Thalassaemias and Abnormal Haemoglobins in SR Macedonia

Sadikario, A; Duma, H; Ефремов, Г. Д.; Mladenovski, B; Andreeva, M; Petkov, G.; Lazova, C.

doi:10.1159/000208846

Cited by 10 publications

(4 citation statements)

References 7 publications

(9 reference statements)

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“…Gene mapping analysis, dot-blot hybridization of polymerase chain reaction (PCR) amplified DNA with specific probes, and sequencing of the amplified DNA followed methodology described before (20)(21)(22)(23)(24). 4 …”

Section: Methodsmentioning

confidence: 99%

“…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%

“…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). This paper summarizes the results on the epidemiology and molecular basis of thalassemias and other hemoglobinopathies in the Republic of Macedonia and includes some unpublished data from the International Reference Laboratory for Hemoglobinopathies, Research Center for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia.…”

Section: Introductionmentioning

confidence: 99%

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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: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Thalassemias and Other Hemoglobinopathies in the Republic of Macedonia

Ефремов

2007

Hemoglobin

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“…Although there is no exact figure on the incidence of thalassemia in this country it has been estimated that about 2.0°/o of Yugoslavian population carries thalassemia gene [4], F raser et al [7] found an incidence of thalassemia of 7.1% among the population of Dalmatian coast and SR Macedonia. A more exact figure was obtained by Sadikario et al [12] who examined 2,700 school children from SR Macedonia and found an incidence of /(-thalassemia of 4.7%. Abnormal hemoglobins have also been found in Yugoslavia.…”

mentioning

confidence: 81%

Hemoglobin Beograd (α2β2121 Glu→Val) Interacting with β-Thalassemia

Ruvidic¹,

Gd²,

Juricić³

et al. 1975

Acta Haematol

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Hematological and biochemical findings in a family with hemoglobin (Hb) Beograd interacting with β-thalassemia are presented. Hb Beograd (α₂β₂121 Gul→Val) was found in 3 members. In two members it interacted with β-thalassemia. These two double heterozygotes had anemia of intermediate severity and splenomegaly. Studies with ⁵¹Cr and ⁵⁹Fe showed a shortened life span of red cells and ineffective erythropoiesis. The abnormal Hb amounted to 86–87%, and Hb F to 5–7%. No Hb A was present. One subject of the family was heterozygous for Hb Beograd. He showed normal clinical and hematological findings. The abnormal hemoglobin was 38%. Four members of the family were heterozygotes for β-thalassemia. The interaction between β-thalassemia and β-chain variants is discussed.

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References

2001

The Thalassaemia Syndromes

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Thalassaemias and Abnormal Haemoglobins in SR Macedonia

Cited by 10 publications

References 7 publications

Thalassemias and Other Hemoglobinopathies in the Republic of Macedonia

Thalassemias and Other Hemoglobinopathies in the Republic of Macedonia

Hemoglobin Beograd (α<sub>2</sub><i>β</i><sub>2</sub>121 Glu→Val) Interacting with <i>β</i>-Thalassemia

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