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Problems in prenatal diagnosis of β‐thalassaemia by fetal blood analysis: β‐chain variant comigrating with gamma chains
Author(s) -
Rosatelli C.,
Schettini F.,
Monni G.,
Tuveri T.,
Scalas M. T.,
Di Tucci A.,
Leoni G. B.,
Cao A.
Publication year - 1988
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970080511
Subject(s) - prenatal diagnosis , globin , oligonucleotide , fetus , genetics , chemistry , microbiology and biotechnology , medicine , dna , pregnancy , biology , gene
This report describes a couple at risk for β thalassaemia in which one spouse was heterozygous for classical high Hb A2 β‐thalassaemia while the other had the compound heterozygous state for β + ‐thalassaemia and a β‐chain variant. This variant comigrates on carboxymethyl‐cellulose columns (CMC) with γ‐chains, indicating that globin separation on CMC columns could not have been used for fetal diagnosis. The β‐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 β + IVS‐1, nt 6 mutation. Prenatal diagnosis was successfully accomplished by oligo‐nucleotide 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 β‐thalassaemia in uncommon cases.