βthalassemia in Bulgaria

G. H. Petkov, G. D. Efremov, D. G. Efremov, A. Dimovski, P. Tchaicarova, R. Tchaicarov, B. Rogina, S. Agarwal, Abdullah Kutlar, Ferdane Kutlar, A. L. Reese, T. A. Stoning, T. H.J. Huisman

Research output: Contribution to journalArticle

29 Citations (Scopus)

Abstract

Analyses of DNA from 64 patients with thalassemia major using the hybridization technique of amplified DNA with radiolabeled synthetic oligonucleotide probes identified 13 different βthalassemia mutations (Table I). the codon 39 (C {right arrow, tailed} T) and IVS-I-110 (G {right arrow, tailed} A) mutations occurred most frequently but seven additional mutations were observed which were present at frequencies of 3.9 to 10.2% This broad spectrum of βthalassemia alleles complicates the analyses for institutions involved in prenatal diagnosis. Promoter mutations were rare and the frequencies of two other mild mutations [IVS-I-6 (T {right arrow, tailed} C) and the poly A mutation] were relatively low indicating that βthalassemia is a severe disease among Bulgarians. the high frequencies of 4.7-5.5% for the four frameshifts at codons 5, 6, 8, and 8/9 may be specific for this population.

Original languageEnglish (US)
Pages (from-to)25-33
Number of pages9
JournalHemoglobin
Volume14
Issue number1
DOIs
StatePublished - Jan 1 1990

Fingerprint

Bulgaria
Thalassemia
Mutation
Oligonucleotide Probes
DNA
Codon
beta-Thalassemia
Prenatal Diagnosis
Alleles
Population
poly(A-C)

ASJC Scopus subject areas

  • Hematology
  • Genetics(clinical)
  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Petkov, G. H., Efremov, G. D., Efremov, D. G., Dimovski, A., Tchaicarova, P., Tchaicarov, R., ... Huisman, T. H. J. (1990). βthalassemia in Bulgaria. Hemoglobin, 14(1), 25-33. https://doi.org/10.3109/03630269009002252

βthalassemia in Bulgaria. / Petkov, G. H.; Efremov, G. D.; Efremov, D. G.; Dimovski, A.; Tchaicarova, P.; Tchaicarov, R.; Rogina, B.; Agarwal, S.; Kutlar, Abdullah; Kutlar, Ferdane; Reese, A. L.; Stoning, T. A.; Huisman, T. H.J.

In: Hemoglobin, Vol. 14, No. 1, 01.01.1990, p. 25-33.

Research output: Contribution to journalArticle

Petkov, GH, Efremov, GD, Efremov, DG, Dimovski, A, Tchaicarova, P, Tchaicarov, R, Rogina, B, Agarwal, S, Kutlar, A, Kutlar, F, Reese, AL, Stoning, TA & Huisman, THJ 1990, 'βthalassemia in Bulgaria', Hemoglobin, vol. 14, no. 1, pp. 25-33. https://doi.org/10.3109/03630269009002252
Petkov GH, Efremov GD, Efremov DG, Dimovski A, Tchaicarova P, Tchaicarov R et al. βthalassemia in Bulgaria. Hemoglobin. 1990 Jan 1;14(1):25-33. https://doi.org/10.3109/03630269009002252
Petkov, G. H. ; Efremov, G. D. ; Efremov, D. G. ; Dimovski, A. ; Tchaicarova, P. ; Tchaicarov, R. ; Rogina, B. ; Agarwal, S. ; Kutlar, Abdullah ; Kutlar, Ferdane ; Reese, A. L. ; Stoning, T. A. ; Huisman, T. H.J. / βthalassemia in Bulgaria. In: Hemoglobin. 1990 ; Vol. 14, No. 1. pp. 25-33.
@article{a6636a7c041042f69fcc6e29d3381929,
title = "βthalassemia in Bulgaria",
abstract = "Analyses of DNA from 64 patients with thalassemia major using the hybridization technique of amplified DNA with radiolabeled synthetic oligonucleotide probes identified 13 different βthalassemia mutations (Table I). the codon 39 (C {right arrow, tailed} T) and IVS-I-110 (G {right arrow, tailed} A) mutations occurred most frequently but seven additional mutations were observed which were present at frequencies of 3.9 to 10.2{\%} This broad spectrum of βthalassemia alleles complicates the analyses for institutions involved in prenatal diagnosis. Promoter mutations were rare and the frequencies of two other mild mutations [IVS-I-6 (T {right arrow, tailed} C) and the poly A mutation] were relatively low indicating that βthalassemia is a severe disease among Bulgarians. the high frequencies of 4.7-5.5{\%} for the four frameshifts at codons 5, 6, 8, and 8/9 may be specific for this population.",
author = "Petkov, {G. H.} and Efremov, {G. D.} and Efremov, {D. G.} and A. Dimovski and P. Tchaicarova and R. Tchaicarov and B. Rogina and S. Agarwal and Abdullah Kutlar and Ferdane Kutlar and Reese, {A. L.} and Stoning, {T. A.} and Huisman, {T. H.J.}",
year = "1990",
month = "1",
day = "1",
doi = "10.3109/03630269009002252",
language = "English (US)",
volume = "14",
pages = "25--33",
journal = "Hemoglobin",
issn = "0363-0269",
publisher = "Informa Healthcare",
number = "1",

