background: thalassemia syndromes are the most prevalent single gene disorders in iran. this study aimed to evaluate the effect of different types of beta-globin gene mutations, co-inheritance of alpha-globin gene mutations and/or xmn1 snp on disease phenotype in a large cohort of iranian patients. subjects and methods: in total, 433 patients were clinically classified into β-thalassemia major ...

Patients with thalassemia intermedia have a mild anemia and survive without needing regular blood transfusions.1 Here we report two cases of Thai patients with β-thalassemia intermedia caused by homozygosity of hemoglobin Malay (Hb Malay; α2β219Asn-Ser)2 and compound heterozygosity of Hb Malay and hemoglobin E (Hb E; α2β226Glu-Lys). Both patients presented with a history of anemia with marked m...

We describe a case of a young male without stroke risk factors who presented with a sudden onset of left-sided weakness, left hand numbness, and left eye blurriness. CT scan of the head without contrast and diffusion-weighted MRI of the brain with contrast revealed an ischemic stroke in the right middle cerebral artery distribution. Transesophageal echocardiography (TEE) revealed a mobile pedun...

Beta-thalassaemia is a hereditary defect in the synthesis of beta-polypeptide chains of haemoglobin. Most patients with beta-thalassaemia can be classified, both genetically and haematologically, into those with the homozygous form of the disease, and those with the heterozygous disease or thalassaemia minor. However, in clinical practice one occasionally encounters a patient with thalassaemia ...

A 33-year-old male with known thalassemia intermedia presented with acute mid-back pain. Radiography and MRI were useful to evaluate the extent of iron deposition and assess for complications (such as cirrhosis) of the disease.