THE STUDY OF THE SPECTRUM OF THALASSEMIC MUTATIONS AT THE NORTH-WEST REGION OF RUSSIA
(Abstract release date: 05/19/16)
EHA Library. Zhilenkova Y. 06/09/16; 134966; PB2066
Ms. Yuliya Zhilenkova
Contributions
Contributions
Abstract
Abstract: PB2066
Type: Publication Only
Background
Beta-thalassemia - a hereditary disorders of hemoglobin synthesis, which are transmitted in an autosomal recessive inheritance. The main stage of the prevention of thalassemia is the molecular diagnosis of thalassemic mutations in the fetus conducted at 1st trimester of pregnancy. The possibility of this diagnosis is determined by the availability of data on the molecular defects of beta-globin gene in this region.
Aims
To examine the incidence of mutations of beta-globin gene in the North-West region for the development of measures for the prevention of beta-thalassemia.
Methods
Molecular diagnostic was performed at 65 patients (men - 31, women - 34, from 2 to 58 years) with a diagnosis of beta-thalassemia (minor and major), were examined and treated at The Consultative and Diagnostic Center for Children and The Russian Research Institue of Hematology and Transfusiology (Saint-Petersburg). All patients living in St. Petersburg, but have a different ethnic composition: 40% - Azerbaijanis; 33.8% - Russian, who (according to them) havn’t Caucasian or Mediterranean roots; 11.3% - Bulgarians, Cypriots; 8.7% - Dagestan; 6.2% - patients of mixed families (one parent - Russian, the other - from the Caucasus or Mediterranean). Diagnos thalassemia set on the basis of red blood cells parameters (microcytosis - the MCV <80 fl, hypochromia - MCH <27 pg, Mentzer index <11.4) and hemoglobin fractions (Hb A2> 3% and / or Hb F> 1%). The material for the study served as the venous blood. Red blood parameters were determined on the hematology analyzer Sysmex XT-4000i (Sysmex, Japan), fractions of hemoglobin investigated by capillary electrophoresis (MINICAP, Sebia, France). Mutations of the beta-globin gene was determined by reverse- hybridization of method of biotinylated multiplex-PCR products (β-GlobinStripAssay, ViennaLabDiagnostics, Austria).
Results
In examined patients 5 homozygous (large form of thalassemia), 2 compound heterozygous and 58 heterozygous (small form) were applied. A total of 10 thalassemic mutation was found: codon 8 (-AA) - 38%; IVS 1.110 (G> A) - 27%; 5 codon (-CT) - 7%; IVS 1.6 (T> C) and IVS 2.1 (G> A) - 6%; IVS 2.745 (C> G), IVS 1.1 (G> A) iIVS 1.5 (G> C) - 4%; codon 8 \ 9 - 3%; -101 (C> T) - 1%.
Conclusion
The most frequent mutations of the beta-globin gene in St. Petersburg were codon 8 (-AA) - 38% and IVS 1.110 (G> A) - 27%.
Session topic: E-poster
Keyword(s): Beta thalassemia
Type: Publication Only
Background
Beta-thalassemia - a hereditary disorders of hemoglobin synthesis, which are transmitted in an autosomal recessive inheritance. The main stage of the prevention of thalassemia is the molecular diagnosis of thalassemic mutations in the fetus conducted at 1st trimester of pregnancy. The possibility of this diagnosis is determined by the availability of data on the molecular defects of beta-globin gene in this region.
Aims
To examine the incidence of mutations of beta-globin gene in the North-West region for the development of measures for the prevention of beta-thalassemia.
Methods
Molecular diagnostic was performed at 65 patients (men - 31, women - 34, from 2 to 58 years) with a diagnosis of beta-thalassemia (minor and major), were examined and treated at The Consultative and Diagnostic Center for Children and The Russian Research Institue of Hematology and Transfusiology (Saint-Petersburg). All patients living in St. Petersburg, but have a different ethnic composition: 40% - Azerbaijanis; 33.8% - Russian, who (according to them) havn’t Caucasian or Mediterranean roots; 11.3% - Bulgarians, Cypriots; 8.7% - Dagestan; 6.2% - patients of mixed families (one parent - Russian, the other - from the Caucasus or Mediterranean). Diagnos thalassemia set on the basis of red blood cells parameters (microcytosis - the MCV <80 fl, hypochromia - MCH <27 pg, Mentzer index <11.4) and hemoglobin fractions (Hb A2> 3% and / or Hb F> 1%). The material for the study served as the venous blood. Red blood parameters were determined on the hematology analyzer Sysmex XT-4000i (Sysmex, Japan), fractions of hemoglobin investigated by capillary electrophoresis (MINICAP, Sebia, France). Mutations of the beta-globin gene was determined by reverse- hybridization of method of biotinylated multiplex-PCR products (β-GlobinStripAssay, ViennaLabDiagnostics, Austria).
Results
In examined patients 5 homozygous (large form of thalassemia), 2 compound heterozygous and 58 heterozygous (small form) were applied. A total of 10 thalassemic mutation was found: codon 8 (-AA) - 38%; IVS 1.110 (G> A) - 27%; 5 codon (-CT) - 7%; IVS 1.6 (T> C) and IVS 2.1 (G> A) - 6%; IVS 2.745 (C> G), IVS 1.1 (G> A) iIVS 1.5 (G> C) - 4%; codon 8 \ 9 - 3%; -101 (C> T) - 1%.
