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| Adorno,Elisângela Vitória; Zanette,Ângela; Lyra,Isa; Seixas,Magda Oliveira; Reis,Mitermayer Galvão; Gonçalves,Marilda Souza. |
| Beta S-globin gene (βS-globin) haplotypes, markers for severe sickle cell anemia (SCA), and the alpha-thalassemia 2 gene 3.7 kb deletion (-α2(3.7 kb) thal) along with demographic and clinical data were investigated in SCA outpatients (n = 125, 63 female and 62 male) in the Brazilian state of Bahia, which has a high prevalence SCA. PCR-RFLP showed that the Central African Republic/Benin (CAR/BEN, 51.2%) haplotype was most frequent, followed by the Benin/Benin (Ben/Ben, 28.8%). At least one CAR haplotype was present in every outpatient with a history of cerebrovascular accident. The Cameroon (Cam), Senegal (Sen) and Arab-India haplotypes occurred in small numbers, as did atypical haplotypes. Fetal hemoglobin (HbF, %) was unevenly distributed. Compared to... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Alpha-thalassemia 2 gene 3.7 kb deletion (-α23.7 kb thal); ΒS-globin gene haplotypes; Fetal hemoglobin. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000400003 |
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| Pardini,V.C.; Victória,I.M.N.; Pieroni,F.B.; Milagres,G.; Nascimento,P.D.; Velho,G.; Purisch,S.; Pardini,H.. |
| We have investigated the relationship between fetal hemoglobin (HbF) levels and metabolic control in subjects with insulin-dependent (N = 79) and non-insulin-dependent diabetes mellitus (N = 242). HbF and hemoglobin A1c (HbA1c) levels were increased in subjects with type 1 and type 2 diabetes as compared to levels in nondiabetic individuals (P<0.0001), and were significantly higher in type 1 than in type 2 diabetes subjects. Lower levels of HbA1c and HbF were observed in type 2 diabetes subjects treated by diet, intermediate levels in those treated with oral hypoglycemic agents, and higher levels in those treated with insulin. HbF and HbA1c levels were correlated in type 1 diabetes (R2 = 0.57, P<0.0001) and type 2 diabetes (R2 = 0.58,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Fetal hemoglobin; HbA1c; Glycated hemoglobin; Diabetes mellitus; Type 1 diabetes; Type 2 diabetes. |
| Ano: 1999 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1999000600005 |
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| Barbosa,C.G.; Goncalves-Santos,N.J.; Souza-Ribeiro,S.B.; Moura-Neto,J.P.; Takahashi,D.; Silva,D.O.; Hurtado-Guerrero,A.F.; Reis,M.G.; Goncalves,M.S.. |
| Fetal hemoglobin (HbF), encoded by the HBG2 and HBG1 genes, is the best-known genetic modulator of sickle cell anemia, varying dramatically in concentration in the blood of these patients. This variation is partially associated with polymorphisms located in the promoter region of the HBG2 and HBG1 genes. In order to explore known and unknown polymorphisms in these genes, the sequences of their promoter regions were screened in sickle cell anemia patients and correlated with both their HbF levels and their βS-globin haplotypes. Additionally, the sequences were compared with genes from 2 healthy groups, a reference one (N = 104) and an Afro-descendant one (N = 98), to identify polymorphisms linked to the ethnic background.The reference group was composed by... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Fetal hemoglobin; Sickle cell anemia; HBG1 gene; HBG2 gene. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000800002 |
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| Adorno,E.V.; Moura-Neto,J.P.; Lyra,I.; Zanette,A.; Santos,L.F.O.; Seixas,M.O.; Reis,M.G.; Goncalves,M.S.. |
| The fetal hemoglobin (HbF) levels and ßS-globin gene haplotypes of 125 sickle cell anemia patients from Brazil were investigated. We sequenced the Gg- and Ag-globin gene promoters and the DNase I-2 hypersensitive sites in the locus control regions (HS2-LCR) of patients with HbF level disparities as compared to their ßS haplotypes. Sixty-four (51.2%) patients had CAR/Ben genotype; 36 (28.8%) Ben/Ben; 18 (14.4%) CAR/CAR; 2 (1.6%) CAR/Atypical; 2 (1.6%) Ben/Cam; 1 (0.8%) CAR/Cam; 1 (0.8%) CAR/Arab-Indian, and 1 (0.8%) Sen/Atypical. The HS2-LCR sequence analyses demonstrated a c.-10.677G>A change in patients with the Ben haplotype and high HbF levels. The Gg gene promoter sequence analyses showed a c.-157T>C substitution shared by all patients, and a... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Fetal hemoglobin; Sickle cell anemia; SSS-globin gene haplotypes; Locus control region; G-globin promoter. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000200003 |
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| Gonçalves,M.S.; Bomfim,G.C.; Maciel,E.; Cerqueira,I.; Lyra,I.; Zanette,A.; Bomfim,G.; Adorno,E.V.; Albuquerque,A.L.; Pontes,A.; Dupuit,M.F.; Fernandes,G.B.; Reis,M.G. dos. |
| ßS-Globin haplotypes were studied in 80 (160 ßS chromosomes) sickle cell disease patients from Salvador, Brazil, a city with a large population of African origin resulting from the slave trade from Western Africa, mainly from the Bay of Benin. Hematological and hemoglobin analyses were carried out by standard methods. The ßS-haplotypes were determined by PCR and dot-blot techniques. A total of 77 (48.1%) chromosomes were characterized as Central African Republic (CAR) haplotype, 73 (45.6%) as Benin (BEN), 1 (0.63%) as Senegal (SEN), and 9 (5.63%) as atypical (Atp). Genotype was CAR/CAR in 17 (21.3%) patients, BEN/BEN in 17 (21.3%), CAR/BEN in 37 (46.3%), BEN/SEN in 1 (1.25%), BEN/Atp in 1 (1.25%), CAR/Atp in 6 (7.5%), and Atp/Atp in 1 (1.25%). Hemoglobin... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Beta(S)-haplotypes; Fetal hemoglobin; Sickle cell anemia; S hemoglobin; Brazilian population. |
| Ano: 2003 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003001000001 |
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