α‐Thalassaemia in the population of Cyprus

Baysal, E.; Kleanthous, Marina; Bozkurt, G.; Kyrri, A.; Kalogirou, Eleni Ι.; Angastiniotis, M.; Ioannou, Panos; Huisman, T. H. J.

doi:10.1111/j.1365-2141.1995.tb08354.x

Cited by 63 publications

(38 citation statements)

References 25 publications

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“…In the study by Sutcu et al [13] it was reported as 27.77 %. The most frequently seen deletional mutation in Cyprus Turks with a frequency of 40 % was -MED double-gene deletion [24].…”

Section: Discussionmentioning

confidence: 99%

Alpha-Thalassemia Mutations in Adana Province, Southern Turkey: Genotype-Phenotype Correlation

Bozdoğan

Yüreğir

Büyükkurt

et al. 2014

Indian J Hematol Blood Transfus

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To look over the distribution of the mutations in a large series from Adana province, Southern Turkey, and determine the genotype-phenotype correlation of the frequent mutations. Among the 2500 individuals with mild or moderate anemia, microcytosis, and normal iron levels that were referred to our Genetic Diagnosis Center, a population consisting of 539 individuals were included in the study and tested for alpha-thalassemia mutations by using reverse dot blot hybridization technique. Twelve different mutations were detected in 539 patients. Among the 12 different mutations found, the most frequent mutations were the -a 3.7 (63.3 %), -MED (11.7 %), -20.5 (10.7 %), a2 IVS1(-5nt) (3.9 %), and a2 polyA-2 (3.5 %). The most frequent genotypes were -a 3.7 /aa (35.8 %), -a 3.7 /-a 3.7 (18.9 %), -20.5 /aa (11.5 %), and -MED /aa (10.4 %), respectively. There were statistically significant differences in hematological findings between -a 3.7 /-a 3.7 and -MED /aa, even though both have two mutated genes in the genotype. Our results show that alpha-thalassemia mutations are highly heterogeneous as well as deletional and -a 3.7 single gene deletion is particularly prevalent at Adana province in agreement to other studies from Turkey.

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“…In the study by Sutcu et al [13] it was reported as 27.77 %. The most frequently seen deletional mutation in Cyprus Turks with a frequency of 40 % was -MED double-gene deletion [24].…”

Section: Discussionmentioning

confidence: 99%

Alpha-Thalassemia Mutations in Adana Province, Southern Turkey: Genotype-Phenotype Correlation

Bozdoğan

Yüreğir

Büyükkurt

et al. 2014

Indian J Hematol Blood Transfus

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“…These defects affect not only the function of the mutated α 2 gene but also downregulate the 3' located α 1 gene by transcriptional interference. 15 The cases of HbH disease in combination with -thalassaemia which have been previously described 16,17 concern deletion defects easily detectable by standard Southern blotting procedures. The polyadenylation defect described in this family has been reported only once before, causing a near α o -thalassaemia phenotype (α o/ + -thalassaemia) in a heterozygote 8 and is reported for the first time in the homozygous form in the present family.…”

Section: Discussionmentioning

confidence: 99%

A complex haemoglobinopathy diagnosis in a family with both βo- and αo/+-thalassaemia homozygosity

Giordano

Harteveld

Bok³

et al. 1999

Eur J Hum Genet

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The occurrence of point mutation α-thalassaemia and of complex combinations of haemoglobin defects is underestimated. Haemoglobinopathies, the most frequent monogenic recessive autosomal disorder in man, occur predominantly in Mediterranean, African and Asiatic populations. However, countries of immigration with a low incidence in the indigenous population, are now confronted with a highly heterogeneous array of imported defects. Furthermore, the occurrence of severe phenotypes is bound to increase in the near future because of the endogamous growth of the ethnical minorities and the lack of prevention. We describe an Afghan family in which both partners of a consanguineous relationship are carriers of a -as well as an α-thalassaemia determinant. The combination of defects was revealed by the in vitro measurement of the /α biosynthetic ratio and was characterised at the DNA level. The molecular defects involved are the Cd5(-CT), a Mediterranean o -thalassaemia mutation, and the α o/ + 2 -thalassaemia AATA(-AA) polyadenylation defect. The α-thalassemia defect is a rare RNA-processing mutant described only twice before in heterozygous form in AsianIndian patients. The mutation suppresses the expression of a α 2 gene and reduces the expression of the less efficient, 3' located α 1 gene as well, inducing a near α o -thalassaemia phenotype. This defect is now described for the first time in the homozygous condition in one of the children who, in addition to being homozygous for the α-thalassaemia point mutation, is also a carrier of the o -thalassaemia defect. A previously described homozygous case of the α o/ + -thalassaemia condition, caused by a similar polyadenylation defect, was characterised by a severe HbH disease. However, the patient described here present at 7 years of age with severe caries, like his -thalassaemia homozygous brother but without hepatosplenomegaly, haemolysis or severe anaemia. The haematological analysis revealed 9. European Journal of Human Genetics (1999) 7, 163-168 © 1999 Stockton Press All rights reserved 1018-4813/99 $12.00 t http://www.stockton-press.co.uk/ejhg parents reported no complications during pregnancy, at birth, or in the neonatal period in rural Afghanistan. We presume therefore that the counterbalancing effect induced by the co-existing -thalassaemia defect could have modified a potentially severe perinatal HbH disease into a strongly hypochromic but well compensated 'α o -like heterozygous' thalassaemia phenotype. The risk of a severe HbH disease, could have been easily missed in this family which was referred because of a child affected with -thalassaemia major.

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“…There have been several mutational surveys of Hb H disease patients in various regions of the Mediterranean basin [7,[9][10][11][12][13] and southeast Asia [16][17][18]. As is the case for ␤-thalassemia, each population group is characterized by a relatively small number of ␣-thalassemia determinants and Hb H disease genotypes.…”

Section: Introductionmentioning

confidence: 99%

Hemoglobin H (Hb H) disease in Canada: Molecular diagnosis and review of 116 cases

et al. 2001

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α‐Thalassaemia in the population of Cyprus

Cited by 63 publications

References 25 publications

Alpha-Thalassemia Mutations in Adana Province, Southern Turkey: Genotype-Phenotype Correlation

Alpha-Thalassemia Mutations in Adana Province, Southern Turkey: Genotype-Phenotype Correlation

A complex haemoglobinopathy diagnosis in a family with both βo- and αo/+-thalassaemia homozygosity

Hemoglobin H (Hb H) disease in Canada: Molecular diagnosis and review of 116 cases

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