Neonatal Screening for Hemoglobinopathies: Results of a Public Health System in South Brazil

Wagner, Sandrine Comparsi; Castro, Simone Martins de; Gonzalez, Tatiana Pereira; Santin, Ana Paula; Zaleski, Carina F.; Azevedo, Laura Alencastro de; Dreau, Hélène; Henderson, Shirley; Old, John; Hutz, Mara H.

doi:10.1089/gtmb.2010.0008

Cited by 12 publications

(20 citation statements)

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“…Estudo realizado no estado do Rio Grande do Sul analisou amostras de sangue de recém-nascidos triados pelo Programa Nacional de Triagem Neonatal e mostrou que, dentre as 437.787 amostras de recém-nascidos analisadas, 6.391 apresentaram padrão de Hb anormal. Destes, 48 casos (0,01%) eram de anemia falciforme, um recém-nascido era homozigoto para a talassemia β, 6.272 (1,4%) recém-nascidos eram heterozigotos para Hb S, C ou D e 71 (0,02%) recém-nascidos eram portadores de Hb variantes raras 18 . Assim, a baixa prevalência de anemia falciforme e talassemias observada no país e no estado não poderiam justificar a alta prevalência de anemia sem DF em crianças na idade pré-escolar observada neste estudo.…”

Section: Idadeunclassified

Relationship between iron deficiency and anemia in children younger than 4 years

Bortolini¹,

Vítolo²

2010

J Pediatr (Rio J)

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Section: Idadeunclassified

Relationship between iron deficiency and anemia in children younger than 4 years

Bortolini¹,

Vítolo²

2010

J Pediatr (Rio J)

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“…The colonial mining region around Ouro Preto, Minas Gerais, concentrated 42% of 96 cases. An incidence of 1:36,500 can be deduced from the data of another study, also done in Brazil in the state of Rio Grande do Sul (16).There are no other similar reports in the international literature.…”

Section: The Incidence Of Hb Stanleyville-ii In Brazilmentioning

confidence: 87%

“…This Hb was first described in the Democratic Republic of Congo (1). There are also cases reported in other African countries (8,13,14), Europe (7,15), China (12), and Brazil (3)(4)(5)9,11,16,17).…”

mentioning

confidence: 89%

Hb Stanleyville-II [α78(EF7)Asn→Lys (α2); HbA2: c.237C>A]: Incidence of 1:11,500 in a Newborn Screening Program in Brazil

Silva

Sendin

Pimentel³

et al. 2012

Hemoglobin

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Almost 3 million babies were tested in a newborn screening program in Minas Gerais, Brazil (1998-2008); 128 who have S-like hemoglobins (Hbs) were tested for the β(S) allele and 112 were identified through polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) or sequencing. Hb Stanleyville-II [α78(EF7)Asn→Lys (α2); HbA2: c.237C>A] was present in 96 children (85.7%), two in a homozygous state and 94 in a heterozygous state. Its estimated prevalence was 1:11,500. Hbs Hasharon [α47(CE5)Asp→His, GAC>CAC (α2)], Ottawa [α15(A13)Gly→Arg (GGT>CGT) (α2 or α1)], G-Ferrara [β57(E1)Asn→Lys (AAC>AAA or AAG)], St. Luke's [α95(G2)Pro→Arg, C CG>C GG (α1)], Maputo [β47(CD6)Asp→Tyr (GAT>TAT)] and Etobicoke [α84(F5)Ser→Arg (AG C>AG G or CGC or AGA) (α2 or α1)] were also identified. Many children with Hbs Stanleyville-II and Hasharon also co-inherited the -α(3.7) thalassemia gene. African ancestry was recognized by parents of all 31 children with Hb Stanleyville-II who were interviewed. Mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) values were significantly lower in children with α-thalassemia (α-thal). We came to the conclusion that Hb Stanleyville-II is not so uncommon in Brazil and seems to have originated from the African slave trade. This study reinforces the importance of an accurate diagnosis of variants that have electrophoretic mobility similar to Hb S [β6(A3)Glu→Val, GAG>GTG] so that false diagnoses are avoided.

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“…This study also included information about 110 non-consanguineous SCD patients from Rio Grande do Sul, southern region of Brazil, screened using isoeletric focusing (IEF) and/or cation exchange high performance liquid chromatography (HPLC) and confirmed by a PCR-RFLP approach with Dde I enzyme (Wagner et al , 2010). All patients were ascertained by the Neonatal Screening Reference Service or health care centers.…”

Section: Methodsmentioning

confidence: 99%

The effects of old and recent migration waves in the distribution of HBB*S globin gene haplotypes

et al. 2016

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Sickle cell hemoglobin is the result of a mutation at the sixth amino acid position of the beta (β) globin chain. The HBB*S gene is in linkage disequilibrium with five main haplotypes in the β-globin-like gene cluster named according to their ethnic and geographic origins: Bantu (CAR), Benin (BEN), Senegal (SEN), Cameroon (CAM) and Arabian-Indian (ARAB). These haplotypes demonstrated that the sickle cell mutation arose independently at least five times in human history. The distribution of βS haplotypes among Brazilian populations showed a predominance of the CAR haplotype. American populations were clustered in two groups defined by CAR or BEN haplotype frequencies. This scenario is compatible with historical records about the slave trade in the Americas. When all world populations where the sickle cell gene occurs were analyzed, three clusters were disclosed based on CAR, BEN or ARAB haplotype predominance. These patterns may change in the next decades due to recent migrations waves. Since these haplotypes show different clinical characteristics, these recent migrations events raise the necessity to develop optimized public health programs for sickle cell disease screening and management.

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Neonatal Screening for Hemoglobinopathies: Results of a Public Health System in South Brazil

Abstract: Comparing these results with those obtained in other Brazilian regions, we observe a highly heterogeneous distribution. This knowledge is useful in healthcare planning and allocation of resources, as well as identifying at-risk couples, which will assist with disease prevention.

Cited by 12 publications

References 31 publications

Relationship between iron deficiency and anemia in children younger than 4 years

Relationship between iron deficiency and anemia in children younger than 4 years

Hb Stanleyville-II [α78(EF7)Asn→Lys (α2); HbA2: c.237C>A]: Incidence of 1:11,500 in a Newborn Screening Program in Brazil

The effects of old and recent migration waves in the distribution of HBB*S globin gene haplotypes

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