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General

Authors: Dr. Dharmendra Shah, Dr. Jay Upadhyay, Dr. Mohammad Abbas Khan

Abstract

Thalassemia is one of the most common genetic disorders worldwide and presents a major public health problem and social challenge in parts where the frequency is high. It is a kind of chronic inherited microcytic anaemia characterized by defective haemoglobin synthesis and ineffective erythropoiesis. Beta thalassemia patients present with a a unique facial appearance and specific craniofacial, jaw and dental patterns.Dental specialist should be aware of the nature and course of the disease and its implication on dental care and treatment.In this article, a case of a patient with Beta thalassemia major with an unerupted inverted mesiodens with clinical and radiological findings has been presented.

INTRODUCTION

Thalassemia was described in 1927 by Cooley et al., is a kind of severe anemia associated with splenomegaly and bone abnormalities.1

Thalassemia diseases are a heterogenous group of inherited anaemia caused by mutations affecting haemoglobin synthesis. The haemoglobin molecule is a tetramer that is composed of two alpha and two beta chains. If one of the chains is not being made in adequate quantities, the normal amount of haemoglobin cannot be made. Furthermore, the excess globin chains accumulate within the erythrocyte, further compromising the structure and function of the cell. These abnormal erythrocytes are recognised by the spleen and selected for destruction (hemolysis), resulting in hypochromic microcytic anaemia.

The hallmark of thalassemia syndromes is a decreased (or absent) synthesis of one or more globin chains.The designated alpha and beta thalassemia refer to deficits in alpha and beta globin production ,respectively.2 As two genes code for the beta chain and four genes code for the alpha chain, the degree of clinical severity in these conditions can vary considerably. The severity depends on which specific genetic alteration is present and whether it is heterozygous or homozygous. In heterozygous state (Beta Thalassemia Minor), an adequate amount of normal haemoglobin can be made and the affected patient experiences few signs and symptoms. In the homozygous state (Beta Thalassemia Major), however, the problems are often severe or even fatal.3

Beta Thalassemia Major, historically called Cooley’s anaemia, presents usually at six months of age when adult haemoglobin has replaced fetal haemoglobin. Peripheral anaemia and increased production of defective erythrocytes leads to expansion of marrow cavities in long bones,skull bones, facial bones and ribs, leading to classical facial features described as “chipmunk” facies or “rodent” facies ,which include prominence of cheek bone ,protrusion of premaxilla with increased overjet, saddle nose and frontal bossing.4-6

Classical radiographic findings include widening of diploic spaces in skull with cortical thinning, expansion of jaws with generalised rarefraction of alveolar bone, thinning of cortical borders and a “chicken wire” appearance of enlarged marrow spaces and coarse trabeculation. In some cases, the lamina dura may be thin, the roots of the teeth short, and the premaxilla prominent. The skull radiograph shows a generalised granular appearance and occasionally a hair on end appearance may develop due to complete erosion of cortex leaving only periosteum.47

CASE REPORT

A 13 year old male came to Department of Oral Diagnosis at Siddhpur Dental College, seeking an Orthodontic solution to severe esthetic and functional disorders.

His medical history revealed that he is a known case of Beta thalassemia major,which was diagnosed at the 5 months of age when his parents noted pallorand on further haematologic examination, his HgB was 5.9gm/dL .He is being haematologically treated with blood transfusions in intervals of 3 weeks since 5 months of age.Patient has not undergone splenectomy. Parents couldnot be traced for detailed family history and he is their only child.

He had a preterm normal delivery with birth weight of 2.5kg to non-consanguineous parents with no immediate post natal complications.

On general examination, he was underbuilt with short stature, with evident icterus in the eyes (Fig1A). Extra-oral examination revealedskeletal class II relationship with maxillary protrusion and a severe convex facial profile ,grossly incompetent lips, vertical maxillary excess with excessive incisor display at rest, prominent premaxilla and malar prominence; characteristics which correlate to classic “chipmunk facies” described in patients with thallasemia major. However frontal bossing and saddle nose were not evident on clinical examination.(Fig 1A an B)

Intraoral examination revealed Angle class-I molar relation on right side and class- II molar relationship on left side with deep overbite of 7mm and 100 percent overlapping of lower incisors. There was proclination of maxillary anterior teeth with yellowish discolouration.(Fig 1 C,D&E)

RADIOGRAPHIC FINDINGS

Lateral cephalogram revealed generalized granular appearance of skull with significant widening of diploic spaces.(Fig-2)

Examination of OPG revealed no abnormal findings which might be suspected in case of thalassemia such as enlarged marrow spaces or thinning of cortical plates. A faint shadow of tooth like structure was observed between maxillary incisors.(Fig-3)

CBCT of maxilla confirmed that there was no expansion of marrow spaces or thinning of cortical plates which can be attributed to timely diagnosis and regular blood transfusion treatment that patient has received. Also the tooth like structure revealed on OPG was confirmed to be an inverted mesiodens located just below floor of the nose. No other abnormality was noted (Fig-4).

