Extreme pain, anemia, organ damage and life-threatening infections - the list of symptoms of sickle cell disease is long. Only early detection can help.
Der Kinderarzt Dr. Stephan Lobitz hat maßgeblich dazu beigetragen, dass die Untersuchung auf die Sichelzellerkrankung in das reguläre Neugeborenenscreening in Deutschland aufgenommen wurde.
Sickle cell disease is a hereditary disease of red blood cells. If these cells are healthy, they have the shape of donuts and are very elastic. They can squeeze through the tiniest blood vessels and thus ensure the body's oxygen supply. In sickle cell disease, some blood cells become deformed. They resemble a sickle and can no longer pass through the smallest blood vessels. The blood flow is blocked and the oxygen supply is impeded. The consequences can be pain and damage to the spleen, kidneys, brain, bones and other organs. Without immediate treatment, kidney or heart failure can occur. Patients also suffer from anemia and mild jaundice. Sickle cell disease is most common in people of African American descent. Worldwide, around 400,000 children are born with the disease each year; in Germany, up to 5,000 people are affected.
To protect children from a severe course of the disease, knowledge about their illness is crucial. This is the only way parents can react quickly in acute cases and doctors can initiate targeted treatments: Depending on the severity, affected children may need pain therapies, antibiotics, blood transfusions or a stem cell transplant. Early detection and treatment can reduce the risk of mortality by up to 90 percent. Diagnosis is possible through a blood test. In many countries, it has long been part of newborn screening. However, this involves the use of equipment that German laboratories are generally not equipped with. Pediatrician and adolescent physician Dr. Stephan Lobitz, head physician at the Clinic for Pediatric Hematology and Oncology at the Gemeinschaftsklinikum Mittelrhein in Koblenz, has proven that the disease can also be diagnosed with a standard analysis method used in Germany - tandem mass spectrometry. So there is no need for additional, cost-intensive methods.
Since 2021, screening for sickle cell disease has also been an integral part of newborn screening in Germany. In the first six months after its introduction, the disease was detected in around 60 babies, reports Dr. Stephan Lobitz. After diagnosis, the children receive penicillin prophylaxis to protect them against serious infections. Dr. Stephan Lobitz: "Thanks to the combination of early detection and penicillin administration, the probability of survival for the children is now almost one hundred percent."