What are the benefits of screening for sickle cell disease in newborn babies?

Photo of a father with newborn baby

Various tests are available for newborn babies in Germany. At the end of 2020, the German Federal Joint Committee (G-BA) decided to introduce a test for sickle cell disease too, so that treatment can be started sooner in affected newborns. One study suggests that this can reduce the number of deaths in children who have sickle cell disease.

The aim of screening tests is to detect diseases sooner so that they can be treated more effectively. In Germany, special guidelines specify what is to be tested in children, and how.

A test known as the expanded newborn test is done when babies are 2 or 3 days old. A few drops of blood are taken, usually from one of their heels. The drops of blood are placed onto special filter paper to check whether the baby has been born with certain medical conditions affecting their metabolism, or immune system. If anything abnormal is detected, the baby's parents are informed immediately.

The German Federal Joint Committee (G-BA) decided that the blood should be tested for sickle cell disease too. This test is now a part of the expanded newborn test in Germany. It is paid for by statutory health insurers.

Sickle cell disease and the possible consequences

Sickle cell disease is an inherited disease where the red pigment called hemoglobin is abnormal due to changes in the genes (a genetic mutation). Because the hemoglobin is abnormal, the body doesn't get enough oxygen.

Hemoglobin is found in red blood cells and “picks up” oxygen in the lungs. The red blood cells carry oxygen around the body in the bloodstream. This is vitally important. In sickle cell disease, the abnormal hemoglobin changes the shape of the red blood cells: Instead of being round, they look a little like half moons (sickles). That's where the disease gets its name from.

Sickle cells have a shorter life than healthy red blood cells do. This leads to anemia (sickle cell anemia). Sickle cells are also less flexible, so they sometimes clog up blood vessels. The body then no longer gets enough oxygen. Body tissues and organs may become damaged as a result, which can be very painful. The pain often comes in sudden attacks. Blocked blood vessels can lead to a stroke, kidney failure or spleen damage, for example.

Other possible symptoms include severe chest pain, a cough, fever and breathing difficulties (acute chest syndrome). These symptoms can become life-threatening. If spleen damage occurs in the first few years of life, it increases the overall risk of infections and life-threatening blood poisoning (sepsis). People who have sickle cell disease are also more likely to develop another type of anemia known as aplastic anemia.

It is estimated that

  • about 200 of the roughly 800,000 babies born in Germany every year have sickle cell disease at birth and
  • about 3,000 people are currently living with the disease in Germany.

The symptoms of sickle cell disease only start appearing after around 2 months of age. The aim of tests is to detect and start treating the disease sooner. This helps to limit the effects of the disease. More than 90% of children who receive optimal treatment reach adulthood.

What can screening for sickle cell disease do?

The Institute for Quality and Efficiency in Health Care (IQWiG, Germany) looked into the advantages and disadvantages of routinely for sickle cell disease in all newborn babies: What difference does it make if the disease is diagnosed and treated earlier rather than later? Do children live longer as a result?

The researchers at IQWiG found one study that allowed them to make an initial assessment. According to the study, routinely newborn babies for sickle cell disease can have advantages: It allows doctors to diagnose the disease sooner. If the earlier also leads to earlier treatment, and if other measures are taken too (e.g. the parents are taught about the disease and special precautions are taken to prevent infections), children who have sickle cell disease are more likely to survive. Parents are taught things like how to recognize early signs of an acute complication, and are advised to check the size of their child’s spleen every day, for instance. The study didn't allow any conclusions to be drawn about the effects of on the children’s health-related quality of life or symptoms such as pain, exhaustion, developmental delay and organ damage.

Gemeinsamer Bundesausschuss (G-BA). Richtlinie des Gemeinsamen Bundesausschusses über die Früherkennung von Krankheiten bei Kindern (Kinder-Richtlinie). October 19, 2017.

GPOH-Konsortium. Sichelzellkrankheit (S2k-Leitlinie). AWMF-Registernr.: 025-016. December 2014.

Institute for Quality and Efficiency in Health Care (IQWiG, Germany). Newborn screening for sickle cell disease: Final report; Commission S18-01. July 25, 2019. (IQWiG reports; Volume 797).

Statistisches Bundesamt (Destatis). Births: Live births and difference to the previous year. July 13, 2020.

IQWiG health information is written with the aim of helping people understand the advantages and disadvantages of the main treatment options and health care services.

Because IQWiG is a German institute, some of the information provided here is specific to the German health care system. The suitability of any of the described options in an individual case can be determined by talking to a doctor. informedhealth.org can provide support for talks with doctors and other medical professionals, but cannot replace them. We do not offer individual consultations.

Our information is based on the results of good-quality studies. It is written by a team of health care professionals, scientists and editors, and reviewed by external experts. You can find a detailed description of how our health information is produced and updated in our methods.

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Updated on February 25, 2021

Next planned update: 2022


Institute for Quality and Efficiency in Health Care (IQWiG, Germany)

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