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Haematological Aspects of Antenatal Diagnosis for Thalassaemia in Britain
Author(s) -
Matsakis M.,
Berdoukas V. A.,
Angastiniotis M.,
Mouzouras M.,
Ioannou P.,
Ferrari M.,
Modell B.,
Fairweather D. V. I.,
Ward R. H. T.,
Loukopoulos D.,
Sakarellou N.
Publication year - 1980
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1980.tb05957.x
Subject(s) - fetus , medicine , prenatal diagnosis , obstetrics , pregnancy , thalassemia , beta thalassaemia , pediatrics , hemoglobinopathy , hemolytic anemia , biology , genetics
S ummary . The results are described of 200 antenatal diagnostic tests for haemoglobinopathies performed on samples of fetal blood obtained during the second trimester of pregnancy. Haemoglobin A synthesis in the fetus was measured by incorporation of tritiated leucine in vitro and separation of the globin chains on CM23 columns. The range of HbA synthesis detected was 3.5–8.0% in normal fetuses, 2.0–5.0% in fetuses with thalassaemia trait, and less than 1.6% in fetuses with thalassaemia major. There were eight cases in which other haemoglobinopathies were diagnosed. 29% of the pregnancies were terminated because thalassaemia major was diagnosed, and 9.5% of the remaining healthy fetuses were lost for obstetric reasons. Follow up has been possible for 96% of the 124 surviving babies and three misdiagnoses have come to light; one false positive (0.5%) and two false negatives (1%). These figures represent a first effort at antenatal diagnosis for haemoglobinopathies and it is likely that they will improve with the passage of time.