Sickle Cell Disease (Sickle Cell Anemia): Test and Diagnosis

1st-order laboratory parameters-obligatory laboratory tests.

  • Small blood count
  • Differential blood count
  • Blood smear
  • Urine status (rapid test for: pH, leukocytes, nitrite, protein, blood), sediment, if necessary urine culture (pathogen detection and resistogram, that is, testing suitable antibiotics for sensitivity / resistance).
  • Hb electrophoresis (examination method in which molecule groups are spatially separated in an electric field) [detection of sickle cell hemogobin, HbS > 50 %]Note: In the case of HbS carrier, the HbS proportion is normally between 35 and 45 %. If the HbS percentage is < 35%, either iron deficiency or α-thalassemia is present. In the sub-Saharan part of Africa, approximately 30% of all people have a genetically and clinically irrelevant hetero- or homozygous α-thalassemia, which leads to microcytosis without anemia being present. Microcytosis exists when reduced red blood cells are present in the blood count (mean red cell volume (MCV): < 80 femtoliters (fl)).
  • Hb solubility test – to distinguish HbS from non-sickling pathological hemoglobins (with identical electrophoretic or chromatographic properties).
  • Liver parameters – alanine aminotransferase (ALT, GPT), aspartate aminotransferase (AST, GOT), glutamate dehydrogenase (GLDH) and gamma-glutamyl transferase (gamma-GT, GGT), alkaline phosphatase, bilirubin.
  • Renal parameters – urea, creatinine, cystatin C or creatinine clearance, if necessary.

Laboratory parameters 2nd order – depending on the results of the history, physical examination and the obligatory laboratory parameters – for differential diagnostic clarification.

  • Molecular genetic testingNote: Heterozygous HbS carrier usually has no disease value.

Family members should also be screened.

In countries with high prevalence (disease frequency), sickle cell anemia is tested as part of neonatal screening. In Germany, this is not the case.