The present essay deals with the occurrence of oral problems and diseases in persons affected by Thalassemia. First of all, the geographic occurrence and the prevalence of Thalassemia will be expounded, and the medical background will be highlighted. In addition, the phenotypic manifestations and variations associated with the disease are considered, especially against the background that they play a not inconsiderable role in orofacial problems.
For the assessment of the oral health status, several studies were evaluated, which were prepared according to established indices. Consideration in the work finds therefor on the one hand oral caries and the DMFT index used for this, which, for the sake of better comparability, is listed tabularly along with other indices.
Furthermore, both occlusal and dentofacial anomalies – such as class II malocclusion or crossbite – are investigated, as well as the leading disease factors. In both cases, for instance, a clearly higher prevalence was found in patients affected by thalassemia. Both evaluations show that thalassemia patients generally have worse oral health compared to control groups.
In the concluding discussion, the etiological factors that lead to Thalassemia will be regarded again, and the resulting consequences will be discussed, among other things, against the background of general well-being.
However, because of population changes and migration, thalassemia has expanded to Continental Europe, the North and South Americas, as well as Australia. The common orofacial conditions in thalassemia patients include, enlargement of the frontal bone (frontal bossing), skeletal deformations due to maxillary overgrowth (characteristic appearances – chipmunk faces), causing upper lip retraction, protrusion of premaxilla bone leading to malocclusion in the dentition, flaring,diastema formation,overbite and overjet, anterior open bite .
Deposition of bilirubin and anemia lead to pale or yellow color pigmentation of mucosa. High ferritin blood level can cause a dark discoloration of the gums. There are evidence reported in studies, that caries and orofacial changes in β‐thalassemia major patients significantly higher compared to healthy population. The concentration of phosphorous and IgA are lower in β‐thalassemia major patients and make them more vulnerable and prone to caries.
The aim of this work is to display special oral and maxillofacial manifestations peculiar to thalassemia. Oral health problems Dental Caries The simplest and most commonly used index in epidemiologic surveys of dental caries is the DMFT index according to WHO.
The DMFT index has the ability to quantify dental health status based on the number of carious, missing and filled teeth and assess the prevalence of dental caries. This data is summarized in Table 1 and they indicate clearly that there is a higher level of active oral infection in thalassemia patients. Many general factors, of course, might contribute to this phenomenon.
Some of them can be lack of parental awareness on the importance of prevention and regular dental follow-up, lack of appropriate use of topical fluoride and fissure sealants when it is necessary and also, long waiting lists for dental treatment. More specific factors of the higher caries level of this patients may be also the bone deformities, malocclusion, higher rate of infections and iron overload in parotid glands and dry mouth.
The higher dental caries experience in thalassemia patients is also associated with low concentrations of IgA in saliva, which could allow the increased microbial proliferation. So these factors coupled with the fact that the parents of thalassemia patients, or the patients themselves, preoccupied with the life-threatening problem neglect basic dental care, burden, even more, their oral hygiene. Also according to literature, a very low percentage (1.4%) of restored teeth is recorded among the thalassemia patients.
The lack of sufficient dental specialists needed for the comprehensive treatment of thalassemia patients may contribute to this finding. Another one factor that could affect to higher caries risk is splenectomy. The use of splenectomy declined in recent years, because of the high disease burden associated with splenectomy. However, many patients require this intervention, so as to be reduced the excessive blood consumption and consequent severe iron overload.
That’s why the relation between splenectomy and caries risk is under study. Splenectomy is associated with thalassemia patients with more than 5 caries. Although splenectomy and the higher number of caries are statistically more probable in thalassemic patients of increasing age, are not mutually correlated. So, the major reasons for the high caries index of these patients are the poor oral hygiene and the low IgA in saliva.
Also, the tooth length of thalassemic patients and the tooth-crown size are significantly smaller than non thalassemic people. All these dentofacial characteristics cause, in addition to dentofacial anomalies, also occlusal. A very common problem is the Class II malocclusion. According to the literature, the prevalence of Class II malocclusion is higher in thalassemic patients. Malocclusion is the false arrangement of teeth in three planes of space.
The malocclusion classification by Angle is based to the sagittal plane and take into account only the dental relationship, while ignores the skeletal relation. The class II malocclusion is where the molar relationship shows the buccal groove of the mandibular first molar distally positioned when in occlusion with the mesiobuccal cusp of the maxillary first molar.
Class II malocclusion is caused by the mandibular atrophy and maxillary protrusion, while the maxillary protrusion is caused by hyperplasia of the anterior maxillofacial structures. The overdevelopment of the maxilla also results in an increased overate and spacing of maxillary teeth. So, the proportion of class II malocclusion is significantly higher among patients with thalassemia when compared to the control group.
The high prevalence of Class II malocclusion is due to marrow hyperplasia occurring due to chronic anemia, resulting in maxillary prominence and also due to mandibular retrusion occurring because of generalized growth retardation in the thalassemic children. In many studies, it is observed that thalassemic patients have overbite, overjet or anterior open bite. On the one hand these findings are true, but on the other hand, the differences between these patients and the control groups are very small so as to be considered as major oral and maxillofacial problems for the thalassemia patients.
