Sickle cell disease

被引：0

作者：

Distelmaier, L. ^{[1
,2
]}

Duehrsen, U. ^{[2
]}

Dickerhoff, R.

机构：

[1] Vivantes Klinikum Neukolln, Klin Innere Med Hamatol Onkol & Palliat Med, Rudower Str 48, D-12351 Berlin, Germany

[2] Univ Klinikum Essen, Klin Hamatol, Essen, Germany

来源：

INTERNIST | 2020年 / 61卷 / 07期

关键词：

Hemoglobin; sickle; beta-Globins; Hydroxycarbamide; Acute chest syndrome; Genetic therapy; HEMOLYTIC TRANSFUSION REACTION; MANAGEMENT; STROKE; HEMOGLOBINOPATHIES; GUIDELINES; RISK;

D O I：

10.1007/s00108-020-00822-z

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The term "sickle cell disease" covers a group of genetic blood disorders caused by sickle hemoglobin (HbS) alone or in combination with other variants of the beta-globin locus. Sickle cell disease occurs frequently in sub-Saharan Africa, but is also common in Turkey, Greece, Sicily, the Middle East, India, and the Americas. Polymerization of deoxygenated sickle hemoglobin leads to decreased deformability of red blood cells. These altered erythrocytes can obstruct small blood vessels and cause acute episodes of pain, hemolytic anemia, and organ damage. Complications can vary between the different genotypes and it is important to be aware of the special features of the disease. Hydroxycarbamide has been shown to reduce the morbidity and mortality of patients with sickle cell disease. New drugs and novel treatment approaches such as gene therapy are currently being tested.

引用

页码：754 / 758

页数：5

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