Neapolis (CD 126 beta+ GGT->GGG): a result of a screening in Campania, a region in Southern Italy.
Between January 1995 and December 2005, we conducted a screening program for the presence of Hb Neapolis, a rare abnormal Hb variant, in Campania, a region in Southern Italy. Nineteen patients with Hb Neapolis in heterozygosis and six patients with a genetic compound (Hb Neapolis/beta-thalassemia) were identified. Patients with Hb Neapolis in heterozygosis showed a slight alteration in HbA2 levels while compounds showed typical characteristics of thalassemia intermedia ranging from a non transfusion-dependent form for five patients to a transfusion-dependent form for one adult patient.
Pagano
Leonilde
L
UOS, Diagnosi delle Talassemie, UOC di Microcitemia, Azienda Ospedaliera di Rilievo Nazionale A. Cardarelli, Napoli, Italy. ildepagano@libero.it
Viola
Assunta
A
Fioretti
Gennaro
G
Ammirabile
Massimiliano
M
Ricchi
Paolo
P
Prossomariti
Luciano
L
D005838:Genotype; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007558:Italy; D008403:Mass Screening; D017354:Point Mutation; D013789:Thalassemia / Q000175:diagnosis / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C065670:hemoglobin Dhonburi