Oro-facial Features

Many oro-facial features have been described in thalassaemia, and these are summarised in Table 1. It is important that both patients and dentists are aware that if these features are present, they may be associated with the underlying thalassaemia disease process, so that appropriate management can be initiated. It is known that thalassaemia may result in changes in the bones; the extent of which depends on the severity of the anaemia, the patient’s age, duration of the clinical symptoms, and the timing of both therapeutic blood transfusion and splenectomy. When bone changes are present, the main oral change that has been reported in the literature is malformation of the facial bones due to bone marrow hyperplasia caused by rapid red cell turnover, particularly in β-thalassaemia major. The hyperplasia of bone marrow in the maxilla (upper jaw) exceeds that of the mandible, and results in a characteristic appearance known as ‘chipmunk face’ (Abu Alhaija, Hattab & al-Omari, 2002), as illustrated in Figure 1. This may be associated with spacing of the upper teeth, forward drift of the maxillary incisors and increased overjet (see Figure 2). Where there is misalignment of teeth due to maxillary expansion, orthodontic treatment or cosmetic dentistry may be required to correct alignment.

Table 1

Summary of the main oro-facial features described in thalassaemia.

Figure 1

Profile view of a 13–year-old boy with thalassaemia major showing typical facial features of thalassemia major; characterized by frontal bossing, bulging cheekbone, saddle nose, and protrusive premaxilla.

Figure 2

Cephalometric radiograph of a 15-year-old boy with thalassemia major disclosing prominent premaxilla, thickened frontal bone, thinned inferior border of the mandible and partially obliterated maxillary sinus.

The dental arch parameter characteristics of patients with β-thalassaemia major may include a narrower maxilla, a shorter maxilla and mandible, reduced ramus length and width, and smaller tooth crown size (Hattab, 2013a; Hattab & Yassin, 2011; Al-Wahadni, Qudeimat & Al-Omari, 2005; Hattab, Abu-Alhaija & Yassin, 2000).

The reduced tooth size may render the dentoalveolar bone housing the teeth to be more deficient. An increased incidence of mild Class II skeletal pattern and prominent vertical growth direction of the mandible has also been noted (Toman et al., 2011; Amini et al., 2007). These changes may have implications for orthodontic treatment. Delayed dental development with associated physical growth retardation has also been noted in patients with β-thalassaemia major (Hattab, 2013b). The caries prevalence has been found to be significantly higher in thalassaemic patients than in healthy controls (Hattab et al., 2001; Siamopoulou-Mavridou et al., 1992). The higher dental caries experience in β-thalassaemia major patients may be attributed to poor oral hygiene, improper dietary habits, lack of dental awareness, reduced salivary flow rate, and neglected dental care. In addition to the reduced salivary flow rate in β-thalassaemia major patients (Hattab et al., 2001), a lower concentration of salivary immunoglobulin A (Siamopoulou-Mavridou et al., 1992) and higher levels of salivary Strepotococcus mutans (Lugliè et al., 2002) have been described, compared with controls. Thalassaemic patients show a tendency for higher plaque rates, gingivitis and periodontitis scores than control subjects (Hattab, 2012; Mehdizadeh, Mehdizadeh & Zamani, 2008).

Changes in dental morphology have been consistently noted and include short roots, taurodonts and attenuated lamina dura. Radiographic changes (shown in Figure 2) include thickened frontal bone, thinned cortex of the mandible, small maxillary sinuses, faint inferior dental canal and enlarged marrow spaces (Hattab, 2012; Hazza’a & Al-Jamal, 2006). Iron deposition in the parotid glands can result in painful facial swelling but is rare (Hattab, 2012; Goldfarb, Nitzan & Marmary, 1983). Dental and jaw pain, pallor oral mucosa, oral ulceration and burning tongue may also be present, secondary to chronic anaemia. Necrotising stomatitis, possibly linked to agranulocytosis due to deferiprone has also been described in thalassaemia (Tewari et al., 2009).

Risk Assessment for Delivery of Dental Care

Due to the great clinical variability in systemic signs and symptoms with which patients with thalassaemia present, the most important aspect of dental care is the need to deliver it through a coordinated team approach, ensuring close liaison with the haematologist, and where appropriate the paediatrician. In order to undertake a complete risk assessment, information from the haematology team on the patient’s clinical status and recent blood test results should be accessed to ensure risk is minimised when planning dental care. The appropriate setting for provision of care should be determined, namely whether in the setting of primary or secondary (hospital-based) care.