}

TY - JOUR

T1 - βthalassemia in Bulgaria

AU - Petkov, G. H.

AU - Efremov, G. D.

AU - Efremov, D. G.

AU - Dimovski, A.

AU - Tchaicarova, P.

AU - Tchaicarov, R.

AU - Rogina, B.

AU - Agarwal, S.

AU - Kutlar, Abdullah

AU - Kutlar, Ferdane

AU - Reese, A. L.

AU - Stoning, T. A.

AU - Huisman, T. H.J.

PY - 1990/1/1

Y1 - 1990/1/1

N2 - Analyses of DNA from 64 patients with thalassemia major using the hybridization technique of amplified DNA with radiolabeled synthetic oligonucleotide probes identified 13 different βthalassemia mutations (Table I). the codon 39 (C {right arrow, tailed} T) and IVS-I-110 (G {right arrow, tailed} A) mutations occurred most frequently but seven additional mutations were observed which were present at frequencies of 3.9 to 10.2% This broad spectrum of βthalassemia alleles complicates the analyses for institutions involved in prenatal diagnosis. Promoter mutations were rare and the frequencies of two other mild mutations [IVS-I-6 (T {right arrow, tailed} C) and the poly A mutation] were relatively low indicating that βthalassemia is a severe disease among Bulgarians. the high frequencies of 4.7-5.5% for the four frameshifts at codons 5, 6, 8, and 8/9 may be specific for this population.

AB - Analyses of DNA from 64 patients with thalassemia major using the hybridization technique of amplified DNA with radiolabeled synthetic oligonucleotide probes identified 13 different βthalassemia mutations (Table I). the codon 39 (C {right arrow, tailed} T) and IVS-I-110 (G {right arrow, tailed} A) mutations occurred most frequently but seven additional mutations were observed which were present at frequencies of 3.9 to 10.2% This broad spectrum of βthalassemia alleles complicates the analyses for institutions involved in prenatal diagnosis. Promoter mutations were rare and the frequencies of two other mild mutations [IVS-I-6 (T {right arrow, tailed} C) and the poly A mutation] were relatively low indicating that βthalassemia is a severe disease among Bulgarians. the high frequencies of 4.7-5.5% for the four frameshifts at codons 5, 6, 8, and 8/9 may be specific for this population.

UR - http://www.scopus.com/inward/record.url?scp=0025298523&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0025298523&partnerID=8YFLogxK

U2 - 10.3109/03630269009002252

DO - 10.3109/03630269009002252

M3 - Article

C2 - 2200762

AN - SCOPUS:0025298523

VL - 14

SP - 25

EP - 33

JO - Hemoglobin

JF - Hemoglobin

SN - 0363-0269

IS - 1

ER -