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Sickle Cell Disease

Sickle cell disease is a common genetic disorder. Next weeks we'll discuss the disease and its implications for anesthesia. Today we'll discuss the basics of the disorder.

1.  What is sickle cell disease?
2.  Is there a difference between sickle cell disorder, disease and anemia?
3.  How common are sickle cell disorders?
4.  What is the impact of these disorders?

镰状细胞病

镰状细胞病是一种常见的遗传病。最近几周我们将讨论本病及此类患者的麻醉。本周讨论该病的基础。

1、  何谓镰状细胞病？
2、  镰状细胞紊乱、镰状细胞病和镰状细胞性贫血之间有何差异？
3、  镰状细胞紊乱的共同点？
4、  这些紊乱的影响？

参考答案：

1、  何谓镰状细胞病？

镰状细胞病是一种遗传性血红蛋白分子功能紊乱疾患，当血红蛋白分子暴露在各种环境中（以后将讨论），红细胞血红蛋白发生聚合，扭曲变形成镰状。这种变形允许红细胞从细胞间通过，导致下游组织营养受损[1]。

2、  镰状细胞紊乱、镰状细胞病和镰状细胞性贫血之间有何差异？

表面上这几个命名差异很小，但根据患者最终结果不同差异很大。

镰状细胞紊乱代表所有的镰状遗传基因的状况。其可通过镰状细胞标本阳性得到确诊，而无须考虑病史。

镰状细胞病是一类高死亡率的镰状细胞紊乱，如血管阻塞性疼痛危象（VPC）或器官功能紊乱。

镰状细胞性贫血是指血红蛋白S为纯合子的患者（如血红蛋白SS）。

3、  镰状细胞紊乱的共同点？

镰状细胞紊乱在国际上流行甚广，主要集中于非洲、地中海、中东和东南亚[3]。在美国，美籍非洲人血红蛋白S和C的携带率分别为7.8%和2.3%，β地中海贫血的携带率为0.8%。

4、  这些紊乱的影响？

后边我们将讨论这些紊乱的临床表现，但是，在美国1996年大约有75，000名患者因镰状细胞病而住院，平均住院天数为6天麻花费6，300美元，因紧急救治花费总共约475百万美元[4]。此外，长期护理和因此带来的影响是巨大的。

What is sickle cell disease?

Sickle cell disease is a group of inherited disorders of the hemoglobin molecule which, when exposed to various conditions (to be discussed later this week), cause the red blood cell hemoglobin to polymerize and distort the cell into a sickle shape. This distortion allows the red blood cells to metamorphose from cells that nourish to "obstacles that starve and damage downstream tissues" (1).

Is there a difference between sickle cell disorder, disease and anemia?

These seemingly small differences in nomenclature (2) have pronounced implications in regards to patient outcomes.

•  Sickle cell disorder represents all states in which a sickle gene is inherited. These disorders are confirmed by a positive sickle preparation and this label is applied to the person, regardless of the symptomology experienced.

•  Sickle cell disease is any sickle cell disorder in which significant morbidity occurs, such as vaso-occlusive pain crisis (VPC) or organ dysfunction.

•  Sickle cell anemia represents patients who are homozygous for hemoglobin S (i.e. Hemoglobin SS).

How common are sickle cell disorders?

Sickle cell disorders affect a significant international population, primarily of African descent, but also Mediterranean, Middle Eastern, and South East Asian populations (3). In the United States, hemoglobin S and C traits are carried by 7.8% and 2.3% of African Americans, respectively, and 0.8% carry the beta-thalassemia trait (2).

What is the impact of these disorders?

Later this week, we'll discuss the clinical implications of the disorders. However, in terms of economic impact, sickle cell disease accounted for 75,000 hospitalizations in the United States in 1996, averaging 6 days in length and $6,300, and totaling $475 million for acute care alone (4). In addition, long term care, and the impact of lost productivity is immense.

References:

1.  Platt OS. The Acute Chest Syndrome of Sickle Cell Disease. New Engl J Med 2000; 342: 1904-7.
2.  Behrens RJ, Cymet TC. Sickle Cell Disorders: Evaluation, Treatment, and Natural History. Hosp Phys 2000;17-28.
3.  Serjeant GR. Sickle-cell disease. Lancet 1997;350:725-30.
4.  Davis H, Moore RM, Gergen PJ. Costs of hospitalizations associated with sickle cell disease in the United States. Public Health Rep 1997;112:40-3.


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