Sickle - Cell Disease

S. Phadnis
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引用次数: 0

Abstract

Sickle cell disease is a common inherited, multisystem, monogenic disorder of red blood cells (erythrocytes) caused due to polymorphic changes in hemoglobin. The most commonly known condition; Sickle cell anemia wherein there aren’t enough healthy RBCs to carry adequate oxygen throughout the body is considered to be a common form if Sickle-cell disease. Other type of Sickle cell disease is Hemoglobin SC disease (HbSC) caused due to inheritance of beta s and beta c alleles. The third type of such disease is HbS thalassemia caused due to beta-thalassemia mutation in the beta-globin gene leading to Sickle hemoglobin (HbS). Polymerization of HbS due to presence of fetal hemoglobin in the erythrocytes that in turn reduces the concentration of HbS which becomes the prominent determinant to check the severity of the disease. Reduced concentrations of HbS also reduce hemolysis that prevents acute vaso- occlusion. This pain is caused as the irregular shaped RBCs and WBCs get entrapped in the small blood vessels causing vascular obstruction and tissue ischemia. HbS polymerization can also lead to hemolytic anemia which is a state where in rate of RBC destruction is faster than formation; such patients are likely to develop vasculopathy. During the process of hemolysis, hemoglobin is released into plasma that inhibits endothelial nitric oxide signaling causing endothelial cell dysfunction. Hemolysis is also associated with formation of erythrocyte microvesicles that acts as a activator of tissue factor. Malaria is considered to cause HbS. Sickle cell disease is found to be highest in the African continent mostly affecting the new borns. The cause of deaths is hug in Africa due to poor diagnostic facilities. Measures taken against H influenzae and S pneumoniae that is profoundly detected in African children with Sickle cell disease can help reduce the disease proximity. Implementation of early life screening can thereby be effective in this case.
镰状细胞病
镰状细胞病是一种常见的遗传性、多系统、单基因的红细胞疾病,由血红蛋白的多态性改变引起。最常见的情况;镰状细胞性贫血是一种常见的镰状细胞病,其中没有足够的健康红细胞在全身携带足够的氧气。镰状细胞病的另一种类型是血红蛋白SC病(HbSC),由β s和β c等位基因遗传引起。这种疾病的第三种类型是HbS地中海贫血,是由于-珠蛋白基因中的-地中海贫血突变导致镰状血红蛋白(HbS)而引起的。由于红细胞中胎儿血红蛋白的存在,HbS的聚合反过来降低了HbS的浓度,这成为检查疾病严重程度的重要决定因素。HbS浓度的降低还能减少溶血,从而防止急性血管闭塞。这种疼痛是由于不规则形状的红细胞和白细胞被困在小血管中,引起血管阻塞和组织缺血。HbS聚合也会导致溶血性贫血这是一种红细胞破坏速度快于形成速度的状态;这样的病人很可能发展成血管病变。在溶血过程中,血红蛋白被释放到血浆中,抑制内皮一氧化氮信号,导致内皮细胞功能障碍。溶血还与红细胞微泡的形成有关,红细胞微泡是组织因子的激活剂。疟疾被认为是导致HbS的原因。镰状细胞病在非洲大陆发病率最高,主要影响新生儿。在非洲,由于诊断设施差,死亡原因很严重。针对在患有镰状细胞病的非洲儿童中广泛发现的流感嗜血杆菌和肺炎链球菌采取的措施有助于减少疾病的接近性。因此,在这种情况下,实施早期生命筛查是有效的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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