Co-morbidities that may impact on dental care

Individuals with thalassaemia often experience multiple secondary effects from their disorder. These can impact on the delivery of dental care in a number of ways, as summarised below:

• Chronic anaemia

- In addition to the oro-facial manifestations associated with chronic anaemia, patients may appear to be fatigued, lethargic and poorly motivated. Dental care should be adapted according to their tolerance of the planned procedure on the day of treatment.

• Infections

- Infections are major complications and represent one of the main causes of morbidity in patients with thalassaemia. Patients who have undergone a splenectomy are at higher risk of significant infection following a bacteremia (Wang et al., 2003). Multiple immune abnormalities (Vento 2006), defective neutrophils, macrophage chemotaxis (Bassaris et al., 1984) and increased oral Candida albicans colonization have been noted in patients with thalassaemia. The increased infection risk should be taken into account when providing dental care.

• Depression

- Lifelong adherence to a complicated medical regimen can potentially impact on the emotional functioning of patients with thalassaemia. This can further impact patient motivation and willingness to accept dental interventions (Mednick et al., 2010).

• Transfusion-transmitted infections

- Prior to screening of blood products, people with thalassaemia were at increased risk of carriage of Hepatitis B, C, G viruses and HIV. Appropriate cross-infection protocols should be in place and precautions taken when providing care. In the case of associated hepatic disease / liver cirrhosis, caution must be used when prescribing medication. For all patients with thalassaemia receiving regular exchange transfusion, invasive dental care should be delivered in the week following a planned exchange, as the patient’s blood counts will be optimal. Invasive dental procedures should be avoided on the same day as the exchange, as the patient is often fatigued following transfusion.

• Iron overload and tissue deposition

- Iron accumulation in hepatic, cardiac and endocrine tissues is well documented for patients with thalassemia major. Dentists need to take additional precautions to compensate for potential complications such as impaired liver function and diabetes. Iron deposits have also been found in the gingivae (Calişkan et al., 2011). Incorporation of blood pigment bilirubin; a product of haemoglobin breakdown, has been described in the dentinal tubules resulting in yellow discoloration of teeth (Hattab, Qudeimat & al-Rimawi, 1999). Although the impact of iron deposits on periodontal health is unknown, further studies investigating the use of gingival biopsies for diagnosis of iron overload are needed.

• Cardiomyopathy

- Chronic anaemia can result in cardiomyopathy and is further exacerbated by cardiac iron overload. Although patients may be asymptomatic with their cardiac dysfunction, when anxious and / or undergoing a stressful dental procedure, they may precipitate their cardiac symptoms. Dentists need to be aware of the degree of cardiac involvement and implement precautions as appropriate.

• Bisphosphonate-related complications

- Bisphosphonates are commonly used in thalassaemia patients to stabilise bone remodelling. However, in recent years there have been an increasing number of cases of bisphosphonate (BP)-related osteonecrosis of the jaw (BRONJ). This is characterised by trans-mucosal exposure of necrotic bone, often triggered by surgical trauma such as dental extractions (see Figure 3). There is currently no clear evidence for the efficacy of any intervention to manage BRONJ (Fedele et al., 2009). In view of this, dental extractions are avoided where at all possible.

Figure 3

Area of BRONJ: Exposed bone 3 months after dental extraction of a lower left molar.

Practical Management

Patients with β-thalassaemia major are at increased risk of developing dental caries and periodontal disease. Furthermore, there may be increased risk when delivering invasive dental treatment due to the multiple potential co-morbidities that are associated with thalassaemia. In view of this, patients should be maintained closely on a preventive programme with regular follow-up. Oral hygiene instructions, dietary advice and preventive measures including prophylaxis, fluoride application, and fissure sealants should be implemented to minimize the need for invasive dental procedures. Dentists also need to be aware of the oro-facial manifestations of thalassaemia so that they can be identified early and appropriately managed. Close liaison with the haematology team is required to determine the potential complications when delivering invasive dental treatment and measures put in place to reduce risk. The severity of the thalassemia, the degree of anaemia - as determined by recent blood test results, and the extent of multi-system involvement / co-morbidities should be established so that risk can be reduced and care provided in the appropriate setting.

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