title: Molecular and clinical analysis of haemoglobin Lepore in Campania, a region of Southern Italy.
abstract: OBJECTIVE
  To date in Italy, there is paucity on data about the prevalence, clinical and haematological features of patients carrying the haemoglobin (Hb) Lepore variant in homozygous or in association with other haemoglobinopathies.
  
  
  METHODS
  Here we report the results of a retrospective analysis on 33 patients from Campania, a region of Southern Italy, historically followed at 'UOSD Malattie Rare del Globulo Rosso' of Cardarelli hospital, Naples, Italy.
  
  
  RESULTS
  We described 33 patients carrying the Hb Lepore variant: 21 compound heterozygotes with a common thalassaemia allele, six patients with homozygous state for Hb Lepore, five patients with Hb Lepore/Hb S and one patient with Hb Lepore/Hb Neapolis were identified. All individuals carried haplotype I or V.
  
  
  CONCLUSIONS
  These thalassaemic patients showed different phenotypes ranging from severe disease with early blood transfusion dependency to moderate form of thalassaemia intermedia. In most cases, thalassaemia mutation type determined the severity of the disease.
  
  
  CONCLUSIONS
  A great variability of clinical phenotype among the same genotypes was also observed suggesting the presence of unknown genetic modifiers acting in combination with Hb Lepore.
authors.affiliation: a UOSD Malattie rare del globulo rosso, AORN A. Cardarelli , Naples , Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Ricchi
authors.affiliation: a UOSD Malattie rare del globulo rosso, AORN A. Cardarelli , Naples , Italy.|c Laboratory of clinical chemistry and microbiology, Fondazione IRCCS Ca' Grande Ospedale Maggiore Policlinico , Milan , Italy.
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Ammirabile
authors.affiliation: a UOSD Malattie rare del globulo rosso, AORN A. Cardarelli , Naples , Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Spasiano
authors.affiliation: a UOSD Malattie rare del globulo rosso, AORN A. Cardarelli , Naples , Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Costantini
authors.affiliation: b UOC Clinical Pathology, AORN Monaldi-Cotugno-CTO , Naples , Italy.
authors.forename: Tiziana
authors.initials: T
authors.lastname: Di Matola
authors.affiliation: a UOSD Malattie rare del globulo rosso, AORN A. Cardarelli , Naples , Italy.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Cinque
authors.affiliation: a UOSD Malattie rare del globulo rosso, AORN A. Cardarelli , Naples , Italy.
authors.forename: Caterina
authors.initials: C
authors.lastname: Saporito
authors.affiliation: a UOSD Malattie rare del globulo rosso, AORN A. Cardarelli , Naples , Italy.
authors.forename: Aldo
authors.initials: A
authors.lastname: Filosa
authors.affiliation: a UOSD Malattie rare del globulo rosso, AORN A. Cardarelli , Naples , Italy.
authors.forename: Leonilde
authors.initials: L
authors.lastname: Pagano
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D015415:Biomarkers; D001803:Blood Transfusion; D002648:Child; D002675:Child, Preschool; D005260:Female; D014644:Genetic Variation; D006453:Hemoglobinopathies / Q000097:blood* / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D015415:Biomarkers; D006455:Hemoglobins, Abnormal; C037659:hemoglobin Lepore
keywords: Thalassaemia; genotype; haematopoiesis; haemoglobin; haplotype; phenotype; variant