镰状细胞贫血症 Sickle Cell Anemia

  什么是镰状细胞性贫血症

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镰状细胞性贫血症是一种遗传性血液病，表现为镰状细胞贫血。红细胞通常有一个圆形的形状，并且是柔软的，这使它们能够轻易地通过血管。镰状细胞性贫血症患者的红细胞形状则像镰刀或月牙。这些细胞会阻碍血液流动，因为它们是僵硬的，难以移动。典型的红细胞的寿命是120天。然而，镰刀形细胞只有 10 至 20 天。如果没有足够数量的健康红细胞，就会出现贫血。

Sickle Cell Disease, an inherited blood condition, manifests itself as sickle cell anemia.Red blood cells typically have a rounded shape and are flexible, allowing them to pass throughblood vessels easily. Red blood cells in sickle cell anemia are shaped like sickles or crescent moons.These cells can obstruct blood flow because they are stiff and difficult to move. The lifespan oftypical red blood cells is 120 days. Yet, sickle cells only have 10 to 20 days. Without sufficientnumbers of healthy red blood cells, anemia will develop.

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  新生儿的镰状细胞贫血症可以持续数月而不显示任何迹象。当症状出现时，它们包括由贫血引起的过度疲倦或烦躁，令人痛苦的手脚肿胀，以及黄疸-皮肤变为黄色。此外，婴儿可能会出现脾脏损伤，损害他们的免疫系统，提高他们对细菌感染的脆弱性。镰状细胞性贫血症患者随着年龄的增长，可能会出现各种日益严重的医疗问题，当器官组织不能得到足够的氧气时，就会出现这些问题。中风、肺部、肾脏、脾脏和肝脏的损害在镰状细胞贫血症患者中都是比较容易发生的。

Sickle cell anemia in newborns can last months without showing any signs. When thesymptoms do emerge, they include excessive weariness or fussiness caused by anemia,excruciatingly swollen hands and feet, and jaundice - yellow discoloration of a newborn. Additionally,infants may experience spleen damage that compromises their immune systems and raises their vulnerability to bacterial infections. People with sickle cell anemia may have

various and increasingly significant medical problems as they age, which occur when organ tissues do not receive enough oxygen. Stroke, lung, kidney, spleen, and liver damage are all more likely in those with sickle cell anemia.

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  镰状细胞性贫血症是由指示身体产生血红蛋白的基因突变引起的，血红蛋白是红血球的一个重要组成部分。血红蛋白能使血细胞能够将氧气从肺部输送到全身。与镰状细胞性贫血症有关的血红蛋白导致红细胞变得僵硬、粘稠和起皱。患有镰状细胞性贫血症的患者只可能从父母双方那里继承这种疾病。镰状细胞性状存在于从亲生父母一方接受突变基因的个体中。尽管他们的血液中可能存在一些镰状细胞，但个人通常不会表现出任何症状。然而，他们是该疾病的携带者，这意味着他们可以将该基因传给他们的孩子。

Sickle cell anemia is caused by a mutation in the gene that instructs the body to produce hemoglobin, an important component in red blood cells. Hemoglobin allows blood cells to transport oxygen from the lungs throughout the body. The hemoglobin linked withsickle cell anemia causes red blood cells to become rigid, sticky, and wrinkled. Individuals who havesickle cell anemia must inherit the condition from both parents. The sickle cell trait is present inindividuals who receive the mutant gene from one biological parent.Despite the possibility of somesickle cells in their blood, individuals usually don't exhibit any symptoms. They are, however, carriersof the condition, which means they can pass the gene on to their children.

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  如何检测？

血液测试可以检测出导致镰状细胞性贫血症的血红蛋白种类。具体来说就是血红蛋白电泳或高效液相色谱法。这种血液测试是美国新生儿筛查的一个标准组成部分。成人和较大的儿童也可以进行测试。成人的血液是从手臂静脉中获取的。而新生儿的样本通常从脚跟或手指尖取。

A blood test can detect the kind of hemoglobin responsible for sickle cell anemia.Specifically known as hemoglobin electrophoresis or high-performance liquid chromatography.This blood test is a standard component of newborn screening in the United States. Adults andolder children can also be tested. Adults have their blood obtained from an arm vein. While thesample in newborns is often taken from the heel or tip of the finger.

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治疗方法

镰状细胞性贫血症是一种慢性疾病。目前，治愈镰状细胞病的唯一方法是骨髓和血液移植，但有一些有效的治疗方法可以减轻症状并延长寿命。治疗的主要目标是减少不适，治疗症状，并防止病情加重。药物治疗和输血是可能的治疗方法的例子。这些药物可能包括羟基脲、伏格列净、L-谷氨酰胺和克唑仑单抗。干细胞移植有可能会治愈某些儿童和青少年的疾病。

Sickle cell disease is a chronic condition. Currently, the only cure for sickle cell disease isa bone marrow and blood transplant, but there are efficient therapies that can lessen symptomsand increase lifespan. The main goals of the treatment are to reduce discomfort, treat symptoms,and prevent exacerbation. Medication and blood transfusions are examples of possible treatments.These medicines may include hydroxyurea,voxelator,L-glutamine,and crizanlizumab.A stem celltransplant could potentially cure the illness in certain kids and teenagers.

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