δβ ‐Thalassaemia in Two Yugoslavian Families

Ефремов, Г. Д.; Nikolov, Nikolay; Duma, H; Schroeder, W. A.; Miller, A. T.; Huisman, T. H. J.

doi:10.1111/j.1600-0609.1975.tb00321.x

Cited by 18 publications

(1 citation statement)

References 28 publications

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“…Since 1952, when the first cases of Cooley's Anemia were described in the Republic of Macedonia (1), numerous cases of this disease have been reported (2)(3)(4)(5)(6)(7)(8)(9). Over the past 40 years, population surveys for the presence of thalassemias and other hemoglobinopathies have been carried out in different parts of the country (4,(10)(11)(12)(13), and during the past 20 years the molecular basis of thalassemias and related conditions has been defined in detail (14, and this paper).…”

Section: Introductionmentioning

confidence: 99%

Thalassemias and Other Hemoglobinopathies in the Republic of Macedonia

Ефремов

2007

Hemoglobin

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This paper summarizes the results on the epidemiology and molecular basis of thalassemias and other hemoglobinopathies in the Republic of Macedonia. Over the past 40 years, population surveys of more than 22,000 participants (school children and workers) from all over the country, have shown that the average incidence of beta-thalassemia (thal) trait is 2.6%, ranging from less than 1% in the northeast to 10% in the south. The frequency of deltabeta-thal is 0.2%, while the frequency of the Swiss type of hereditary persistence of fetal hemoglobin (HPFH) is 0.3%. Screening of 9,619 newborns has shown that the frequency of alpha-thal trait is 1.5%, of which alpha-thal-2 is 1.45% and alpha-thal-1 is 0.05%. The molecular basis of the different forms of beta-thal and other hemoglobinopathies has been completely defined. Among the Macedonians, over 450 beta-thal chromosomes have been studied. Fifteen different beta-thal mutations have been detected, four of which [IVS-I-110 (G-->A), IVS-I-6 (T-->C), IVS-I-1 (G-->A), codon 39 (C-->T)] account for 85% of all beta-thal chromosomes. Among the Albanians, 48 beta-thal chromosomes have been studied. Eight different mutations have been detected, four of which [codon 39, -30 (T-->A), IVS-I-110, IVS-I-1] account for 85% of all beta-thal chromosomes. Four new mutations [-101 (C-->A), -87 (C-->G), -30, polyadenylation signal (poly A) (AATAAA-->AATGAA)] have been characterized. Molecular analyses of DNA from over 20 unrelated cases with deltabeta-thal have shown that this condition is caused by a 13 kb deletion (Sicilian type); in two families a deletion of 18 to 23 kb (Macedonian type of deltabeta-thal) was discovered. Molecular analyses of alpha-thal in the Republic of Macedonia have shown the following types of molecular defects: 20.5 kb deletion, 17.5 kb deletion, 3.7 kb deletion, poly A mutation (AATAAA-->AATGAA), and Hb Icaria [alpha142, Term-->Lys, TAA-->AAA (alpha2)]. The incidence of abnormal hemoglobins (Hbs) in the Republic of Macedonia is 0.4%. Three different alpha chain variants among 10 families, seven different beta chain variants among 33 families, two gamma chain variants in two newborns, one variant with an extended alpha chain, and Hb Lepore among 105 families, have been observed. Structural analysis of numerous cases with Hb Lepore showed that the variant was of the Washington-Boston type.

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Section: Introductionmentioning

confidence: 99%

Thalassemias and Other Hemoglobinopathies in the Republic of Macedonia

Ефремов

2007

Hemoglobin

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2001

The Thalassaemia Syndromes

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Thalassemia intermedia caused by heterozygosity for both β‐thalassemia and hemoglobin saki [β14 (a11) leu→pro]

et al. 1976

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The syndrome thalassemia intermedia can be the clinical expression of heterozygosity for different tyes of thalassemia, beta-thalassemia and hereditary persistence of fetal hemoglobin, beta-thalassemia and Hb-Lepore, and in blacks it may even represent a true beta-thalassemia homozygote. This report describes thalassemia intermedia in a white male due to beta-thalassemia and an unstable hemoglobin. Chain-synthesis studies showed an excess of alpha-chain production over beta-chain production in the propositus and his mother but balanced chain synthesis in the clinically normal father, who is heterozygous for the unstable hemoglobin. The unstable hemoglobin was found to be beta14 (A11) Leu leads to Pro, which has previously been described in a clinically normal African woman, and named Hb-Saki. This hemoglobin is not distinguishable from Hb-A on routine electrophoresis at alkaline or acid pH and tests for unstable hemoglobins are necessary for its detection. The increasing list of such hemoglobin variants and previous cases of heterozygosity for beta-thalassemia and unstable hemoglobins are reviewed.

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δβ ‐Thalassaemia in Two Yugoslavian Families

Cited by 18 publications

References 28 publications

Thalassemias and Other Hemoglobinopathies in the Republic of Macedonia

Thalassemias and Other Hemoglobinopathies in the Republic of Macedonia

References

Thalassemia intermedia caused by heterozygosity for both β‐thalassemia and hemoglobin saki [β14 (a11) leu→pro]

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