title: Hb Lepore-Baltimore (delta 68Leu-beta 84Thr) and Hb Lepore-Washington-Boston (delta 87Gln-beta IVS-II-8) in central Portugal and Spanish Alta Extremadura.
abstract: Hb Lepore is one of the most common abnormal haemoglobins in Caucasians in Central Portugal and in the Spanish Alta Extremadura (0.28% in a survey of school children). A group of 19 Portuguese and 14 Spanish Hb Lepore carriers (all unrelated) was characterised at the molecular level by the polymerase chain reaction, sequencing and restriction enzyme analysis. The Portuguese and one Spanish carrier were heterozygous for Hb Lepore-Baltimore, whereas all other Spanish subjects were Hb Lepore-Washington-Boston carriers. Sequencing of the Hb Lepore-Baltimore gene further established the crossover at delta 68-beta 84, a region two codons (CDs) shorter than that previously described and easily confirmed by digestion with MaeI and BanI. Data from haplotype analysis suggest that this crossover occurred as an independent event on the Iberian Peninsula. The haematological data were similar in both groups except for the levels of Hb F and the G gamma chain, which were significantly higher in the Hb Lepore-Baltimore heterozygotes. Quantification of the globin chains and the mRNA transcripts showed that the delta beta gene is transcribed at a higher level than the delta gene with levels of translation giving rise to 10%-15% of Hb Lepore. The different levels of Hb F observed in the two groups are the results of the higher transcription rate of the gamma genes in Hb Lepore-Baltimore heterozygotes and an apparently less efficient translation of G gamma genes in Hb Lepore-Washington-Boston heterozygotes.
authors.affiliation: Unidade de Hematologia Molecular, Centro Hospitalar de Coimbra, Portugal.
authors.forename: M L
authors.initials: ML
authors.lastname: Ribeiro
authors.forename: E
authors.initials: E
authors.lastname: Cunha
authors.forename: P
authors.initials: P
authors.lastname: Gonçalves
authors.forename: G
authors.initials: G
authors.lastname: Martin Núñez
authors.forename: M A
authors.initials: MA
authors.lastname: Fernandez Galan
authors.forename: G P
authors.initials: GP
authors.lastname: Tamagnini
authors.forename: N S
authors.initials: NS
authors.lastname: Smetanina
authors.forename: L H
authors.initials: LH
authors.lastname: Gu
authors.forename: T H
authors.initials: TH
authors.lastname: Huisman
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D006580:Genetic Carrier Screening; D006455:Hemoglobins, Abnormal / Q000096:biosynthesis / Q000235:genetics*; D006801:Humans; D016133:Polymerase Chain Reaction; D011174:Portugal; D012333:RNA, Messenger / Q000096:biosynthesis; D012044:Regression Analysis; D015183:Restriction Mapping; D013030:Spain; D014158:Transcription, Genetic
chemical_list: D017931:DNA Primers; D006455:Hemoglobins, Abnormal; D012333:RNA, Messenger; C039800:hemoglobin Lepore Boston-Washington; C037468:hemoglobin Lepore Baltimore; C037659:hemoglobin Lepore