• Der Internist · Jul 2020

    Review

    [Sickle cell disease].

    • L Distelmaier, U Dührsen, and R Dickerhoff.
    • Klinik für Innere Medizin - Hämatologie, Onkologie und Palliativmedizin, Vivantes Klinikum Neukölln, Rudower Str. 48, 12351, Berlin, Deutschland. laura.distelmaier@uk-essen.de.
    • Internist (Berl). 2020 Jul 1; 61 (7): 754-758.

    AbstractThe 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 β‑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.

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