Premium
Beta‐thalassaemia in the immigrant and non‐immigrant German populations
Author(s) -
Vetter B.,
Schwarz C.,
Kohne E.,
Kulozik A. E.
Publication year - 1997
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 - 10.1046/j.1365-2141.1997.342674.x
Subject(s) - frameshift mutation , genetics , hemoglobinopathy , compound heterozygosity , mutation , heterozygote advantage , thalassemia , nonsense mutation , hemolytic anemia , population , genotype , medicine , biology , pediatrics , gene , environmental health , missense mutation
In Germany homozygous β‐thalassaemia mainly occurs in the immigrant population from endemic regions. In non‐immigrants β‐thalassaemia is rare. Heterozygous β‐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 =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 γ‐globin gene activity. α‐Thalassaemia is rare and found only in 3/29. In the 256 Germans with heterozygous β‐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 ΔG). The other mutations occur in < 10 individuals. Two mutations described here are novel. One of them affects position −2 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 ΔG). These data suggest that β‐thalassaemia in Germans was introduced from the Mediterranean in about two‐thirds of cases and that the remaining third has probably originated locally.