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Twelve Cases of Hb Manitoba [α102(G9)Ser→Arg]: the Fluctuation in the Variant Expression.
Hemoglobin
November 2020
National Haemoglobinopathy Reference Laboratory, Oxford Radcliffe Hospitals National Health Service Trust, Oxford, Oxfordshire, UK.
Hb Manitoba [α102(G9)Ser→Arg] is a rare α chain variant with diverse ethnic origins. It is mildly unstable with an expression of around 10.0-14.
View Article and Find Full Text PDFHb Manitoba [α102(G9)Ser→Arg] in Pasifika: Tongan Case Report.
Hemoglobin
July 2020
Biochemistry Department, Canterbury Health Laboratories, Christchurch, New Zealand.
Hb Manitoba [α102(G9)Ser→Arg] results from an GC>GC or AG>AG substitution at codon 102 of the or genes. The variant is mildly unstable but carriers typically have normal clinical presentation and hematological profile. Hb Manitoba has not been reported in Pasifika of Tongan, Samoan or New Zealand (NZ) Māori descent before.
View Article and Find Full Text PDFA Wide Spectrum Study of α-Globin Chain Variants: Cases from the UK.
Hemoglobin
May 2020
National Haemoglobinopathy Reference Laboratory, Oxford Radcliffe Hospitals National Health Service Trust, Oxford, UK.
Over many years, cases of suspected α-globin chain variants were collected from different parts of the UK. The suspicion was based on the clinical picture, high performance liquid chromatography (HPLC) variant percentage, retention time (RT) and isoelectric focusing (IEF). DNA sequencing and the restriction enzyme EI were used for definitive diagnosis.
View Article and Find Full Text PDFTen Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.
Hemoglobin
December 2016
a National Haemoglobinopathy Reference Laboratory, Biomedical Research Centre Molecular Diagnostic Laboratory, Haematology Department, John Radcliffe Hospital, Oxford , Oxfordshire , UK.
We review and report here the genotypes and phenotypes of 60 novel thalassemia and abnormal hemoglobin (Hb) mutations discovered following the adoption of routine DNA sequencing of both α- and β-globin genes for all UK hemoglobinopathy samples referred for molecular investigation. This screening strategy over the last 10 years has revealed a total of 11 new β chain variants, 15 α chain variants, 19 β-thalassemia (β-thal) mutations and 15 α(+)-thalassemia (α(+)-thal) mutations. The large number of new thalassemia alleles confirms the wide racial heterogeneity of mutations in the UK immigrant population.
View Article and Find Full Text PDF[Study on the screening program of thalassemia and the genotype and hematologic parameter among people of productive age in a village, Nanning Guangxi].
Zhonghua Liu Xing Bing Xue Za Zhi
September 2006
Department of Hematology, The 303 Hospital of People's Liberation Army, Nanning 530021, China.
Article Synopsis
- * Methods: 2044 participants were analyzed using specialized blood tests; out of these, 430 were selected for thalassemia gene testing based on their hemoglobin status.
- * Results: The carrier rate for beta-thalassemia was found to be 7.97%, with notable varieties in genotypes and significant reductions in certain blood parameters (MCV and MCH) among those affected, particularly in combination thalassemia cases.
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