SABIIA - Sistema Aberto e Integrado de Informação em Agricultura (Sabiia)

Wenning,M.R.S.C.; Kimura,E.M.; Costa,F.F.; Saad,S.T.O.; Gervásio,S.; de Jorge,S.B.; Borges,E.; Silva,N.M.; Sonati,M.F..

Seven unrelated patients with hemoglobin (Hb) H disease and 27 individuals with alpha-chain structural alterations were studied to identify the alpha-globin gene mutations present in the population of Southeast Brazil. The -alpha3.7, --MED and -(alpha)20.5 deletions were investigated by PCR, whereas non-deletional alpha-thalassemia (alphaHphalpha, alphaNcoIalpha, aaNcoI, alphaIcalpha and alphaTSaudialpha) was screened with restriction enzymes and by nested PCR. Structural alterations were identified by direct DNA sequencing. Of the seven patients with Hb H disease, all of Italian descent, two had the -(alpha)20.5/-alpha3.7 genotype, one had the --MED/-alpha3.7 genotype, one had the --MED/alphaHphalpha genotype and...

alpha-thalassemia, HbS, and beta-globin gene cluster haplotypes in two Afro-Uruguayan sub-populations from northern and southern Uruguay

Palavras-chave: Alpha-globin genes; Alpha-globin structural variants; Alpha-thalassemia; Hemoglobin H; Hb H disease; Hemoglobin variants; Hemoglobinopathies.

Ano: 2000

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000000900008

Luz,Julio A. da; Sans,Mónica; Kimura,Elza Miyuki; Albuquerque,Dulcinéia Martins; Sonati,Maria de Fatima; Costa,Fernando Ferreira.

Hemoglobinopathies are the most common monogenic disorders worldwide; however, they have never been systematically studied from a genetic perspective in Uruguay. In this study, we determined the frequencies of hemoglobin variants in Afro-Uruguayans. A sample of 52 healthy unrelated Afro-Uruguayans from the northern (N = 28) and southern (N = 24) regions of the country was analyzed. Eight individuals (15.4%) were heterozygous for -alpha3,7thalassemia; seven of them (29.2%) were originally from the southern region, whereas one of them (3.6%) was from the northern region; the differences between both regions were statistically significant (p = 0.016 +/-0.003). The only structural mutation detected was betaS, which is typical of African populations. Four...

Frequency and spectrum of hemoglobinopathy mutations in a Uruguayan pediatric population

Palavras-chave: Hemoglobinopathies; Alpha-thalassemias; HbS; Haplotypes; Afro-derived populations.

Ano: 2006

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400002

Luz,Julio Da; Ávila,Amalia; Icasuriaga,Sandra; Gongóra,María; Castillo,Luis; Serrón,Alejandra; Kimura,Elza Miyuki; Costa,Fernando Ferreira; Sans,Mónica; Sonati,Maria de Fátima.

Hemoglobinopathies are the most common recessive diseases worldwide but their prevalence in Uruguay has not been investigated. In this study, 397 unrelated outpatient children from the Pereira Rosell Hospital Center (CHPR), as well as 31 selected patients with microcytic anemia and 28 β-thalassemia carriers were analyzed for hemoglobinopathies by using biochemical and molecular biology methods. Parametric and non-parametric methods were used to compare the hematological indices between groups of genotypes. Of the 397 patients in the first group, approximately 1% (0.76% HbS and 0.25% β-thalassemia) had a mutation in the HBB gene and 3.3% had α-thalassemia. These mutations had a heterogeneous distribution that varied according to individual ancestry. HbS was...

High prevalence of alpha-thalassemia among individuals with microcytosis and hypochromia without anemia

Palavras-chave: Alpha-globin; Beta-globin; Hemoglobinopathies; Uruguayan population.

Ano: 2013

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000300003

Borges,E.; Wenning,M.R.S.C.; Kimura,E.M.; Gervásio,S.A.; Costa,F.F.; Sonati,M.F..

In order to determine the contribution of alpha-thalassemia to microcytosis and hypochromia, 339 adult outpatients seen at Unicamp University Hospital (with the exception of the Clinical Hematology outpatient clinics), who showed normal hemoglobin (Hb) levels and reduced mean corpuscular volume and mean corpuscular hemoglobin, were analyzed. Ninety-eight were Blacks (28.9%) and 241 were Caucasians (71.1%). In all cases, Hb A2 and F levels were either normal or low. The most common deletional and nondeletional forms of alpha-thalassemia [-alpha3.7, -alpha4.2, --MED, -(alpha)20.5, alphaHphIalpha, alphaNcoIalpha, aaNcoI and alphaTSAUDI] were investigated by PCR and restriction enzyme analyses. A total of 169 individuals...

