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合并遗传性地中海贫血和葡萄糖-6-磷酸脱氢酶缺乏症患者的贫血

Anemia in patients with coinherited thalassemia and glucose-6-phosphate dehydrogenase deficiency.

作者信息

Pornprasert Sakorn, Phanthong Siratcha

机构信息

Department of Medical Technology, Faculty of Associated Medical Sciences, Chiang-Mai University , Chiang-Mai , Thailand.

出版信息

Hemoglobin. 2013;37(6):536-43. doi: 10.3109/03630269.2013.819558. Epub 2013 Aug 14.

Abstract

Thalassemia and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency are genetic disorders that cause hemolytic anemia. In areas with high frequencies of both hematological disorders, coinheritance of G-6-PD deficiency with thalassemia can be found. Whether G-6-PD deficiency, coinherited with thalassemia, enhances severe anemia is still unclear. Hematological parameters between thalassemia carriers with G-6-PD deficiency and those without G-6-PD deficiency were compared. The G-6-PD deficiency was diagnosed in 410 blood samples from thalassemia patients using a fluorescent spot test. The levels of hemoglobin (Hb), packed cell volume (PCV), mean corpuscular volume (MCV) and Hb A2/Hb E [β26(B8)Glu→Lys; HBB: c.79G>A] were measured using an automated blood counter and high performance liquid chromatography (HPLC), respectively. The G-6-PD deficiency was found in 37 samples (9.02%). Mean levels of Hb, PCV, MCV and Hb A2/E were similar between the two groups. Thus, G-6-PD deficiency did not enhance red blood cell pathology or induce more anemic severity in thalassemia patients.

摘要

地中海贫血和葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏症是导致溶血性贫血的遗传性疾病。在这两种血液疾病高发地区,可发现G-6-PD缺乏症与地中海贫血的共同遗传情况。G-6-PD缺乏症与地中海贫血共同遗传是否会加重严重贫血尚不清楚。对患有G-6-PD缺乏症的地中海贫血携带者和未患G-6-PD缺乏症的地中海贫血携带者的血液学参数进行了比较。使用荧光斑点试验对410份地中海贫血患者的血样进行G-6-PD缺乏症诊断。分别使用自动血液计数器和高效液相色谱法(HPLC)测量血红蛋白(Hb)、血细胞比容(PCV)、平均红细胞体积(MCV)以及Hb A2/Hb E[β26(B8)Glu→Lys;HBB:c.79G>A]水平。在37份样本(9.02%)中发现了G-6-PD缺乏症。两组之间Hb、PCV、MCV和Hb A2/E的平均水平相似。因此,G-6-PD缺乏症不会加重地中海贫血患者的红细胞病变或导致更严重的贫血。

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