Digital Morphometry of Craniofacial Abnormalities in Non Transfusion Dependent β-Thalassemia

Morbidities in patients with Transfusion dependent thalassemia (TDT) have received more attention in the past years than those in patients with Non Transfusion Dependent β-Thalassemias (NTDT). Both the disease categories are widely prevalent in our country. Many NTDT patients present at a later age and it has been found that age at disease presentation correlates with disease severity. Significant proportion of NTDT patients show craniofacial deformity and also suffer from complications related to iron overload. There is scarcity of data on quantitative dimensions of the craniofacial anatomy in this group of patients, more so from the eastern part of the country. Objectives of the study are to obtain quantitative measurements of the craniofacial anatomy by digital means in NTDT patients and compare with control. In addition, to determine relationship of craniofacial defects with both increasing serum ferritin (SF) and age at presentation in these patients. Forty five NTDT patients (22 males and 23 females), between age 15 and 40 years were studied over a period of four months along with 32 age and sex matched controls. Using a standard protocol, digital photographs were taken and measurements done using photoshop software. Analysis of 15 craniofacial parameters of upper, middle and lower parts of face was done and compared with control. Relationships of the SF levels and age at presentation with each of these parameters were also studied. Majority (38/45) of the patients have E/β thalassemia. The mean age at presentation for both the sexes was 11.1 ± 9.1 years. The mean value of the average SF level for both the sexes was 1359.6 ± 1661.1 µg/L. Significant differences compared to control were noted in upper and lower parts of face of male patients. This is in contrast to female patients who displayed defects in all upper, middle and lower parts of face. The middle and upper facial dimensions were statistically related, separately to, SF > 1000 µg/L and age at presentation of at least five years. There was no relationship with any of the facial parameters either to SF levels or age below the aforementioned values. Digital morphometry can be a useful adjunct to other modalities like radiography in order to acquire a comprehensive idea about the skeletal anatomy defects of NTDT patients. We have also shown that some of these measurements can be useful indicators of facial deformities in patients with both advancing age and iron overload.