Genetic Disorders: Beta Thalassemia

Orofacial characteristics of β –thalassemia major patients among the UAE population

Introduction

Beta thalassemia is a genetic disorder in which the gene for the production of beta globin chain is defective. The name thalassemia is derived from a combination of two Greek words: thalassa meaning the sea, i.e. the Mediterranean, and anaemia (“weak blood”). Therefore it is also known as Mediterranean anemia. Another name for beta-thalassemia is Cooley’s anemia, named after Prof. Thomas Cooley, a pediatrician in the USA who first described the clinical characteristics of this disorder in patients of Italian origin in 1925.

There are three types of beta thalassemia: beta thalassemia major which is the most severe and patients require blood transfusions to survive, beta thalassemia intermedia in which patients have a better prognosis than the previous and beta thalassemia minor which is found in heterozygous individuals and there are no clinical manifestations.

Alpha-chain production is normal however, since these chains lack beta-chains with which to bind, an intraerythrocytic accumulation of alpha-chains results; the latter are insoluble and thus tend to precipitate, forming intracellular inclusions that deform the structure of the erythrocyte and lead to its premature destruction within the bone marrow and spleen. The result of this phenomenon is therefore ineffective erythropoiesis, which triggers an increase in erythropoietin levels with a rise in the output of erythoid cells and erythroblasts associated with bone expansion and resulting in typical facial deformities with alterations of the stomatognathic structures.

8% of UAE nationals are carriers of the B-thalassemia gene. Due to its high prevalence in the UAE, it i...

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...ble to use these characteristics for diagnosis.

Acknowledgements:

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