title: Compound heterozygosity for Hb Lepore-Boston and Hb Neapolis (Dhonburi) [beta 126(H4)Val-->Gly] in a patient from Naples, Italy.
abstract: The simultaneous presence of two hemoglobin variants has been detected in a 14-month-old patient affected by thalassemia intermedia. The two variants were characterized by a combination of allele-specific amplification methods and mass spectrometric procedures carried out on isolated globins. These were identified as Hb Lepore-Boston and Hb Neapolis (also known as Hb Dhonburi) or beta 126 (H4)Val-->Gly. Hb Lepore-Boston is the most common hybrid variant detected in Campania and several cases of Hb Neapolis which causes a mild hypochromic microcytic anemia have been identified in this region in the last few years. This is the first report of a double heterozygosity involving Hb Lepore-Boston and Hb Neapolis.
authors.affiliation: Centro Microcitemie A. Mastrobuoni, Azienda Ospedale Cardarelli, Napoli, Italia.
authors.forename: L
authors.initials: L
authors.lastname: Pagano
authors.forename: V
authors.initials: V
authors.lastname: Carbone
authors.forename: G
authors.initials: G
authors.lastname: Fioretti
authors.forename: A
authors.initials: A
authors.lastname: Viola
authors.forename: S
authors.initials: S
authors.lastname: Buffardi
authors.forename: V
authors.initials: V
authors.lastname: Rametta
authors.forename: S
authors.initials: S
authors.lastname: Desicato
authors.forename: P
authors.initials: P
authors.lastname: Pucci
authors.forename: C
authors.initials: C
authors.lastname: De Rosa
mesh_terms: D005500:Follow-Up Studies; D006403:Hematologic Tests; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007558:Italy; D008297:Male
chemical_list: D006455:Hemoglobins, Abnormal; C065670:hemoglobin Dhonburi; C031751:hemoglobin Lepore Boston