Conclusion
The most frequent mutations of the beta-globin gene in St. Petersburg were codon 8 (-AA) - 38% and IVS 1.110 (G> A) - 27%.
Session topic: E-poster
Keyword(s): Beta thalassemia
Abstract: PB2066
Type: Publication Only
Background
Beta-thalassemia - a hereditary disorders of hemoglobin synthesis, which are transmitted in an autosomal recessive inheritance. The main stage of the prevention of thalassemia is the molecular diagnosis of thalassemic mutations in the fetus conducted at 1st trimester of pregnancy. The possibility of this diagnosis is determined by the availability of data on the molecular defects of beta-globin gene in this region.
Aims
To examine the incidence of mutations of beta-globin gene in the North-West region for the development of measures for the prevention of beta-thalassemia.
Methods
Molecular diagnostic was performed at 65 patients (men - 31, women - 34, from 2 to 58 years) with a diagnosis of beta-thalassemia (minor and major), were examined and treated at The Consultative and Diagnostic Center for Children and The Russian Research Institue of Hematology and Transfusiology (Saint-Petersburg). All patients living in St. Petersburg, but have a different ethnic composition: 40% - Azerbaijanis; 33.8% - Russian, who (according to them) havn’t Caucasian or Mediterranean roots; 11.3% - Bulgarians, Cypriots; 8.7% - Dagestan; 6.2% - patients of mixed families (one parent - Russian, the other - from the Caucasus or Mediterranean). Diagnos thalassemia set on the basis of red blood cells parameters (microcytosis - the MCV <80 fl, hypochromia - MCH <27 pg, Mentzer index <11.4) and hemoglobin fractions (Hb A2> 3% and / or Hb F> 1%). The material for the study served as the venous blood. Red blood parameters were determined on the hematology analyzer Sysmex XT-4000i (Sysmex, Japan), fractions of hemoglobin investigated by capillary electrophoresis (MINICAP, Sebia, France). Mutations of the beta-globin gene was determined by reverse- hybridization of method of biotinylated multiplex-PCR products (β-GlobinStripAssay, ViennaLabDiagnostics, Austria).
Results
In examined patients 5 homozygous (large form of thalassemia), 2 compound heterozygous and 58 heterozygous (small form) were applied. A total of 10 thalassemic mutation was found: codon 8 (-AA) - 38%; IVS 1.110 (G> A) - 27%; 5 codon (-CT) - 7%; IVS 1.6 (T> C) and IVS 2.1 (G> A) - 6%; IVS 2.745 (C> G), IVS 1.1 (G> A) iIVS 1.5 (G> C) - 4%; codon 8 \ 9 - 3%; -101 (C> T) - 1%.
Conclusion
The most frequent mutations of the beta-globin gene in St. Petersburg were codon 8 (-AA) - 38% and IVS 1.110 (G> A) - 27%.
Session topic: E-poster
Keyword(s): Beta thalassemia
Type: Publication Only
Background
Beta-thalassemia - a hereditary disorders of hemoglobin synthesis, which are transmitted in an autosomal recessive inheritance. The main stage of the prevention of thalassemia is the molecular diagnosis of thalassemic mutations in the fetus conducted at 1st trimester of pregnancy. The possibility of this diagnosis is determined by the availability of data on the molecular defects of beta-globin gene in this region.
Aims
To examine the incidence of mutations of beta-globin gene in the North-West region for the development of measures for the prevention of beta-thalassemia.
Methods
Molecular diagnostic was performed at 65 patients (men - 31, women - 34, from 2 to 58 years) with a diagnosis of beta-thalassemia (minor and major), were examined and treated at The Consultative and Diagnostic Center for Children and The Russian Research Institue of Hematology and Transfusiology (Saint-Petersburg). All patients living in St. Petersburg, but have a different ethnic composition: 40% - Azerbaijanis; 33.8% - Russian, who (according to them) havn’t Caucasian or Mediterranean roots; 11.3% - Bulgarians, Cypriots; 8.7% - Dagestan; 6.2% - patients of mixed families (one parent - Russian, the other - from the Caucasus or Mediterranean). Diagnos thalassemia set on the basis of red blood cells parameters (microcytosis - the MCV <80 fl, hypochromia - MCH <27 pg, Mentzer index <11.4) and hemoglobin fractions (Hb A2> 3% and / or Hb F> 1%). The material for the study served as the venous blood. Red blood parameters were determined on the hematology analyzer Sysmex XT-4000i (Sysmex, Japan), fractions of hemoglobin investigated by capillary electrophoresis (MINICAP, Sebia, France). Mutations of the beta-globin gene was determined by reverse- hybridization of method of biotinylated multiplex-PCR products (β-GlobinStripAssay, ViennaLabDiagnostics, Austria).
Results
In examined patients 5 homozygous (large form of thalassemia), 2 compound heterozygous and 58 heterozygous (small form) were applied. A total of 10 thalassemic mutation was found: codon 8 (-AA) - 38%; IVS 1.110 (G> A) - 27%; 5 codon (-CT) - 7%; IVS 1.6 (T> C) and IVS 2.1 (G> A) - 6%; IVS 2.745 (C> G), IVS 1.1 (G> A) iIVS 1.5 (G> C) - 4%; codon 8 \ 9 - 3%; -101 (C> T) - 1%.
Conclusion
The most frequent mutations of the beta-globin gene in St. Petersburg were codon 8 (-AA) - 38% and IVS 1.110 (G> A) - 27%.
Session topic: E-poster
Keyword(s): Beta thalassemia
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