Thalassemia is a heterogeneous group of genetic disorder with the defective synthesis of one or more globin chains. β-thalassemia is a global disease with high prevalence in Africa, Southeast Asia and Mediterranean countries. In Malaysia, the α and β-thalassemia are the commonest. In the articles that we reviewed, transfusion-dependent β-thalassemia is highly associated with complications related to thalassemia such as cardiovascular disease, endocrine disorders, skeletal deformities and others. Following advancements in β-thalassemia major treatment, cardiovascular disease remains the leading cause of mortality in β-thalassemia major patients. Thalassemia-associated cardiac pathology includes several conditions, such as myocardial dysfunction, arrhythmias and atrial fibrillation. Endocrine disorders, caused by iron deposition in the gland, resulting in impaired endocrine function. The commonest presentation is short stature followed by impaired puberty, abnormal thyroid function and diabetes mellitus. Moreover, skeletal complications remain a challenge. The most prevalent complications are malocclusion of the teeth, frontal bossing and chipmunk facies whilst osteoporosis, osteopenia and fracture are seen in a minority of the patient. Although comprehensive care has resulted in long-term survival and good quality of life, poor management will lead to complications that increase the treatment cost. However, genetic study (DNA analysis) examines the deletions and mutations in the α and β-globin-producing genes that help to correct diagnosis and improve management in thalassemia patients.
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