Compound heterozygosity for Hb Lepore-Boston and Hb Neapolis (Dhonburi) [beta 126(H4)Val-->Gly] in a patient from Naples, Italy.
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.
Pagano
L
L
Centro Microcitemie A. Mastrobuoni, Azienda Ospedale Cardarelli, Napoli, Italia.
Carbone
V
V
Fioretti
G
G
Viola
A
A
Buffardi
S
S
Rametta
V
V
Desicato
S
S
Pucci
P
P
De Rosa
C
C
D005500:Follow-Up Studies; D006403:Hematologic Tests; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007558:Italy; D008297:Male
D006455:Hemoglobins, Abnormal; C065670:hemoglobin Dhonburi; C031751:hemoglobin Lepore Boston