Haptoglobin Genotypes Associated with Vaso-Occlusive Crisis in Sickle Cell Anemia Patients of Eastern India
Haptoglobin Genotypes Associated with Vaso-Occlusive Crisis in Sickle Cell Anemia Patients of Eastern India
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DOI：
10.1080/03630269.2020.1801459
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发表时间：
2020-12-30
期刊：
影响因子：
1
通讯作者：
Dash, Bisnu P.
中科院分区：
文献类型：
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作者：
Meher, Satyabrata;Mohanty, Pradeep K.;Dash, Bisnu P.
镰状细胞性贫血的特点是溶血，其将血红蛋白（Hb）释放到血浆中，促进血管闭塞危象（VOC）。结合珠蛋白（Hp）清除游离血红蛋白，减少镰状细胞贫血中血红蛋白相关的病理生理学。Hp有两种等位基因（HP 1和HP 2）和三种基因型（HP 1 -1、HP 1 -2和HP 2 -2），在不同人群中的频率不同。本研究涉及不同VOC严重程度的正常人和镰状细胞性贫血患者的Hp水平和基因型。共选择297例镰状细胞贫血患者和98例健康对照者进行研究。镰状细胞性贫血患者被归类为“轻度表型”，没有疼痛发作，“严重表型”，在过去的12个月内有三次或更多的急性疼痛发作。镰状细胞贫血组Hp水平显著低于对照组（p < 0.001），HP 1 -1基因型Hp水平显著高于HP 1 -2和HP 2 -2（p < 0.05）。Turkey-Kramer多重比较检验显示，轻、重度表型之间在Hb F%、Hb、血小板计数、谷草转氨酶（AST）、谷丙转氨酶（ALT）、直接胆红素（Bil-D）、总胆红素（Bil-T）、乳酸脱氢酶（LDH）和Hp水平上差异有统计学意义（p < 0.05）。Pearson相关分析显示Hp水平与Hb F%、Hb、PCV、血清尿素呈正相关（p < 0.05），与AST、ALT、Bil-T、LDH呈负相关（p < 0.05）。在重度表型中，HP 2等位基因和HP 2 -2基因型的频率显著增高。在研究的人群中，发现较高的HP 2频率、较低的Hp水平和较多的溶血有利于镰状细胞性贫血中VOC的发生。
Sickle cell anemia is hallmarked by hemolysis, which releases hemoglobin (Hb) into the plasma promoting vaso-occlusive crisis (VOC). Haptoglobin (Hp) clears free Hb and decreases Hb-related pathophysiology in sickle cell anemia. There are two alleles (HP1 and HP2) and three genotypes (HP1-1, HP1-2 and HP2-2) of Hp with different frequencies in different populations. This study involved Hp level and genotype among normal and sickle cell anemia patients with varying severity of VOC. A total of 297 sickle cell anemia patients and 98 healthy controls were selected for the study. The sickle cell anemia patients were categorized as 'mild-phenotype' with no pain episodes and 'severe-phenotype' as having three or more acute pain episodes in the preceding 12 months. The Hp level was significantly lower (p < 0.001) in sickle cell patients anemia than controls; HP1-1 genotype had a higher Hp level compared to HP1-2 and HP2-2 (p < 0.05). Turkey-Kramer multiple comparison tests showed that mild and severe phenotypes have significant differences (p < 0.05) in Hb F%, Hb, platelet count, aspartate aminotransferase (AST), alanine aminotransferase (ALT), direct-bilirubin (Bil-D), total-bilirubin (Bil-T), lactate dehydrogenase (LDH) and Hp level. Pearson correlation revealed that Hp level has a positive (p < 0.05) correlation with Hb F%, Hb, packed cell volume (PCV) and serum urea; in contrast its level is negatively correlated with AST, ALT, Bil-T and LDH. A significantly higher frequency of HP2 allele and HP2-2 genotypes was found in severe phenotypes. In the studied population, it was found that higher HP2 frequency, low Hp level and more hemolysis favors the onset of VOC in sickle cell anemia.