-thalassemia mutations was performed. The 490 bp amplified fragments from β0-thalassemia 3.4 kb deletion was observed. Thus, the coinheritance of HbD-Punjab with β0-thalassemia can be found in the Thai population. The HbA2measured on CE is a reliable parameter for differentiating the homozygote of HbD-Punjab and compound heterozygote of HbD-Punjab and β0-thalassemia.


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2006 - Asian Journal of Transfusion Science | Published by Wolters Kluwer - Medknow
Online since 10th November, 2006