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[Sickle cell disease].

L Distelmaier1,2, U Dührsen3, R Dickerhoff4

  • 1Klinik für Innere Medizin - Hämatologie, Onkologie und Palliativmedizin, Vivantes Klinikum Neukölln, Rudower Str. 48, 12351, Berlin, Deutschland. laura.distelmaier@uk-essen.de.

Der Internist
|June 18, 2020
PubMed
Summary
This summary is machine-generated.

Sickle cell disease is a group of genetic blood disorders characterized by sickle hemoglobin. This condition causes red blood cell damage, leading to pain, anemia, and organ damage, with new treatments like gene therapy emerging.

Keywords:
Acute chest syndromeGenetic therapyHemoglobin, sickleHydroxycarbamideβ‑Globins

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Area of Science:

  • Hematology
  • Genetics
  • Vascular Biology

Background:

  • Sickle cell disease (SCD) encompasses genetic blood disorders stemming from sickle hemoglobin (HbS).
  • SCD is prevalent in sub-Saharan Africa, the Middle East, India, and the Americas.
  • Pathophysiology involves deoxygenated HbS polymerization, altering red blood cell shape and function.

Purpose of the Study:

  • To provide an overview of sickle cell disease, including its genetic basis, geographic distribution, and clinical manifestations.
  • To highlight the complications associated with sickle cell disease and the importance of genotype-specific awareness.
  • To discuss current and emerging therapeutic strategies for managing sickle cell disease.

Main Methods:

  • Literature review of sickle cell disease pathophysiology, epidemiology, and treatment.
  • Analysis of the impact of sickle hemoglobin polymerization on erythrocyte deformability and vascular obstruction.
  • Examination of clinical outcomes and complications across different sickle cell disease genotypes.

Main Results:

  • Sickle hemoglobin polymerization causes rigid, deoxygenated red blood cells that obstruct blood flow.
  • Clinical manifestations include acute pain episodes, hemolytic anemia, and progressive organ damage.
  • Treatment with hydroxycarbamide has demonstrated efficacy in reducing morbidity and mortality.

Conclusions:

  • Sickle cell disease presents with diverse complications influenced by genotype.
  • Understanding disease specifics is crucial for effective patient management.
  • Ongoing research into novel drugs and gene therapy offers promising future treatment avenues.