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A study of δ-globin gene mutations in the UK population: identification of three novel variants and development of a novel DNA test for Hb A'2.
Hemoglobin
February 2015
Department of Haematology, National Haemoglobinopathy Reference Laboratory, Oxford Molecular Diagnostic Centre, John Radcliffe Hospital, Oxford, Oxfordshire , UK.
We report here the spectrum of δ-globin gene mutations found in the UK population. Nine different δ chain variants and two δ-thalassemia (δ-thal) mutations were characterized in a study of 127 alleles in patients with either a low Hb A2 value or a split Hb A2 peak on high performance liquid chromatography (HPLC). The most common δ chain variant was Hb [Formula: see text] (or Hb B2) [δ16(A13)Gly → Arg; HBD: c.
View Article and Find Full Text PDFOccurrence of common and rare δ-globin gene defects in two multiethnic populations: thirteen new mutations and the significance of δ-globin gene defects in β-thalassemia diagnostics.
Int J Lab Hematol
February 2011
Department of Human and Clinical Genetics, the Reference Hemoglobinopathies Laboratory, Leiden University Medical Center, Einthovenweg 20, Leiden, The Netherlands.
Introduction: The aim of this review is to study the frequency of common and the occurrence of rare and novel mutations of the delta-globin gene and of Hb Lepore defects that might interfere with thalassemia diagnostics and to report the rationale of HbA2 estimation in the presence of delta- or alpha-gene mutations.
Methods: A total of 135 cases suspected to have a delta-globin gene defect collected in a diagnostic center in the USA and in a reference laboratory in the Netherlands were characterized by molecular analysis.
Results: Hb B2 was found at a frequency of at least 0.
Interaction of Hb A2 Indonesia trait with beta-thalassaemia trait and with Hb E trait.
Acta Haematol
September 1978
The haematological findings resulting from the interaction of Hb A2 Indonesia trait with beta-thalassaemia trait and HbA2 Ind trait with Hb E trait are discussed. A person doubly heterozygous for Hb A2 Ind and beta-thalassaemia had mild haematological abnormalities essentially similar to those found in persons with beta-thalassaemia trait alone. A carrier for both Hb A2 Ind trait and Hb E trait had essentially normal haematological findings.
View Article and Find Full Text PDFThe structure, properties and function of, and some biosynthetic and genetic aspects of, Hb A2 are described. The structural variants of Hb A2 are reviewed and their geographical distribution presented. Hb A2, Hb A2-Flatbush and Hb A2-Babinga are characteristic of negro populations and may have originated in Western or Central Africa.
View Article and Find Full Text PDFAbnormal haemoglobins and hereditary ovalocytosis in the Ulu Jempul District of Kuala Pilah, West Malaysia.
Southeast Asian J Trop Med Public Health
September 1976
A survey of abnormal haemoglobins and hereditary ovalocytosis was carried out among 629 Malays of Minangkabau descent in the Ulu Jempul District of Kuala Pilah, in the state of Negri Sembilan in West Malaysia.. Several abnormal haemoglobins were found with the following frequencies: Hb E 5.
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