Thalassaemia major in Deutschland

Flatz, G.; Hauke, H.; Kleihauer, E.

doi:10.1007/bf01488668

Klin Wochenschr

1964

DOI: 10.1007/bf01488668

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Thalassaemia major in Deutschland

G. Flatz¹,

H. Hauke²,

E. Kleihauer³

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1967

1997

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Cited by 7 publications

(2 citation statements)

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“…In Germans also, b-thalassaemia is rare (Betke & Kleihauer, 1962;Kohne & Kleihauer, 1974) with only single case reports of homozygous patients (Graser, 1941;Flatz et al, 1964;Teichgräber & Kleihauer, 1969;Eigel et al, 1989;Kulozik et al, 1991). Molecular data are available only for a small number of patients and mostly Mediterranean mutations have been reported (Laig et al, 1990).…”

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“…In the native population of non-endemic countries bthalassaemia has been reported in only small numbers (Hall et al, 1992;Indrak et al, 1992;Ringelhann et al, 1993;Wakamatasu et al, 1994). In Germans also, b-thalassaemia is rare (Betke & Kleihauer, 1962;Kohne & Kleihauer, 1974) with only single case reports of homozygous patients (Graser, 1941;Flatz et al, 1964;Teichgräber & Kleihauer, 1969;Eigel et al, 1989;Kulozik et al, 1991). Molecular data are available only for a small number of patients and mostly Mediterranean mutations have been reported (Laig et al, 1990).…”

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

et al. 1997

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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.

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

et al. 1997

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Hemoglobin E: Distribution and population dynamics

Flatz¹

1967

Hum Genet

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New mutation in a swiss girl leading to clinical and biochemical β-thalassemia minor

et al. 1973

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Thalassaemia major in Deutschland

Cited by 7 publications

References 8 publications

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

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

Hemoglobin E: Distribution and population dynamics

New mutation in a swiss girl leading to clinical and biochemical β-thalassemia minor

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