title: Problems in prenatal diagnosis of beta-thalassaemia by fetal blood analysis: beta-chain variant comigrating with gamma chains.
abstract: This report describes a couple at risk for beta-thalassaemia in which one spouse was heterozygous for classical high Hb A2 beta-thalassaemia while the other had the compound heterozygous state for beta+-thalassaemia and a beta-chain variant. This variant comigrates on carboxymethyl-cellulose columns (CMC) with gamma-chains, indicating that globin separation on CMC columns could not have been used for fetal diagnosis. The beta-chain variant migrates separately from the other globin chains on HPLC and the respective abnormal haemoglobin can be separated by isoelectrofocusing. Oligonucleotide hybridization showed that both parents were carriers of the beta+ IVS-1, nt 6 mutation. Prenatal diagnosis was successfully accomplished by oligonucleotide analysis on trophoblast DNA. This case indicates that an Antenatal Service should have alternative methods to CMC columns so as to carry out prenatal diagnosis of beta-thalassaemia in uncommon cases.
authors: Istituto di Clinica e Biologia dell'Età Evolutiva, Università degli Studi di Cagliari, Sardinia, Italy.
authors: C
authors: C
authors: Rosatelli
authors: F
authors: F
authors: Schettini
authors: G
authors: G
authors: Monni
authors: T
authors: T
authors: Tuveri
authors: M T
authors: MT
authors: Scalas
authors: A
authors: A
authors: Di Tucci
authors: G B
authors: GB
authors: Leoni
authors: A
authors: A
authors: Cao
mesh_terms: D001797:Blood Protein Electrophoresis; D005260:Female; D005312:Fetal Blood / Q000032:analysis*; D005315:Fetal Diseases / Q000175:diagnosis*; D005319:Fetal Hemoglobin / Q000032:analysis*; D006579:Heterozygote; D006801:Humans; D007525:Isoelectric Focusing; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012307:Risk Factors; D013789:Thalassemia / Q000175:diagnosis* / Q000235:genetics
chemical_list: D005319:Fetal Hemoglobin