Hereditary anaemias in Portugal: epidemiology, public health significance, and control.

Martins, M C; Olim, Gabriel; Melo, Josefa; Magalhães, Hugo; Rodrigues, M O

doi:10.1136/jmg.30.3.235

Cited by 29 publications

(32 citation statements)

References 7 publications

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“…Following a study of prevalence of G6PD deficiency in the universal male conscription for military service in Portugal (n ϭ 13785), Martins et al found a prevalence of 0.51 Ϯ 0.109 (5). The frequency of G6PD deficiency-conferring genes in the male population of Portugal determined by our study is 0.39 (Table 5).…”

Section: Resultssupporting

confidence: 57%

“…The G6PD AϪ mutation is present in the north, center and south. The predominance of mutations in genes G6PD A 376 A 3 G FokI (ϩ) in Portugal, 75.7% (25/33), is most likely the consequence of the past miscegenation between the Negroid and Caucasoid groups as previously described for sickle cell anemia (5,19,20).…”

Section: Tablementioning

confidence: 54%

“…All blood samples collected in tubes containing EDTA as anticoagulant were screened using the NADP reduction fluorescent method thereby affording the identification of the G6PD-deficient males (5,6).…”

Section: Laboratorymentioning

confidence: 99%

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Glucose-6-phosphate Dehydrogenase Deficiency in Portugal: Biochemical and Mutational Profiles, Heterogeneity, and Haplotype Association

Rodrigues

Freire²,

Martins

et al. 2002

Blood Cells, Molecules, and Diseases

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Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. This deficiency in erythrocytes has a prevalence of 0.51 Ϯ 0.109 in the Caucasoid male population of Portugal. The frequency for deficiency-conferring genes is 0.39% in the Portuguese population. In the herein study populations males from areas of Portugal presenting with the highest prevalence of G6PD deficiency (Castelo Branco, Setúbal, Faro, and Lisbon) as well as similar subjects located in the border Center/North area of the country (Viseu) have been analyzed for biochemical parameters and screened for mutations and haplotypeassociated mutations commensurate with G6PD deficiency. Six intragenic restriction fragment length polymorphisms (RFLPs) were studied: exon 5, nt 376 A 3 G, FokI; intron 5, nt 611 C 3 G, PvuII; intron 8, nt 163 C 3 T, BspHI; exon 10, nt 116 G 3 A, PstI; exon 11, nt 1311 C 3 T, BclI; and intron 11, nt 93 T 3 C, NlaIII. New haplotypes were constructed with the inclusion of intron 11, nt 93 T 3 C, NlaIII, and only 5 of 64 possible haplotypes were found to show a marked linkage disequilibrium for several RFLPs and also for mutations and specific haplotypes. The control population (n ϭ 168 males) presented the G6PD B variant and corresponded to haplotypes I (Ϫ Ϫ ϩ ϩ Ϫ Ϫ), Ia (Ϫ Ϫ ϩ ϩ Ϫ ϩ), and VIIa (Ϫ Ϫ ϩ ϩ ϩ ϩ), in 91.8, 2.3, and 5.9%, respectively. The PCR and sequencing analysis of extracted DNAs from the deficient G6PD group showed 48.6% (16/33) of individuals with the G6PD AϪ mutation, corresponding to haplotype VIa (ϩ ϩ Ϫ ϩ Ϫ ϩ); 9% (3/33) with the Betica mutation and 18% (6/33) with the Santa Maria mutation, both of them associated with haplotype IVa (ϩ Ϫ Ϫ ϩ Ϫ ϩ); 6.1% (2/33) with the Mediterranean mutation associated with haplotype VIIa; 12.3% (4/33) with the Seattle mutation, 3.0% (1/33) with Gaohe mutation; and a new mutation, 3.0% (1/33), which we designated by G6PD Flores, all of them associated with haplotype I. © 2002 Elsevier Science (USA)

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Section: Resultssupporting

confidence: 57%

Section: Tablementioning

confidence: 54%

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Glucose-6-phosphate Dehydrogenase Deficiency in Portugal: Biochemical and Mutational Profiles, Heterogeneity, and Haplotype Association

