Beta zero-thalassaemia comprises a series of closely related haemoglobinopathies which are widely spread in some areas (the Mediterranean, Caucasus, Central Asia, and others). It is caused by a variety of mutations in the beta-globin gene which damage its expression, thus leading to severe illness, which is often lethal at an early age. By means of the polymerase chain reaction (PCR), restriction analysis, and sequencing by the Maxam-Gilbert method, we have identified a number of mutations in the beta-globin gene that cause beta zero-thalassaemia in the Azerbaijanian population, viz AA deletion in codon 8, C----T transition in codon 39, and a previously unknown G deletion in codons 82/83.
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Molecular and hematological studies in a cohort of beta zero South East Asia deletion (β°-thal SEA) from Malaysian perspective.
Front Pediatr
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Advanced Genomics Sdn Bhd, Petaling Jaya, Malaysia.
Abstract: We report the haematological parameters and molecular characterization of beta zero (β°) South East Asia (SEA) deletion in the gene cluster with unusually high levels of Hb F compared to a classical heterozygous beta zero (β°)-thalassaemia.
Methods: Retrospective study on 17 cases of (β°) South East Asia (SEA) deletion from 2016 to 2019 referred to Institute for Medical Research were conducted. The clinical information and haematological profiles were evaluated.
Global epidemiology of haemoglobin disorders and derived service indicators.
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June 2008
WHO Collaborating Centre for Community Control of Hereditary Disorders, UCL Centre for Health Informatics and Multiprofessional Education (CHIME), Archway Campus, Highgate Hill, London N195LW, England.
To demonstrate a method for using genetic epidemiological data to assess the needs for equitable and cost-effective services for the treatment and prevention of haemoglobin disorders. We obtained data on demographics and prevalence of gene variants responsible for haemoglobin disorders from online databases, reference resources, and published articles. A global epidemiological database for haemoglobin disorders by country was established, including five practical service indicators to express the needs for care (indicator 1) and prevention (indicators 2-5).
View Article and Find Full Text PDFA complex haemoglobinopathy diagnosis in a family with both beta zero- and alpha (zero/+)-thalassaemia homozygosity.
Eur J Hum Genet
June 1999
Department of Human Genetics, Leiden University Medical Centre, The Netherlands.
The occurrence of point mutation alpha-thalassaemia and of complex combinations of haemoglobin defects is underestimated. Haemoglobinopathies, the most frequent monogenic recessive autosomal disorder in man, occur predominantly in Mediterranean, African and Asiatic populations. However, countries of immigration with a low incidence in the indigenous population, are now confronted with a highly heterogeneous array of imported defects.
View Article and Find Full Text PDFFatal Campylobacter jejuni infection in a patient splenectomised for thalassaemia.
J Clin Pathol
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Department of Medicine, Hospital Universiti Sains Malaysia, Kota Bharu, Kelantan, Malaysia.
A 35 year old man with a fatal Campylobacter jejuni infection is described. He had HbE/beta zero thalassaemia and had undergone splenectomy nine months previously for hypersplenism; he also had chronic hepatitis C infection. He presented with high grade fever but no gastrointestinal symptoms and rapidly progressed to septicaemic shock and hepatic encephalopathy despite treatment with penicillin, gentamicin, and, later, chloramphenicol and ceftazidime.
View Article and Find Full Text PDFIncreased susceptibility of microcytic red blood cells to in vitro oxidative stress.
Eur J Haematol
November 1995
Haematology Laboratory Department, Hospital Clínic i Provincial, University of Barcelona, Spain.
Oxidative damage to erythrocytes in thalassaemia has been related to generation of free radicals by an excess of denaturated alpha- or beta-globin chains, intracellular iron overload and low concentration of normal haemoglobin (HGB). Two good indicators of such oxidative damage are the high red blood cell (RBC) malonyldialdehyde (MDA) production detected following exogenous oxidant stress and the decrease of pyrimidine 5'-nucleotidase (P5N), the most sensitive enzyme to SH-group damage in vivo. Conflicting data, however, have so far accumulated in the literature concerning differences in oxidative damage between the different forms of thalassaemia and iron deficiency anaemia (IDA).
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