These problems of course, as other problems which may occur due to abnormal bone developments, can be minimized or prevented by the early initiation of regular blood transfusion therapy. However, the prevalence of tooth displacement and the prevalence of buccal and lingual crossbite is more in thalassemic patients. The early medical treatment although plays a significant role in reducing the clinical orofacial manifestations caused by expansion of facial bones, which results in dental malocclusions and protrusions.
In the future, the complete healing of those patients due to gene therapy may allow a normal facial appearance, without occlusal and dentofacial anomalies. Except gingivitis which is only associated with splenectomy, the most common problems are probably due to iron deposition in the tissues and thus the high ferritin levels in the blood and the decreased levels of hemoglobin. The decreased hemoglobin levels can produce mucosal pallor, a characteristic pale color on the mucous membrane of the hard palate, gingivae and the dorsum of the tongue.
On the other hand, gingival pigmentation or dark coloured gingiva is observed more frequently in thalassemia patients and specifically, in thalassemia patients with iron overload. The iron accumulation seems to affect the periodontal tissues in general. Studies show that patients with thalassemia had a significantly higher proportion of gingival pigmentation.
Due to ineffective erythropoiesis and hemolysis, the thalassemia patients require regular blood transfusions, so as to improve their chronic autosomal blood disorder. This procedure lead to iron overload in many organs in thalassemia patients. In periodontal tissues, as mentioned before, as well as the hepatic, cardiac and endocrine tissues.
Indicatively, a study conducted in Dubai in 2018 mentions that a proportion of 23.7% of thalassemia patients had gingival pigmentation compared to none in the control group. Oral hygiene status The overall oral health status of thalassemia patients can be characterized as poor when compared to the control group.
The Simplified Oral Hygiene Index Score (OHI‐S) helps researchers to assess the oral hygiene status of an individual. Based on two cross sectional studies, which they are published in 2017 and 2018, the differences between the oral hygiene index of thalassemia patients and the control groups varies. In general, the thalassemia patients have lower oral hygiene index, but with significant or no significant difference in each case.
To have more representative results the OHI‐S is combined with the calculus index and debris index. So the combination of the three indices can give the oral health status of a patient or a group. Discussion Thalassemia is one of the most common genetic disorders. It is caused by the quantitative lack or total absence of either alpha or beta globin chains, resulting in alpha- and beta-thalassemia respectively.
Not only is it common, it may also have significant consequences, causing serious medical, social and psychological problems. “While some mild forms of thalassemia might even go unnoticed and only cause mild anaemia and iron deficiency problems in patients, other more severe forms of thalassemia can even result in death”.
As life expectancy is increasing over time it has become increasingly challenging to ensure an adequate quality of life over the entire lifespan of a patient. Oral health plays a very large role in overall quality of life. As such, the dental problems that may be caused by thalassemia should be considered of great importance.
Thalassemia generally results in intense compensatory hyperplasia of the marrow as well as expansion of the marrow cavity. These are the causes for most orofacial manifestations of thalassemia. The typical thalassaemic patient has a moderate Class II skeletal discrepancy with pronounced vertical mandibular growth direction, prominent mandibular incisors, everted lips, and a narrowed nasal cavity and most of the times high caries index as well as severe gingivitis.
It is now clear that thalassemia probably represents the most common genetic disorder causing a major public health problem in the world’s population. Surprisingly, very few detailed studies on craniofacial measurements and facial deformities in thalassemic patients have been published. Orthodontic treatment, successful surgical correction and osseointegrated implant surgery of the maxilla have been reported in some cases .
Conclusions and Recommendations
The increased susceptibility of Thalassemia patients to oral problems presents enormous challenges not only for the individuals themselves but also for society. The costs arising from the treatment of oral problems burden society in particular in states and countries with publicly or jointly financed health insurances.
Also, owing to the rather frequent occurrence of the disease, the education about it should be intensified in relation to the improvement of oral hygiene. In addition, increased research in the area of prevention could be helpful. Reducing – thalassemia related – oral problems ultimately leads to fewer mental health problems, therefor lower treatment costs, and to increases overall well-boing, which can be socio-economically reflected in increased economic performance and thus should not be ignored.
Despite ethical concerns, genetic testing in individual countries has also proven extremely helpful in controlling and reducing Thalassemia and the associated problems. If these previous efforts can be increased even further, an additional reduction – or at least stagnation – of the number of Thalassemia affected persons can be expected, which therefor also applies for the dentofacial complaints. Recommendations As literature suggests, the risk of oral disease in thalassemia patients is high.
On the other hand, the life expectancy is getting higher, so a good oral health status has an important role in their life, because higher life expectancy and better quality of life should be combined. Emphasis should be given in dental education of those patients and in prevention. Childrens and adults with thalassemia have to receive regular follow-up dental treatments and check-up.