Extreme pain, anaemia, organ damage and life-threatening infections – the list of symptoms of sickle cell disease is long. Only early detection can help. Paediatrician Dr Stephan Lobitz played a key role in ensuring that screening for sickle cell disease was included in regular newborn screening in Germany.
The Disease
Sickle cell disease is a hereditary disease of the red blood cells. If they are healthy, they are shaped like 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 impaired. The consequences can be pain and damage to the spleen, kidneys, brain, bones and other organs. Without prompt treatment, kidney or heart failure can occur. Patients also suffer from anaemia and mild jaundice. Sickle cell disease occurs mainly in people of African-American descent. Around 400,000 children are born with the disease each year worldwide, with up to 5,000 people affected in Germany.
The research
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, patients may need pain therapy, antibiotics, blood transfusions or a stem cell transplant. Early detection and treatment can reduce the mortality risk by up to 90 per cent. Diagnosis is possible with 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 not usually equipped with. Paediatrician Dr Stephan Lobitz, Head Physician at the Clinic for Paediatric Haematology and Oncology at the Gemeinschaftsklinikum Mittelrhein in Koblenz, has shown that the disease can also be diagnosed using a standard analysis method used in Germany – tandem mass spectrometry. This means that no additional, cost-intensive methods are required.
