Diagnóstico de hemoglobinopatías a partir de sangre del talón de recién nacidos en diferentes centros hospitalarios de Venezuela

Giménez, Oscar; Torrealba, Mariela; Urquiola, Martha Bravo; Ortiz, Gastón; Fonseca, S. Montilla; Merzón, Rosa María; Donato, Marcos De; Castillo, O.; Pérez, Armando

doi:10.1016/j.anpedi.2009.07.005

Cited by 4 publications

(1 citation statement)

References 25 publications

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“…[17][18][19] La alfa-talasemia es la forma más frecuente, debida a la deleción de genes de globina. 8,[20][21][22][23] Por su parte, la deficiencia de G6PD corresponde a un defecto enzimático y está presente en más de 400 millones de personas en todo el mundo. 9,24 Es una enfermedad hereditaria ligada al cromosoma X, de la cual se han descrito alrededor de 140 mutaciones.…”

Section: Introductionunclassified

Prevalencia de anemias hemolíticas hereditarias detectadas por tamiz metabólico ampliado en los servicios de salud de Petróleos Mexicanos

Hernández-Verdugo,

Fernández-Bautista,

Domínguez-Camacho

et al. 2023

Revista Mexicana De Pediatría

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Section: Introductionunclassified

Prevalencia de anemias hemolíticas hereditarias detectadas por tamiz metabólico ampliado en los servicios de salud de Petróleos Mexicanos

Hernández-Verdugo,

Fernández-Bautista,

Domínguez-Camacho

et al. 2023

Revista Mexicana De Pediatría

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Sickle cell in sickle cell disease in Latin America and the United States

Huttle

Maestre

Lantigua

et al. 2015

Pediatric Blood & Cancer

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Latin Americans are an underappreciated population affected by sickle cell disease (SCD). Sickle trait and SCD exist throughout Latin America and U.S. Latino communities. We describe the epidemiology and genetic heterogeneity of SCD among Latin Americans, and fetal hemoglobin expression. National population-based newborn screening for SCD is limited to Brazil, Costa Rica, and the U.S. Available and extrapolated data suggest that over 6,000 annual births and 100,000-150,000 Latin Americans are affected by SCD. This comprehensive review highlights the substantial numbers and population distribution of SCD and sickle trait in Latin America, and where national newborn screening programs for SCD exist.

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Molecular Spectrum of β-Thalassemia Mutations in the admixed Venezuelan population, and their linkage to β-Globin Gene Haplotypes

et al. 2012

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In order to establish the spectrum of β-thalassemia (β-thal) mutations in the Venezuelan population for the first time, 127 unrelated subjects either with a suspicion of β-thal trait or with a clinically recognized β-thal syndrome of different degrees of severity, were studied. DNA from these subjects was analyzed by a polymerase chain reaction (PCR)-based reverse dot-blot method or amplification refractory mutation system (ARMS). Prototype β-globin gene sequencing of relevant DNA was performed to confirm the mutations. Fifteen different mutations were identified accounting for 92.0% of the mutant alleles explored, revealing a significant genetic heterogeneity at the β-globin gene locus in this population. The most frequent mutations were codon 39 (C >T) 34.1%, IVS-I-1 (G >A) 11.1%, IVS-I-6 (T > C) 6.6%, IVS-I-110 (G >A) 6.6%, IVS-II-849 (A >G) 6.6%, -88 (C >T) 6.0%, -29 (A >G) 5.2%, followed by the less common IVS-I-5 (G >A) 3.7%, the 1,393 bp deletion 3.0%, IVS-II-1 (G >A) 3.0%, -86 (C >G) 2.2%, IVS-II-1 (G >T) 1.5%, codons 41/42 (-TCTT) 1.5%, IVS-II-745 (C >G) 0.7% and deletional δβ-thal 0.7%. Overall, these data demonstrate that the major sources of β-thal alleles in Venezuela, as expected, are of Mediterranean and African origins. This is the first large study defining the molecular spectrum of β-thal in the highly admixed population of Venezuela and lays the foundation for genetic counseling as well as implementing comprehensive clinical care programs. Diversity of haplotypes associated with some of the β-thal mutations can be explained by in situ recombination events in Venezuela.

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Diagnóstico de hemoglobinopatías a partir de sangre del talón de recién nacidos en diferentes centros hospitalarios de Venezuela

Cited by 4 publications

References 25 publications

Prevalencia de anemias hemolíticas hereditarias detectadas por tamiz metabólico ampliado en los servicios de salud de Petróleos Mexicanos

Prevalencia de anemias hemolíticas hereditarias detectadas por tamiz metabólico ampliado en los servicios de salud de Petróleos Mexicanos

Sickle cell in sickle cell disease in Latin America and the United States

Molecular Spectrum of β-Thalassemia Mutations in the admixed Venezuelan population, and their linkage to β-Globin Gene Haplotypes

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