Non-transfusion-dependent thalassaemia (NTDT) refers to all thalassaemia disease phenotypes that do not require regular blood transfusions for survival. Thalassaemia disorders were traditionally concentrated along the tropical belt stretching from sub-Saharan Africa through the Mediterranean region and the Middle East to South and South-East Asia, but global migration has led to increased incid...

In the Mediterranean area, 50% of the beta thalassaemia mutations abolish or create a restriction endonuclease site in the beta globin gene. This study describes a new procedure for prenatal detection of these beta thalassaemia defects based on the direct visualisation, on an ethidium bromide stained polyacrylamide gel, of the discrete DNA fragments produced by restriction endonuclease digestio...

BACKGROUND Beta-Thalassaemia results from co-inheritance of two mutant beta-globin alleles. Allogeneic cord blood cell transplantation (CBT) from an HLA-identical sibling donor is an excellent treatment option for beta-thalassaemia. In families with an affected child and willing to have another child, IVF followed by preimplantation genetic diagnosis (PGD) can be applied to exclude affected emb...

Hereditary elliptocytosis has been described in sporadic association with ,-thalassaemia (Brumpt, Delabarre, and De Traverse, 1960; De Vries, De Jong, and Frenkel, 1959; Aksoy, 1963; Perillie and Chernoff, 1965; Angelopoulos and Caralis, 1965). With the exception of two cases reported by Perllie and Chernoff (1965) and Angelopoulos and Caralis (1965), the combination of hereditary elliptocytosi...

BACKGROUND: Previous preliminary reports have suggested potential interactions between microcytic anaemia and mood disorders. In particular, heterozygous beta-thalassaemia has been implicated in the bipolar spectrum. This study surveyed relevant haematological parameters in a large sample of psychiatric outpatients with the aim of clarifying previous observations. METHODS: Mean Corpuscular Volu...

The study concerned the identification of the beta-thalassaemia mutations that were present in 24 patients with beta-thalassaemia major who were transfusion dependent. The application of a modified polymerase chain reaction, the amplification refractory system (ARMS) was found to be an effective and rapid method for the identification of the beta-thalassaemia mutations. Six different mutations ...

Haemoglobin Variants are genetic haematological abnormalities affecting millions of people all over the world. Hb E, Hb S and βthalassaemia are the most prevalent Hb variants in NorthEastern region of India. Identification of these disorders is immensely important to prevent the occurrence of serious haemoglobin disorders. The objective of the study was to diagnose and find the occurrence of Hb...

AIMS To compare high performance liquid chromatography (HPLC) with conventional methods for the estimation of blood haemoglobin A2 (HbA2) and haemoglobin F (HbF) concentrations in routine thalassemia screening. METHODS An HPLC system (the VARIANT Hemoglobin Testing System) was tested for precision and reproducibility in the measurement of HbA2 and HbF, and reference ranges were obtained for a...

Thalassaemia and sickle cell disease (SCD) represent the most common forms of hereditary haemolytic anaemia and result from a partial or complete lack of synthesis of one of the major alpha- or beta-globin chains of haemoglobin A or from a single amino acid mutation (beta(6Glu-->Val)) of the beta-globin chain respectively. Although they have different pathophysiologies, patients with these cond...

BACKGROUND Haemoglobinopathies are seen mostly in regions where malaria occurs or has occurred, but population migration has resulted in affected individuals being identified in many countries globally. The first molecular genetics services for diagnostic testing and prenatal diagnosis were established, both worldwide and in South Africa (SA), for haemoglobinopathies. OBJECTIVE To analyse the...