In sickle cell disease (sickle cell anemia) (sickle cell disease, SCD; synonyms: African anemia; anemia due to sickle cell disease; drepanocytic anemia; drepanocytic anemia; drepanocytosis; elliptocytosis due to sickle cell disease; AS-genotype hemoglobin; Hb-AS inheritance; HbS [sickle cell hemoglobin] disease; Hb-SC disease; Hb-SD disease; Hb-SE disease; Hb-S inherited disorder; Hb-SS disease with crises; Herrick syndrome; meniscocyte anemia; sickle cell anemia; sickle cell hemoglobinopathy; sickle cell anemia. Sickle cell anemia is a genetic disorder of the erythrocytes (red blood cells) that leads to anemia. It is the most common hemoglobinopathy (diseases caused by abnormalities of the oxygen transport protein hemoglobin) and is considered a multisystem disease (see secondary diseases or complications).
One can distinguish the following forms according to the ICD-10:
- Sickle cell anemia with crises (ICD-10 D57.0).
- Sickle cell anemia without crises (D57.1)
- Double heterozygous sickle cell disease (D57.2).
- Sickle cell inherited disease (D57.3)
- Other sickle cell disease (D57.8)
Sickle cell disease (sickle cell anemia) is a genetic disease that is inherited in an autosomal recessive manner.
There is a high prevalence (disease frequency) throughout the “malaria belt”, i.e. in West Africa (about two-thirds of cases) and from the Mediterranean to Southeast Asia and parts of North and South America. This is explained by the fact that it confers resistance to malaria. The healthy carriers (Aa; carriers of the sickle cell allele) have an evolutionary advantage (called the heterozygote advantage) over those without the sickle cell allele (genotype AA), who are more likely to die from malaria. Furthermore, they also have an advantage over those with sickle cell disease (genotype aa), who die prematurely from sickle cell disease.
Sex ratio: balanced
Frequency peak: In homozygous sufferers, symptoms often appear in infancy.
Up to 40% of the population in tropical Africa are heterozygous carriers. In the black population of America, the figure is up to ten percent. In Germany, about 300 people (mostly immigrants) contract sickle cell disease every year.
Approximately 5-7 % of the world population are carriers of sickle cell disease or thalassemia mutation.
Course and prognosis: Up to 90 % of homozygous affected individuals can reach a life expectancy of up to 60 years under good therapy. Heterozygous HbS trait carriers are clinically and hematologically unaffected.
An unfavorable course is common with the following factors:
- Dactylitis – inflammation of fingers or toes.
- Hemoglobin value < 7 g/dl
- Leukocytosis – increase in the number of white blood cells.