Rodrigues

Freire²,

Martins

et al. 2002

Blood Cells, Molecules, and Diseases

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“…Due to the geographic heterogeneity of C282Y mutation in Portugal (Cardoso et al 2001), and being that the beta-thalassemia trait is more frequent in the southern part of the country (Martins et al 1993), all individuals studied were of southern Portugal origin. Diagnosis of the beta-thalassemia trait was defined by low mean corpuscular volume (MCV <80 fl), low mean corpuscular hemoglobin (MCH <27 pg), and increased HbA2 (>3.5%).…”

Section: Subjectsmentioning

confidence: 99%

“…The beta-thalassemia trait, moderately common in the southern Portugal population (Martins et al 1993), is characterized by mild, ineffective erythropoiesis that can induce excess iron absorption and ultimately lead to iron overload (Weatherall and Clegg 1981). Since only a minority of patients develop iron overload, the hypothesis that genetic modifiers may be related to this phenotypic variability has been set Weatherall 2001).…”

Section: Introductionmentioning

confidence: 99%

The role of HFE mutations on iron metabolism in beta-thalassemia carriers

et al. 2004

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Hereditary hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism characterized by increased iron absorption and progressive storage resulting in organ damage. HFE gene mutations C282Y and H63D are responsible for the majority of HH cases. A third HFE mutation, S65C, has been associated with the development of a mild form of hemochromatosis. The beta-thalassemia trait is characterized by mild, ineffective erythropoiesis that can induce excess iron absorption and ultimately lead to iron overload. The aim of this study was to evaluate the effect of genetic markers (HFE mutations C282Y, H63D, and S65C) on the iron status of beta-thalassemia carriers. A total of 101 individuals heterozygous for beta-thalassemia and 101 normal control individuals were studied. The allelic frequencies of C282Y (1.5 versus 3.5%), H63D (15.3 versus 18.3%), and S65C (1.0 versus 1.5%) did not differ significantly between beta-thalassemia carriers and normal controls. Serum iron (P=0.029) and transferrin saturation (P=0.009) were increased in betathalassemia carriers heterozygous for H63D mutation. The number of subjects carrying C282Y or S65C mutations was too low to conclude their effect on the iron status. These results suggest that the beta-thalassemia trait tends to be aggravated with the coinheritance of H63D mutation, even when present in heterozygosity.

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Fetal hemoglobin elevation in Hb lepore heterozygotes and its correlation with β globin cluster linked determinants

et al. 2002

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We have analysed, at the hematological and molecular level, 51 Hb lepore heterozygotes and three compound heterozygotes for Hb Lepore and HbS (HbLep/HbS) in 26 unselected Portuguese families. The Lepore Boston variant was present in one family, in association with classical haplotype V. All of the other Lepore alleles present haplotype III in association with XmnI (+)5′ of Gγ gene, in tight linkage disequilibrium to the major mutation found in the Portuguese population, the Lepore Baltimore variant ( δ68Leu‐β84Thr). The three compound heterozygotes are the first HbLep/HbS individuals reported in the literature, with the Lepore Baltimore mutation linked to haplotype III. In agreement with other studies, these Lepore Baltimore heterozygotes have higher HbF (1.4–14.1% of total hemoglobin) than published cases of Lepore Boston (0.8–5.4%), which is associated with XmnI(–). Among the Lepore Baltimore heterozygotes, the (AT)xTy repeat region at –540 bp of the β globin gene in trans to the Lepore chromosome, can account for much of the variability in HbF level. The allele (AT)7T7 is associated with lower HbF, and (AT)9T5 is associated with higher HbF. As we previously reported for β thalassemic carriers, we observe in Lepore Baltimore carriers an effector in trans, linked to the (AT)xTy sequence, acting as an HPFH (Hereditary Persistence of Fetal Hemoglobin) determinant. Am. J. Hematol. 69:95–102, 2002. © 2002 Wiley‐Liss, Inc.

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Hereditary anaemias in Portugal: epidemiology, public health significance, and control.

Cited by 29 publications

References 7 publications

Glucose-6-phosphate Dehydrogenase Deficiency in Portugal: Biochemical and Mutational Profiles, Heterogeneity, and Haplotype Association

Glucose-6-phosphate Dehydrogenase Deficiency in Portugal: Biochemical and Mutational Profiles, Heterogeneity, and Haplotype Association

The role of HFE mutations on iron metabolism in beta-thalassemia carriers

Fetal hemoglobin elevation in Hb lepore heterozygotes and its correlation with β globin cluster linked determinants

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