Engelsk titel: Alpha-thalassemia among Danish immigrants
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Författare:
Birgens HS
;
Karle H
;
Taaning P
Språk: Dan
Antal referenser: 13
Dokumenttyp:
Artikel
UI-nummer: 02091082
Sammanfattning
Introduction: a -thalassaemia is the most common hereditary anaemia in the world. The majority of Danish immigrants come from countries, where the prevalence of a -thalassaemia is high. The aim of this study was to evaluate its frequency in Danish immigrants. Material and methods: Over a year, all samples sent for haemoglobin analysis to our institution from patients with an MCV value =80 fl were examined for an a -thalassaemia haplotype by a PCR-based method. All samples were measured, irrespective of the MCV value, over a period of 3 months. Results: We received 239 samples with an MCV m80 fl. Fifty-seven individuals (23.8%) had one or two a -thalassaemia haplotypes. In comparison, a ß -thalassaemia trait was found in 44 individuals (18.4%). The -a3.7 haplotype was the most common (91%). Most were heterozygous, but homozygous cases and combinations with an a0 -deletion or a haemoglobin variant were also found. The more serious a0 -haplotype was found in nine cases (15.8%), among whom four cases had haemoglobin H disease. In 141 patients with MCV values above 80 fl, 11 patients had an a+ -deletion. From these findings and with the knowledge of the prevalence of ß -thalassaemia in immigrants in Denmark, we assessed the prevalence of a -thalassaemia to be between 3 and 8%. Conclusions:a -thalassemia is no longer a rare, differential diagnosis in Denmark. A national strategy is indicated for prophylactic measures, including screening for the serious a0 -deletion and prenatal diagnosis in accordance with international recommendations.