Figure-1: A: “Chipmunk” facies with icterus in eyes B: Convex facial profile with prominent pre-maxilla C,D,E: Increased overjet and overbite with incisor proclination
 
Figure:2: LateralCephalogram showing widened diploic spaces in skull with thin cortex and generalised granular trabecular appearance
 
Figure:3: OPG showing midline radio-opague shadow of tooth like structure between central incisors.
 
Figure:4: A:CBCT image showing presence of inverted mesiodens close to nasal floor, B: Coronal CBCT slice of maxilla showing normal bone morphology instead of characteristic thinning of cortex and widening of trabecular spaces.

DISCUSSION

Thalassemia haemoglobinopathies are relatively common and produce a wide variety of signs and symptoms in the patient who inherit the disease. The dentist should be aware of the possible oral manifestations of the condition and also possible complications of dental interventions in such patients.. Dental management of a thalassemic patient requires special concern as this patient could be a heart patient, a diabetic, a spleenectomised or a patient with compromised immunity and liver function as a result of complications associated with thalassemia.

Before beginning the treatment, the following should be ascertained:
  1. Type of Thallasemia
  2. Presenthaemoglobin level of the patient
  3. Degree of iron overload in the body
  4. Relative organ involvement with iron
  5. Chelators administered to the patient
  6. Presence or absence of splenomegaly
  7. History of splenectomy
  8. Overall patient prognosis and life expectancy

Patients with Thalassemia major usually have serial blood transfusions every two weeks. They also can be expected to be on chelator therapy for iron overload resulting from chronic blood transfusion.

The common oral complaints of such patients are orofacial deformities and malocclusion. As these patients commonly develop skeletal classII malocclusion, it is recommended that orthodontic treatment be inititated as early as possible to lessen the effects of this syndrome. In thalassemics, preventive and interceptive orthodontics takes precedent over therapeutic orthodontics. Orthodontic forces should be kept low as cortical plates are thin and patient should be closely monitored with short intervals between appointments. Maxillary osteotomy for repositioning of the maxilla can also be done to improve esthetic outcome. Any invasive procedure in these patients should be done immediately after transfusion following mandatory antibiotic prophylaxis and coagulation profile. Hb level should be more than 10 mg% before any surgical procedure. Evaluation of serum ferritin level is mandatory to check for iron overload. Complex surgical treatment are contraindicated in patients with thalassemia major if blood transfusion and chelator therapy have shown to be less effective.8,9

Role of dentists in such patients is to provide highest level of care based on proper diagnosis and treatment planning that considers both the systemic and oral conditions.

REFERENCES
  1. Cooley TB, Witwer ER, Lee P. Anemia in children with splenomegaly and peculiar changes in the bones. Am J Dis Child 1927;34:347
  2. Einy S. Orthodontic considerations in patients with Beta-Thalassemia Major. JCPD 2016;40:241-46
  3. Neville B, Damm D,Allen C, Bouquot J. Haematological Disorders.Oral and Maxillofacial Pathology,3rd Edition:Saunders2008;503-4)
  4. White, Stuart C, and M J. Pharoah. Oral Radiology: Principles and Interpretation,3rd edition. St. Louis, Mo: Mosby/Elsevier, 2009;pg 533-34
  5. AlDallal S, Alkathemi M. Oro Dental Considerations in Thalassemia patients.Journal of Haematology and Blood disorders,2016: 2;2-6
  6. Kharsa MA. Orthodontic characteristics of thalassemic patients: Orthodontic cyber journal 2008 at orthocj.com on 9th Oct 2013
  7. Margot L, Langlais R. The Thalassemias: Oral Manifestations and complications.OralSurg.OralMed,Oral Pathol,1986:62;229-233
  8. T.NagarajN.Umashree et al. Beta Thalassemia Major: A case report. JIOH 2011,5:67-73
  9. Madhok S,Madhok S. Dental considerations in thalassemic patients.IOSR-JMDS,2014:13-6;57-62