Panyasai Sitthichai, Rahad Sarinna, Pornprasert Sakorn
Department of Medical Technology, School of Allied Health Sciences, University of Phayao, Phayao, Thailand.
Depertment of Clinical Pathology, Hatyai Hospital, Songkhla, Thailand.
Asian J Transfus Sci. 2017 Jul-Dec;11(2):199-202. doi: 10.4103/ajts.AJTS_117_16.
Hemoglobin (Hb) D. Punjab [β121(GH4) Glu→Gln; HBB: C.364G>C] and β-thalassemia 3.4 kb deletion are very rare in the Thai population. For the first time, the coinheritance of HbD-Punjab with β-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 HbA was 7.3%. Based on the elevated HbA, the molecular analysis for detection of β-thalassemia mutations was performed. The 490 bp amplified fragments from β-thalassemia 3.4 kb deletion was observed. Thus, the coinheritance of HbD-Punjab with β-thalassemia can be found in the Thai population. The HbA measured on CE is a reliable parameter for differentiating the homozygote of HbD-Punjab and compound heterozygote of HbD-Punjab and β-thalassemia.
血红蛋白（Hb）D. 旁遮普型[β121（GH4）谷氨酸→谷氨酰胺；HBB：C.364G>C]与β地中海贫血3.4 kb缺失在泰国人群中极为罕见。首次报道了一名7岁泰国女孩中HbD - 旁遮普型与β地中海贫血3.4 kb缺失的共同遗传情况。她有轻度贫血（血红蛋白115.0 g/L，平均红细胞血红蛋白18.1 pg），伴有红细胞小红细胞症（平均红细胞体积52.5 fL）。通过毛细管电泳（CE），在迁移位置180 s处发现HbD - 旁遮普型，其值为81.9%，而HbA水平为7.3%。基于升高的HbA，进行了检测β地中海贫血突变的分子分析。观察到来自β地中海贫血3.4 kb缺失的490 bp扩增片段。因此，在泰国人群中可发现HbD - 旁遮普型与β地中海贫血的共同遗传情况。毛细管电泳测得的HbA是区分HbD - 旁遮普型纯合子以及HbD - 旁遮普型与β地中海贫血复合杂合子的可靠参数。
