Sickle cell disease

SCD is an autosomal recessive blood disorder caused by a genetic mutation in the beta-globin gene HBB on chromosome 11 (11p15.4). The mutation affects the protein haemoglobin (Hb), which is found in red blood cells and transports oxygen in the body. When individuals with SCD are exposed to stress, such as cold, heat, fever, dehydration or infection, their red blood cells undergo a sickling process.

Sickle-shaped red blood cells are stickier, have a shortened lifespan and accumulate more easily in blood vessels, which can stop blood flow and increases the risk of blood clots. Impaired blood circulation leads to a lack of oxygen in the affected body tissue or organ, causing acute pain crises and severe complications.

Everyone with SCD has varying degrees of anaemia (lack of blood) because their red blood cells have a much shorter life span. The first symptoms in young children include swollen hands and feet, fatigue, paleness and breathing difficulties. From around 3–6 months of age and throughout life, “pain episodes” may occur due to anaemia or blood clots in affected tissues or organs. These pain episodes can last from a few hours to several weeks and may be recurrent. Acute symptoms with pain episodes usually occur in the bones or as acute chest pain and breathing difficulties. These acute symptoms, along with an increased risk of infection and stroke caused by blood clots in the brain or spleen, can lead to life-threatening conditions.

For example, when a person with SCD has an infection, it is important to avoid heat, dehydration, cold, intense physical exertion, environments with low oxygen levels in the breathing air, physical pain, or anything else that may cause stress. In case of fever, medical care is recommended. Reduced blood flow or blood clots in the brain can affect the individual's learning ability and cognitive functions.

In most cases, treatment is lifelong and can be either symptomatic or curative. The focus is on reducing the number of pain episodes and preventing complications. Continuous preventive antibiotic treatment is given to all children under the age of 5, starting from the neonatal period. Extended vaccination coverage is recommended. Pain relief with paracetamol or ibuprofen should be given early to alleviate pain and prevent pain episodes. Daily treatment with the medication Hydroxyurea is given to increase the amount of fetal haemoglobin, which reduces the formation of sickle cells and thus the risk of complications. Regular blood transfusions are given in cases of increased stroke risk. Stem cell transplantation is a curative treatment option.

 

Delayed tooth development is common, as is a higher prevalence of bite abnormalities. Delayed growth and puberty can occur, but most often children with SCD will catch up with their peers. Tooth grinding combined with reflux can lead to rapid tooth wear. Enamel defects are also common. Pale mucous membranes and pale gums are seen in cases of anaemia. Atrophy of the tongue papillae and mouth ulcers are frequently observed.

 There is an increased risk of pulp necrosis in healthy teeth and osteomyelitis in the mandible, likely due to impaired blood circulation. Orofacial function is usually unaffected. However, recurrent headaches, as well as other orofacial pain and sensory loss, are common due to reduced blood circulation in the head and neck region.

• Early contact with dental care services is recommended to receive information on optimal self-care and, if needed, be offered enhanced preventive dental care.
• No dental treatment should be performed during pain episodes unless the situation is considered very acute.
• Dental and bite development should be monitored. In case of abnormalities, an orthodontist should be consulted at an early stage to plan potential corrective treatment. Orthodontic treatment can be performed with caution and gentle forces.
• Pay attention to blood counts due to the risk of severe anaemia, thrombocytopenia, neutropenia or prolonged bleeding time. For invasive procedures, medical consultation and possibly blood cell counts and prophylactic antibiotics are recommended to prevent systemic infections, pain episodes and osteomyelitis.
• The patient should be monitored immediately after surgery to ensure that bleeding stops.
• Dental anxiety may lead to increased stress during dental visits and trigger a pain episode. It is important to inform the patient and consider pain relief before dental treatment.
• There is no contraindication to the use of local anaesthesia with adrenaline.
• Medical consultation is recommended before invasive procedures or the use of sedation or nitrous oxide in dental care. Note that individuals with SCD must undergo blood transfusion prior to general anaesthesia.