-Thalassaemia intermedia masquerading as -thalassaemia major
نویسندگان
چکیده
منابع مشابه
β-Thalassaemia intermedia masquerading as β-thalassaemia major.
To cite: Singh A, Varma S. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2014-207637 DESCRIPTION A 19-year-old man presented with dysmorphic facies, progressive fatigability and exertional breathlessness from the age of 15 years. On examination the patient had classical ‘Chipmunk facies’ (figure 1), short stature, delayed puberty and mild splenomegaly. X-ray of...
متن کاملThalassaemia Intermedia: an Update
Our understanding of the molecular and pathophysiological mechanisms underlying the disease process in patients with thalassaemia intermedia (TI) has substantially increased over the past decade. TI encompasses a wide clinical spectrum of beta-thalassaemia phenotypes. Some TI patients are asymptomatic until adult life, whereas others are symptomatic from as young as 2 years of age. A number of ...
متن کاملModern treatment of thalassaemia intermedia.
The term thalassaemia intermedia includes a large spectrum of conditions of varying severity. Blood transfusion and chelation are necessary in some patients, especially during childhood, in order to promote growth and prevent bone deformities. Alloimunisation, however, is frequent and can be difficult to control. Splenectomy is usually needed at some time because of hypersplenism and mechanical...
متن کاملIron overload in Beta thalassaemia major and intermedia patients.
ABSTRACT BACKGROUND In beta thalassaemia major multiple blood transfusions, ineffective erythropoiesis and increased gastrointestinal iron absorption lead to iron overload in the body. Iron overload impairs the immune system, placing patients at greater risk of infection and illness. Iron overload can be determined by serum ferritin measurement. OBJECTIVE The aim of the present study is to...
متن کاملEndocrinopathy in thalassaemia major.
Pituitary, adrenal, and pancreatic functions were investigated in 9 patients with thalassaemia major. 9 a.m. plasma ACTH values were 148-480 pg/ml (normal range 15-70 pg/ml). Cortisol and growth hormone response to insulin-induced hypoglycaemia was normal in all. 24-hour urinary excretions of 17-ketosteroids and 17-hydroxycorticosteroids were normal. There was normal cortisol response to intram...
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ژورنال
عنوان ژورنال: Case Reports
سال: 2014
ISSN: 1757-790X
DOI: 10.1136/bcr-2014-207637