PMID: 9163586May 1, 1997Paper

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

British Journal of Haematology
B VetterA E Kulozik

Abstract

In Germany homozygous beta-thalassaemia mainly occurs in the immigrant population from endemic regions. In non-immigrants beta-thalassaemia is rare. Heterozygous beta-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 gamma-globin gene activity. alpha-Thalassaemia is rare and found only in 3/29. In the 256 Germans with heterozygous beta-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 deltaG). The other mutations occur in < 10 individuals. Two mutations described here are novel. One of them affect...Continue Reading

Citations

Jun 17, 1998·The EMBO Journal·R ThermannA E Kulozik
Jan 1, 2007·Indian Journal of Human Genetics·Rahim FakherAkbari Mohammad Taghi
Jul 1, 2015·British Journal of Haematology·Karlene MasonGraham Serjeant
Jan 30, 2016·International Journal of Laboratory Hematology·J F BorgioA K Al-Ali
Jun 6, 2009·Clinical Biochemistry·Shirley HendersonJohn Old
Feb 8, 2007·Orthodontics & Craniofacial Research·F AminiS Sharifzadeh
Jun 30, 2004·Blood Cells, Molecules & Diseases·Deborah RundAriella Oppenheim
Jul 27, 2017·Hemoglobin·Abdul H KandhroPornlada Nuchnoi
Jan 11, 2019·Hemoglobin·Graham R SerjeantAndreas E Kulozik
Mar 17, 2007·Scandinavian Journal of Clinical and Laboratory Investigation·B ModellE Theodorsson
Jul 26, 2008·Hemoglobin·Peyman EshghiEbrahim Miri-Moghadam
Mar 17, 2020·Hemoglobin·André R BelisárioUNKNOWN Recipient Epidemiology and Donor Evaluation Study (REDS-III) International Component Brazil
May 12, 1998·Hemoglobin·T H Huisman, M F Carver
Jan 22, 2011·Hemoglobin·Graham R SerjeantAlan Donaldson
May 12, 1998·Hemoglobin·I SweetingB Vetter
Feb 27, 2010·Deutsches Ärzteblatt International·Elisabeth Kohne, Enno Kleihauer
Jun 29, 2000·Baillière's Clinical Haematology·S L Thein

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