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Molecular exclusion of haemoglobin SD disease by prenatal diagnosis
Author(s) -
Fodor Flora H.,
Eng Christine M.
Publication year - 1999
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/(sici)1097-0223(199901)19:1<58::aid-pd453>3.0.co;2-1
Subject(s) - prenatal diagnosis , mutation , chorionic villus sampling , asymptomatic , allele , genetics , medicine , fetus , biology , microbiology and biotechnology , pregnancy , gene
The most common Hb D variant, Haemoglobin D (Hb D) Los Angeles is caused by a glutamic acid to glutamine substitution at codon 121 of the β globin gene. Although asymptomatic in the heterozygous form, inheritance together with an Hb S allele can result in a severe disease similar to sickle‐cell anaemia that is referred to as Hb SD disease. Prenatal diagnosis for Hb SD disease was requested by an at‐risk couple of Irish/English descent. Prenatal diagnosis was performed on DNA isolated from chorionic villi at 12 weeks' gestation using dot blot and allele‐specific oligonucleotide hybridization for the HbS mutation, and two independent approaches, restriction fragment analysis and ARMS (amplification refractory mutation system) for the detection of the Hb D Los Angeles mutation. The fetus was found to be heterozygous for the HbS mutation, but did not inherit the HbD mutation. Thus, a reliable and rapid prenatal diagnosis for the Hb SD disease can be achieved by molecular diagnosis. Copyright © 1999 John Wiley & Sons, Ltd.