Hematological and molecular analysis of beta-thalassemia and Hb Lepore in Campania, Italy.
This epidemiological study was based on a hematological and a molecular analysis of 310 heterozygous beta thalassemic and 75 carriers of Hb Lepore out of 3,000 microcythemic subjects from the Campania region of Italy. The molecular analysis of beta chains and the deltabeta hybrid gene has shown different beta chain defects, but only the Hb Lepore-Boston-Washington type in association with haplotypes I and V. The prevalence and distribution of these molecular defects in Campania show that they are linked to historical events and to the geographical characteristics of this region.
Ferrara
M
M
Department of Pediatrics, Naples' Second University, Italy. mara.ferrara@unina2.it
Matarese
S M
SM
Francese
M
M
Borrelli
B
B
Coppola
L
L
Coppola
A
A
Esposito
L
L
D016000:Cluster Analysis; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D004906:Erythrocyte Count; D004909:Erythrocyte Indices; D005319:Fetal Hemoglobin / Q000032:analysis; D005787:Gene Frequency; D005914:Globins / Q000235:genetics*; D006115:Greece / Q000208:ethnology; D006239:Haplotypes / Q000235:genetics; D006453:Hemoglobinopathies / Q000208:ethnology / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007558:Italy / Q000453:epidemiology; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D015995:Prevalence; D017086:beta-Thalassemia / Q000208:ethnology / Q000235:genetics*
D003062:Codon; D006455:Hemoglobins, Abnormal; C039800:hemoglobin Lepore Boston-Washington; D005914:Globins; D005319:Fetal Hemoglobin; C037659:hemoglobin Lepore