Sickle Cell Matters

September, Sickle Cell Awareness Month

Sickle cell disease (SCD) is one of the most common inherited blood disorders worldwide. The global prevalence of SCD has been reported to be 112 per 100,000 live births, with the highest birth prevalence being in Africa – 1,125 per 100,000 births compared with 43 per 100,000 births in Europe1. As an autosomal recessive disorder, a child with SCD is born to two parents who are asymptomatic carriers of a sickle cell mutation (genetic change). The hallmark trait of the disease is the crescent moon shape of the red blood cells (RBCs), also known as ‘sickle’, which gives the disease its name.

The rigid shape of the RBCs is due to abnormal hemoglobin. Hemoglobin is a protein carried by the RBCs whose function is to transport oxygen throughout the body. Hemoglobin also carries iron – whose interaction with oxygen is the cause of the red color of the RBCs. Hemoglobin is made up of 2 α-protein and 2 β-protein subunits that is expressed by the HBB gene. When mutations occur in the HBB gene, hemoglobin’s function is altered. The different forms and varying severity of SCD depend on the mutation and whether one or both of β-globin chains are affected.

The complications of SCD are caused by the abnormal shape of RBCs. Normally, RBCs are round and flexible, able to move easily through the blood vessels and deliver oxygen and nutrients to the body. The sickled RBCs are misshapen and sticky. Their shape causes them to get stuck in small blood vessels, restricting the flow of other cells and slowing or blocking the transport of oxygen to the body – causing anemia. This causes painful episodes, termed ‘crises’, which deprive tissues and organs of oxygen and nutrients and can overtime lead to organ damage2,3. The intensity and the length of these crises varies. Some patients suffer from chronic pain due to bone and joint damage caused by the disease. The organs that are most affected are the lungs, kidneys, spleen and brain. If RBCs get stuck to the tiny blood vessels that supply the eyes, they could damage the retina leading to vision problems2,3. The blockage of blood vessels by sickled RBCs can also cause stroke, pulmonary hypotension, heart failure and even death2,3,4. Individuals with RBC are also in danger of frequent and severe infections, as the organs that help fight infections – like the spleen – are damaged and may need to be removed. Sickled cells break apart easily and die faster than healthy RBCs. Instead of the normal lifespan of 120 days, sickled RBCs only live 10-20 days3. Shortage of RBCs can cause acute chest syndrome due to low oxygen levels, and delay growth during puberty.

The only cure for SCD is a bone marrow transplant, which is a very risky procedure that is only available to people under 16 years of age due to the many complications, including death. Current treatment focuses at avoiding crises, reducing pain, relieving symptoms and preventing complications caused by the disease. Patients with SCD receive frequent blood transfusions where only the RBCs are donated to increase the number of healthy RBCs in their circulation. Iron chelation therapy may be needed to reduce the iron buildup from the blood transfusions as it is hurtful for the heart, liver and other organs. Antibiotics like penicillin can help fight infections and are especially important when the spleen has been removed. Hydroxyurea, a medication also used in cervical cancer and leukemia, can stimulate fetal hemoglobin production which prevents formation of sickle cells. It may reduce the frequency of painful crises or the need for frequent blood transfusions, but it could increase infection risk3. Experimental treatments like gene therapy, nitric oxide gas to help keep the blood vessels open and drugs to boost fetal hemoglobin are being examined. People with SCD can benefit from having a healthy diet, taking folic acid supplements which help the bone marrow make new RBCs, drinking plenty of water, avoiding temperature extremes and exercising regularly – without overdoing it. Carriers of sickle cell – sickle cell trait – rarely have any complications of SCD, but they may be more likely to experience heat stroke and muscle breakdown when doing intensive exercise.

Approximately 5% of the world’s population is a carrier of hemoglobinopathies, which include SCD and thalassemia5. Due to the high frequency and severity of SCD, many countries like the Unites States of America, United Kingdom, France, the Netherlands, Spain and Malta have national newborn screening programs to detect the disease early through a simple blood test6. SCD is also included in many carrier screening panels so that couples or individuals can get informed on their genetic status and reproductive options. Non-invasive prenatal testing (NIPT) for SCD is also available, with subsequent invasive procedures like chorionic villus sampling (CVS) or amniocentesis recommended to confirm disease presence in case of a positive NIPT result. Early diagnosis and treatment of SCD is important for the prevention of SCD-related complications.

Today, the vast majority of SCD patients live well into adulthood in developed countries. In resource-poor countries, over 90% of children with SCD do not survive past childhood.7 Globally, a 30% growth in the number of people with SCD is expected by 20507. Education, support and awareness on SCD can be effective tools in reducing mortality and promoting the finding of a cure.

VERAgene NIPT, offered by NIPD Genetics, can detect sickle cell disease, along with 49 other monogenic disorders, 8 chromosomal aneuploidies and 4 microdeletions from the 10th week of pregnancy. To learn more please visit www.nipd.com. NIPT results, possible next steps and clinical management should always be fully discussed with your healthcare provider.

References:

  1. Wastnedge E. et al. (2018), ‘The global burden of sickle cell disease in children under 5 years of age: a systematic review and meta-analysis’. Journal of global health; 8(2): 021103
  2. American Society of Hematology (2019), https://hematology.org/
  3. Mayo Clinic (1998-2019), https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/symptoms-causes/syc-20355876
  4. Genetics Home Reference (2019), https://ghr.nlm.nih.gov/condition/sickle-cell-disease
  5. World Health Organization, Regional Office for Africa (2015), https://www.afro.who.int/health-topics/sickle-cell-disease
  6. Daniel Y. et al. (2019), ‘Newborn Screening for Sickle Cell Disease in Europe’. International Journal of Neonatal Screening, 5,15
  7. Sickle Cell Disease Coalition, Understanding the Impact of Sickle Cell Disease Infographic (2017), http://www.scdcoalition.org/sickle-cell-disease.html


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