ESPE Abstracts

Introduction: Thalassemia is an autosomal recessive inherited disease that requires frequent blood transfusion. The life expectancy of thalassaemic children improved with regular blood transfusion and chelating agents. Hemosiderin precipitation in endocrine glands of patient with Transfusion Dependant Thalassaemia (TDT) leads to progressive gland dysfunction. The adrenal insufficiency is one of the complications that results from iron deposition either in the ...

Hutchison-Gilford progeria syndrome (HGPS) is a rare genetic disorder which is characterized by aging fast in affected individuals. The prevalence of HGPS is around of 1 in 20 million approximately. The exact etiology is not very well known, However it is believed to be an autosomal dominant disorder that occurs due to point mutations in lamin A (LMNA) gene. In this case report we share the challenges of being the first presented case in Oman. A 6 years old Omani boy diagnosed...