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Prenatal diagnosis of thalassemia and hemoglobinopathies in Switzerland
Author(s) -
Beris Photis,
Darbellay Regis,
Dornier Catherine,
Hochmann Agnes,
Miescher Peter
Publication year - 1991
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.1991.tb01271.x
Subject(s) - prenatal diagnosis , thalassemia , hydrops fetalis , medicine , pediatrics , hemoglobinopathy , vietnamese , concomitant , fetus , obstetrics , genetics , biology , pregnancy , hemolytic anemia , linguistics , philosophy
During a 10‐month period, 10 couples originating from Africa (3), the tropics (1) and the thalassemia‐belt region (6), living in Switzerland, requested prenatal diagnosis of hemoglobinopathies. Hb SS (twice), Hb Bart's (Hydrops fetalis) and β‐thalassemia major were diagnosed either by gene mapping or by direct detection of the mutations in DNA amplified by the PCR procedure. Whenever it was possible to obtain fetal blood or tissue, diagnosis was confirmed. In one Vietnamese man, concomitant existence of α‐thal 1 with β‐thalassemia resulted in an unusually high Hb level because of balanced α and β globin synthesis. The 10 couples examined originated from 7 different countries and presented at least 7 different Hb pathologies. This variety of pathologies represents the main difficulty for prenatal diagnosis of hemoglobinopathies in a non‐endemic country. A diagnostic approach to overcome this problem is developed.