SUBCLINICAL HEMORRHAGIC TENDENCY IN Β-THALASSAEMIA

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...

Β-thalassaemia Trait: Haematological Parameters

Background: β-Thalassaemia syndromes are a group of hereditary disorders characterised by a genetic deficiency in the synthesis of β-globin chains due to a defect in β-globin genes. The objective of this study was to determine the haematological features of β-thalassaemia trait (BTT), and to determine the sensitivity of Mean Corpuscular Volume (MCV), Mean Corpuscular Haemoglobin (MCH) and Mentz...

Texturing Tendency in β-Type Ti-Alloys

Prenatal diagnosis of β-thalassaemia by coelocentesis

Coelomic fluid and placental tissue were obtained from four women undergoing termination of pregnancy at 7–9 weeks gestation for psychological reasons. All four women and their partners were known carriers of β-thalassaemia and DNA analysis in their blood identified the mutation carried by each of them. Allelespecific polymerase chain reaction and denaturing gradient gel electrophoresis techniq...

Increased leucocyte apoptosis in transfused β-thalassaemia patients.

This exploratory study assessed apoptosis in peripheral blood leucocytes (PBL) from β-thalassaemia patients receiving chronic transfusions and chelation therapy (deferasirox or deferoxamine) at baseline, 1, 6, and 12 months. At baseline, thalassaemic PBLs presented 50% greater levels of Bax (BAX), 75% higher caspase-3/7, 48% higher caspase-8 and 88% higher caspase-9 activities and 428% more nuc...