Distribution of HFE C282Y and H63D mutations in the Balearic Islands (NE Spain)

Guix, P; Picornell, A.; M, Parera; Galmés, Antonio; Obrador, Antoni; Ramon, Meike; Castro, José A.

doi:10.1034/j.1399-0004.2002.610109.x

Cited by 20 publications

(13 citation statements)

References 30 publications

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“…The frequency of H63D homozygotes in patients (7.7%) was significantly higher ( P < 0.005) than in a control group (1.6%) from the same area (22) (Table 4). The patients studied were 14 males (58%) and 10 women (42%).…”

Section: Resultsmentioning

confidence: 87%

“…On the Island of Majorca, the H63D allelic frequency is 19.5% and the observed H63D homozygotes were 1.6% (22). However, the frequency of H63D homozygotes in the patients studied with altered iron metabolism (7.7%) was clearly higher than in the control group.…”

Section: Discussionmentioning

confidence: 93%

“…In Spanish populations, high H63D frequencies are found (>15%), and in Chuetas and Basques, two genetically singular Spanish populations, the frequencies reach even higher values, almost 30% (3, 22, 38). Therefore, in Spanish populations a high number of H63D homozygotes are expected.…”

Section: Discussionmentioning

confidence: 97%

“…Guix et al (22) studied the distribution of the HFE C282Y and H63D mutations in Chuetas. H63D mutation was the only one observed, and its allelic frequency has been one of the highest frequencies (26.6%) described to date.…”

Section: Introductionmentioning

confidence: 99%

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Prevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity

et al. 2006

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The frequencies of C282Y and H63D mutations of the HFE gene vary between different populations. A previous study showed an unexpectedly high H63D frequency in Chuetas (a population of Jewish descent). The present study addressed the question of the distribution of these mutations in Jewish populations from different origins and studied the possible causes of the high H63D frequency in Chuetas. Moreover, to improve the understanding of the controversial relationship between H63D homozygosity and iron overload, a group of patients with altered iron metabolism were studied. The high frequency of H63D mutation in Chuetas is not due to a high prevalence of this mutation in Sephardic Jews. Jewish populations have low C282Y and moderate H63D frequencies, suggesting slight gene flow from their surrounding populations. In accordance with historical and demographic data, genetic drift is the most probable cause for the singular H63D frequency in Chuetas. Clinically, this study of H63D homozygotes supports the conclusion that this genotype must be taken into account, because it confers an increased risk of iron overload and therefore genetic susceptibility to developing hereditary hemochromatosis or to aggravating other diseases.

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Section: Resultsmentioning

confidence: 87%

Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

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Prevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity

et al. 2006

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“…Genetic studies (5,6) show differences between the three islands and the Ibizan population, probably because of the Phoenician-Carthaginian origin of the first settlers and to genetic drift. Genetic studies (5,6) show differences between the three islands and the Ibizan population, probably because of the Phoenician-Carthaginian origin of the first settlers and to genetic drift.…”

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confidence: 99%

Balearic archipelago: three islands, three beta‐thalassemia population patterns

López-Escribano¹,

Parera²,

Guix³

et al. 2012

Clinical Genetics

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López‐Escribano H, Parera MM, Guix P, Serra JM, Gutierrez A, Balsells D, Oliva‐Berini E, Castro JA, Ramon MM, Picornell A. Balearic archipelago: three islands, three beta‐thalassemia population patterns. The mutation spectrum of 175 β‐thalassemia (β‐thal) carriers, identified in pilot carrier screening on 22,713 individuals from Balearic Islands (Spain), is reported. The β0 CD39 (C>T) mutation is the most frequent (61.1%), followed by β+ IVS‐I‐110 (G>A) (12.0%), β+ IVS‐I‐6 (T>C) and β0 IVS‐1‐1 (G>A) (3.4% both) and eight other rare mutations (2.9–0.6%); with a distinct prevalence and distribution between islands. Minorca shows the highest prevalence in Iberian populations, with a single mutation, CD39 (C>T), present in most β‐thal carriers. Ibiza is the only Western Mediterranean population where the most frequent β‐thal mutation is IVS‐I‐110 (G>A). These results can be explained by a combination of historical–demographic characteristics together with evolutionary forces such as founder effect, genetic drift and probably selection by malaria. Knowledge of the mutational spectrum in the Balearic Islands will enable to optimize mutation detection strategy for genetic diagnosis of β‐thal in these islands.

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