β-Thalassemia is an inherited disease, which is common in Turkey. Genetic, racial, and environmental factors influence the clinical symptoms of this disease. Disease and, consequently, treatment processes affect the quality of life of individuals from the aspect of health (24).
It is stated that having more information about the craniofacial and oral symptoms of β-Thalassemia patients would contribute to the development of more suitable clinical, psychological, and social support programs (12, 24). There are studies reporting that some facial regions of β-Thalassemia patients differ from healthy individuals (3–5, 10, 12, 18, 19, 25–29). Girinath et al. reported that oral and maxillofacial deformations such as protrusion in maxilla and mandible, saddle-like nose, protrusion and diastema in front teeth, and frontal swelling were observed in 84% of patients. They argued that the severity of orofacial changes would increase with the decreases in blood findings and general conditions of patients and the prevalence of oral and maxillofacial change would decrease among the patients, who received blood transfusion at early ages (27).
In the present study, a total of 19 measurements were performed at 5 different craniofacial regions (cranial, orbital, nasal, orolabial, and facial) in the groups. Statistically significant difference was found between the groups in terms of 5 parameters related to the craniofacial region.
In the cranial zone; forehead width, calvarium height, anterior head height, and forehead height values of patients were significantly higher than the healthy individuals and this finding corroborates with the literature reporting the protrusion of frontal and parietal bones4,33,34. In the light of these findings, the frontal and parietal deformations reported in the literature were also shown in the present study together with the quantitative data. In intergroup comparison regarding the head circumference, no statistically significant difference was found. This finding is in corroboration with previous studies (25–31).
In the orbital zone, Intercanthal distance (en-en), Right eye width ((R)ex-en), and Left eye width ((L)ex-en) values in the patient group were found to be significantly higher in comparison to the control group (p˂0.001). Together with a more protruding frontal and parietal region, protrusive maxilla, and more flattened nasal bridge, the changes in the periorbital region affect the intercanthal distance and eye widths and cause the formation of mongoloid face structure (31,32). However, given the results achieved here, Karakaş et. al. carried out a study on 43 patients and reported that there was no significant difference between the control group and patients in terms of orbital zone measurements. From this aspect, the results achieved here are not in corroboration with those reported by Karakaş et al. (10). This incoherence is thought to originate from the number of samples and the age distributions.
Among the nasal zone, the nasal width (al-al) of the patient group was found to be larger than the control group, while the nasal length (n-sn) was found to be shorter, and these findings are in corroboration with the β-thalassemia patients’ nasal characteristics reported in literature (10, 15, 27). Although it is claimed that the effect of thalassemia on the long bones is higher, bone marrow activation and, consequently, hypertrophy in maxillary bones are observed depending on the severity of the disease. In a study examining the alteration in maxillary sinuses and sinonasal passages among children with β-thalassemia, it was reported that, when compared to the healthy control group, there were significant increases in upper, bottom, medial, anterior, lateral, and posterior maxillary bone wall thicknesses and that nasal obstruction thought to be related with the erythroid marrow activity increased in 70% of the patient group (33). It was claimed that the hypoxia arising from the anemia imposes a severe load on the respiratory muscles and leads to strong inspirations and it might cause deformations such as nostril enlargements and collapsed nasal bridge in the long term (28). Such deformations also bring sinonasal problems and affect the facial shape, pneumatization of paranasal sinuses, and volumes of osteomeatal complex and nasal cavity.
Mouth width (ch-ch) and Upper lip height (sn-stm) values of the patient group were found to be statistically significantly higher than the control group and this finding is in corroboration with the literature (10, 12, 30).
In the present study, comparing the Facial zone parameters of thalassemia patients, it was found that Lower face height (sn-gn), Mandibular height (stm-gn), Face width (zg-zg), and Mandibular width (go-go) values of the patient group were found to be higher than the control group, whereas Upper face height (n-stm) values were lower. Total face height (n-gn) values of the patient group were found to be lower than the control group but the difference was not statistically significant. These findings are in corroboration with those reported by Karakaş et al. (10).
Protrusive maxilla and retroclined mandible of these patients cause a convex profile28,29,32,36. Takriti et al. carried out a cephalometric study on 51 β-Thalassemia major patients and reported that, because of the maxillary prognathism and mandibular retrognathism, the patient group had Class II malocclusion, decreased posterior facial height, increased anterior facial height, and retardation in condylar and ramal growth (12).
The results achieved in the present study are generally in corroboration with the studies reporting that β-thalassemia major patients tend to have a vertical growth in maxillomandibular region and an increase in anterior facial height (3, 5, 12, 27, 28, 34, 35).
Among the horizontal parameters, Face width (zg-zg) and Mandibular width (go-go) values of the patient group were higher than the control group and this is believed to be because the bone marrow expansion observed especially in malar zone among these patients is also seen in the other bones in cranial zone (2, 10–12, 15).
Alhaija et al. analyzed the facial deformities among the children with β-thalassemia major diagnosis in a cephalometric study. The authors stated that, given the vertical measurements, the increase in anterior facial arose from the craniofacial tendency to vertical growth and the posterior facial height decrease was due to a condylar growth deficiency arising from the anemia among the thalassemia patients (3).
Amini et al. carried out a study on cephalometric and soft tissue profiles of children having β-thalassemia major and reported that anemia causes overgrowth of the maxilla and also a delay in condylar and ramal growth in the mandible (5).
Comparing the β-thalassemia patients by gender, previous studies reported that, when compared to women, it caused deformations more among men (3, 5, 12, 15, 27, 30, 34). Again, in a study carried out by Roussos et al., it was reported that malar bone was less protruding but frontal zone was more protruding among men in comparison to women (36). In the present study, comparing the Cranial zone parameters during the intragroup analyses of women and men having β-Thalassemia, it was determined that Forehead width (ft-ft) values of men were lower than those of women. Forehead height 1 (tr-gl) values of women were found to be higher in comparison to men. In the Orbital zone, Right eye width (R)ex-en values of women were found to be lower. Among the Orolabial zone parameters, Upper lip height (sn-stm) was found to be higher among men. There was no statistically significant difference between men and women in terms of any other craniofacial assessment parameters (p˃0.05) (Table 5). In literature, it was reported that, depending on the severity of female and male β-thalassemia major patients, more deformities were observed among men when compared to women. In their study, Arab-Zozani et al. reported that short stature and growth retardation were seen more frequently among men in comparison to women and this was thought to be possibly because women could tolerate iron toxicity due to chronic oxidative stress (36–39). Women have lower sensitivity to chronic oxidative stress and it is claimed that they could better tolerate the iron toxicity in the long term (40).
The monocentric character of this study is a limitation. However, it is important since it was carried out in a place with a high β-thalassemia major population and there are few anthropometric studies on those patient groups.
The timing of diagnosis and treatment of β-thalassemia major patients is crucial. Anemic children require routine and repetitive blood transfusions to survive. Besides that, bone deformity, hepatomegaly, and splenomegaly continue to a certain extent and, even though the growth retardation can be potentially prevented via transfusions, it cannot be corrected15. In many studies, it was emphasized that the bone marrow expansion as a result of the anemia caused hyperplasia in craniofacial bones and long bones (3, 5, 12, 15, 28–30, 34).
In thalassemia, the genetic, racial, and environmental factors influence the clinical symptoms and pose a significant difficulty for the quality of life of patient children from the aspect of their health. We believe that having more information about the craniofacial and oral symptoms of thalassemia patients would be necessary for developing more suitable clinical, psychological, and social support programs.