Prevalence of βS-globin gene haplotypes, α-thalassemia (3.7 kb deletion) and redox status in patients with sickle cell anemia in the state of Paraná, Brazil

Palavras-chave: Alpha-thalassemia; Microcytosis; Hypochromia; Hemoglobinopathies; Brazilian population.

Ano: 2001

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2001000600009

Shimauti,Eliana LitsukoTomimatsu; Silva,Danilo Grunig Humberto; Souza,Eniuce Menezes de; Almeida,Eduardo Alves de; Leal,Francismar Prestes; Bonini-Domingos,Claudia Regina.

The aim of this study was to determine the frequency of beta S-globin gene (βS globin) haplotypes and alpha thalassemia with 3.7 kb deletion (−α3.7kb thalassemia) in the northwest region of Paraná state, and to investigate the oxidative and clinical-hematological profile of βS globin carriers in this population. Of the 77 samples analyzed, 17 were Hb SS, 30 were Hb AS and 30 were Hb AA. The βSglobin haplotypes and −α3.7kb thalassemia were identified using polymerase chain reaction.Trolox equivalent antioxidant capacity (TEAC) and lipid peroxidation (LPO) were assessed spectophotometrically. Serum melatonin levels were determined using high-performance liquid chromatography coupled to coulometric electrochemical detection. The haplotype frequencies in the...

Screening for mutations in human alpha-globin genes by nonradioactive single-strand conformation polymorphism

Palavras-chave: Antioxidants; Hemoglobinopathies; Melatonin; Sickle cell disease; Thalassemia.

Ano: 2015

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000300316

Thalassemia intermedia as a result of heterozygosis for ß0-thalassemia and aaaanti-3.7/aa genotype in a Brazilian patient

Jorge,S.B.; Melo,M.B.; Costa,F.F.; Sonati,M.F..

Point mutations and small insertions or deletions in the human alpha-globin genes may produce alpha-chain structural variants and alpha-thalassemia. Mutations can be detected either by direct DNA sequencing or by screening methods, which select the mutated exon for sequencing. Although small (about 1 kb, 3 exons and 2 introns), the alpha-globin genes are duplicate (alpha2 and alpha1) and highy G-C rich, which makes them difficult to denature, reducing sequencing efficiency and causing frequent artifacts. We modified some conditions for PCR and electrophoresis in order to detect mutations in these genes employing nonradioactive single-strand conformation polymorphism (SSCP). Primers previously described by other authors for radioactive SSCP and phast-SSCP...

Tipo: Info:eu-repo/semantics/other

Palavras-chave: Alpha-globin genes; Nonradioactive SSCP; Alpha-globin structural variants; Hemoglobinopathies; Mutation screening.

Ano: 2003

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003001100004

β-globin haplotypes in normal and hemoglobinopathic individuals from Reconcavo Baiano, State of Bahia, Brazil

Kimura,E.M.; Grignoli,C.R.E.; Pinheiro,V.R.P.; Costa,F.F.; Sonati,M.F..

We report a case in which the interaction of heterozygosis for both the ß0-IVS-II-1 (G->A) mutation and the aaaanti-3.7 allele was the probable cause for the clinical occurrence of thalassemia intermedia. The propositus, a 6-year-old Caucasian Brazilian boy of Portuguese descent, showed a moderately severe chronic anemia in spite of having the ß-thalassemia trait. Investigation of the alpha-globin gene status revealed heterozygosis for alpha-gene triplication (aaa/aa). The patient's father, also presenting mild microcytic and hypochromic anemia, had the same alpha and ß genotypes as his son, while the mother, not related to the father and...

Tipo: Info:eu-repo/semantics/other

Palavras-chave: SS-Thalassemia; Thalassemia intermedia; Triplicated alpha-globin genes; Hemoglobinopathies.

Ano: 2003

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003000600003

Silva,Wellington dos Santos; Klautau-Guimarães,Maria de Nazaré; Grisolia,Cesar Koppe.

Five restriction site polymorphisms in the β-globin gene cluster (HincII-5'ε, HindIII-Gγ, HindIII-ªγ, HincII-'ψβ1 and HincII-3''ψβ1) were analyzed in three populations (n = 114) from Reconcavo Baiano, State of Bahia, Brazil. The groups included two urban populations from the towns of Cachoeira and Maragojipe and one rural Afro-descendant population, known as the "quilombo community", from Cachoeira municipality. The number of haplotypes found in the populations ranged from 10 to 13, which indicated higher diversity than in the parental populations. The haplotypes 2 (+----),3(----+),4(-+--+)and6(-++-+)onthe βA chromosomes were the most common, and two haplotypes, 9 (-++++)and 14 (++--+), were found exclusively in the Maragojipe population. The other...