title: Multiplex ligation-dependent probe amplification identification of 17 different beta-globin gene deletions (including four novel mutations) in the UK population.
abstract: Large deletions of the beta-globin gene cluster are problematic to diagnose, and consequently the frequency and range of these mutations in the UK is unknown. Here we present a study evaluating the efficacy of the recently available technique of multiplex ligation-dependent prob amplification (MLPA) to determine the range and frequency of these deletions in the UK population. The results revealed a large deletion mutation in 75 of 316 patient samples collected over a 3-year period. Of these, 52 had a common (deltabeta)(0)-thalassemia [(deltabeta)(0)-thal] or hereditary persistence of fetal hemoglobin (HPFH) allele and 23 had rare or novel deletions resulting in (epsilon(G)gamma(A)gammadeltabeta)(0)-thal, (G)gamma(A)gamma(deltabeta)(0)-thal and beta(0)-thal. A total of 17 different deletions were found, 10 of which were rare and four were most likely novel [Asian Indian (epsilon(G)gamma(A)gammadeltabeta)(0)-thal, African (deltabeta)(0)-thal, African beta(0)-thal and Afghanistani beta(0)-thal]. The MLPA technique detected examples from all four categories of beta-globin gene deletions and demonstrated the wide molecular basis of deletional beta-thal/HPFH in UK patients.
authors: The National Haemoglobinopathy Reference Laboratory, Molecular Haematology, Oxford Radcliffe National Health Service Trust, Oxford OX3 7LJ, Oxfordshire, UK.
authors: Alice E
authors: AE
authors: Gallienne
authors: Hélène M
authors: HM
authors: Dréau
authors: Janice
authors: J
authors: McCarthy
authors: Adele T
authors: AT
authors: Timbs
authors: Janet M
authors: JM
authors: Hampson
authors: Anna
authors: A
authors: Schuh
authors: John M
authors: JM
authors: Old
authors: Shirley J
authors: SJ
authors: Henderson
mesh_terms: D005319:Fetal Hemoglobin / Q000235:genetics; D017353:Gene Deletion; D005787:Gene Frequency; D006453:Hemoglobinopathies / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D009154:Mutation; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*; D013789:Thalassemia / Q000235:genetics; D006113:United Kingdom / Q000453:epidemiology / Q000208:ethnology; D055544:beta-Globins / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055544:beta-Globins; D005319:Fetal Hemoglobin