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

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 mole...

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Bibliographic Details
Published in:British journal of haematology 1997-05, Vol.97 (2), p.266-272
Main Authors: Vetter, B., Schwarz, C., Kohne, E., Kulozik, A. E.
Format: Article
Language:English
Subjects:
Anemias. Hemoglobinopathies
Asia, Southeastern - ethnology
beta-Thalassemia - ethnology
beta-Thalassemia - genetics
Biological and medical sciences
Diseases of red blood cells
Emigration and Immigration
Gene Deletion
genotype–phenotype correlation
Germany
Germany - epidemiology
Hematologic and hematopoietic diseases
Heterozygote
Homozygote
Humans
Italy - ethnology
Medical sciences
Middle East - ethnology
Point Mutation
Turkey - ethnology
β‐globin mutations
β‐thalassaemia
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Summary: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
ISSN:0007-1048
1365-2141
DOI:10.1046/j.1365-2141.1997.342674.x