Beta‐thalassaemia in the immigrant and non‐immigrant German populations

Abstract

Summary.In Germany homozygous b-thalassaemia mainly occurs in the immigrant population from endemic regions. In non-immigrants b-thalassaemia is rare. Heterozygous b-thalassaemia minor, however, is more common and must be considered in the differential diagnosis of hypochromic anaemia. The clinical and molecular data of 221 homozygous patients and 256 non-immigrant German heterozygous individuals are presented. Clinically, 87% (n ¼ 192) of the homozygotes are classified as thalassaemia major (TM) and the other 13% as thalassaemia intermedia (TI). There is a wide spectrum of 39 thalassaemia mutations which occur with relatively low frequencies in individual cases. In 17/29 TI patients 'mild' mutations have been found and in 16/29 there are mutations that are associated with increased g-globin gene activity. a-Thalassaemia is rare and found only in 3/29.In the 256 Germans with heterozygous b-thalassaemia there are 27 different thalassaemia mutations. The three most common are Mediterranean, together accounting for 61%. Also relatively common (5%) is an otherwise rare frameshift mutation of codon 83 (FS83 DG). The other mutations occur in < 10 individuals. Two mutations described here are novel. One of them affects position ¹2 of the intron 1 splice acceptor site (IVSI-129 A-G) and the other is a deletion of a single G in codon 15/16 (FS 15/16 DG). These data suggest that b-thalassaemia in Germans was introduced from the Mediterranean in about two-thirds of cases and that the remaining third has probably originated locally.

?-thalassemia in the German population: Mediterranean, Asian and novel mutations

“…Twenty-six of the 27 subjects were heterozygous for mutations frequently observed in Mediterranean countries, particularly in Italy. Similar results in Great Britain, Belgium and Germany have been published more recently (Hall et al 1992, Heusterspreute et al 1996, Vetter et al 1997. We report here the results of an extended molecular analysis of the ß-thalassemia genes of the 13 subjects whose mutation was not identified in the study of Laig et al (1990).…”

Epidemiological situation and treatment of patients with thalassemia major in Germany: results of the German multicenter β-thalassemia study

“…The diagnosis of homozygous or combined heterozygous b-thalassemia was confirmed by molecular-genetic analysis [21,22]. Patients with other thalassemia syndromes have been included separately.…”

“…An additional observation group, which has not been evaluated here with respect to therapy results, comprises five patients with thalassemia intermedia (i.e., homozygous or combined heterozygous b-thalassemia without need of regular transfusions), two patients each with double heterozygous b-thalassemia/Hb Lepore anomaly and with homozygous Hb Lepore, one patient with bd/b-thalassemia, and two patients with HbE/b-thalassemia. The results of molecular-genetic analysis have been published recently [21,22].…”

The Molecular Spectrum of Beta-Thalassemia and Abnormal Hemoglobins in the Allochthonous and Autochthonous Dutch Population

“…The cd121 (G→T) mutations found in 4 independent Dutch families, for instance, suggest a possible frequent mutation site at cd121 [Giordano et al, in press]. Two autochthonous German patients with a cd121 (G→T) mutation recently reported by Vetter et al [31]would appear to corroborate this assumption.…”

“…Vetter et al [31]have recently observed the presence of 27 different β-thalassemia mutations in the auto- and allochthonous German population. These authors studied a population sample consisting of 221 allochthonous ‘homozygous’ and 256 autochthonous heterozygous patients.…”