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...

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.

Beta-thalassemia is one of the most prevalent autosomal disorders in the world. Mutations in the HBB gene underlie deficiencies in hemoglobin production, which can interfere with oxygen delivery resulting in wide range of disease severity. Although >535 mutations have been characterized in the HBB gene, beta-thalassemia is broadly classified into three groups, based on clinical severity: beta-t...

Background Patients with thalassemia major and intermedia are susceptible to osteopenia and osteoporosis. The mechanism of osteoporosis in these patients is multifactorial. Transfusion related iron overload in endocrine organs leads to impaired growth hormone secretion, diabetes mellitus, hypothyroidism, hypoparathyroidism, lack of sex steroids and vitamin D deficiency that contribute t...

Deniz Tuğcu1, Zeynep Karakaş2, Müge Gökçe1, Leyla Ağaoğlu2, Ayşegül Ünüvar2, Ebru Sarıbeyoğlu2, Arzu Akçay1, Ömer Devecioğlu2 1Kanuni Sultan Süleyman Education and Research Hospital, Clinic of Pediatric Haematology-Oncology, İstanbul, Turkey 2İstanbul University, İstanbul Faculty of Medicine, Department of Pediatric Haematology-Oncology, İstanbul, Turkey Thalassemia Intermedia and Acute Lymphob...

Introduction: Thalassemia is common in Iran. Appropriate therapy for this disease includes a regular blood transfusion and chelation therapy. However, patients will inevitably confront with side effects, particularly iron overloads in critical organ including heart, ductless glands and liver. This study tries to determine the prevalence of diabetes mellitus in transfusion dependent β thalassemi...

Extramedullary haemopoiesis causing spinal cord compression is a rare manifestation of thalassemia. We describe a 17 year old male with thalassemia intermedia who presented with progressive paraplegia and sphincter disturbance. Magnetic resonance imaging revealed an epidural lesion extending from T5 to T8 compressing the spinal cord. The patient recovered completely after surgical decompression...

Non-transfusion-dependent thalassemias include a variety of phenotypes that, unlike patients with beta (β)-thalassemia major, do not require regular transfusion therapy for survival. The most commonly investigated forms are β-thalassemia intermedia, hemoglobin E/β-thalassemia, and α-thalassemia intermedia (hemoglobin H disease). However, transfusion-independence in such patients is not without ...