ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil

Gonçalves, Marilda Souza; Bomfim, Gilberto Cafezeiro; Maciel, E.; Cerqueira, I.; Lyra, Isa Menezes; Zanette, Ângela; Adôrno, Elisângela Vitória; Albuquerque, Alessandra Lima de; Pontes, Ana Alice Domingos; Dupuit, M.F.; Fernandes, Gilênio Borges; Reis, Mitermayer Galvão dos

doi:10.1590/s0100-879x2003001000001

Cited by 52 publications

(45 citation statements)

References 17 publications

(17 reference statements)

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“…This suggests an uneven β S -globin gene haplotype distribution in Brazil Goncalves et al, 1994;Figueiredo et al, 1996;Pante-De-Souza et al, 1999). In the present study, we report for the first time the presence of the Cam and Arabia-India haplotypes in Bahia, confirming the previously described African origin diversity of this population (Goncalves et al, 2003;Adorno et al, 2004).…”

Section: Discussionsupporting

confidence: 92%

Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil

Adôrno

Zanette²,

Lyra³

et al. 2008

Genet. Mol. Biol.

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Beta S-globin gene (β S -globin) haplotypes, markers for severe sickle cell anemia (SCA), and the alpha-thalassemia 2 gene 3.7 kb deletion (-α 2 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 those > 18 y, those aged ≤ 18 y had had fewer erythrocyte transfusions and high HbF levels (12.3% ± 7.01 to 7.9% ± 4.36) but a higher frequency of spleen sequestration and pneumonia. Compared with normal α -genes carriers values, the outpatients with -α 2 3.7 kb thal (determined by PCR analysis) had significantly higher mean hemoglobin concentration (Hb) (8.3 ± 1.34 g/dL, p = 0.018) and packed cell volume (PCV = 27.1% ± 4.26, p = 0.019) but low mean corpuscular volume (MCV = 86.1 fL = 10 -15 L ± 9.56, p = 0.0004) and mean corpuscular hemoglobin (MCH = 26.6% ± 4.60, p = 0.039).

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Section: Discussionsupporting

confidence: 92%

Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil

Adôrno

Zanette²,

Lyra³

et al. 2008

Genet. Mol. Biol.

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“…The results presented here show that sickle cell disease patients from Bahia could have specific risk factors for retinal vessel changes other that those described before. (24,26) …”

Section: Discussionmentioning

confidence: 99%

Ocular lesions in sickle cell disease patients from Bahia, Brazil

Cury

Boa‐Sorte

Lyra³

et al. 2010

Rev. bras.oftalmol.

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Objective: The present study aims to describe ocular alterations in sickle cell disease patients in Bahia, a Northeast state, with the highest prevalence of the disease in Brazil. Methods: We carried out a cross-sectional study in a group of 146 (292 eyes) sickle cell disease patients (90 HBSS and 56 HBSC). Ophthalmologic examination including indirect binocular ophthalmoscopy was performed. Examination was completed by fluorescein angiography to detect retinal lesions. Results: The most frequent ocular lesions identified were "vascular tortuosity" and "black sunburst". Proliferative retinopathy was found in 22 (12.2%) eyes of HBSS patients and 25 (22.3%) eyes of HBSC patients (OR=2.06; CI95%: 1.5-4.06, p=0.022); Its frequency was higher among HBSS patients aged 20-39 years, while in HBSC patients, it peaked after 40 years (35.7% and 42.8%) and dropped sharply afterwards. Conclusion: Proliferative retinopathy was described as early as 10 years of age in both patients groups. Proliferative sickle retinopathy can result in blindness and the knowledge of the most prevalent ocular alterations and age risk will be important to establish a protocol of ophthalmologic follow-up, in order to prevent a severe visual loss and increase patient's life quality.

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“…Esta herança no Brasil trata-se de uma característica genética levando-se em conta a grande miscigenação e a significativa presença da população afro-descendente. Na Bahia, berço da colonização africana no Brasil, as hemoglobinas variantes apresentaram uma frequência de 6,9% a 15,4% em indivíduos afro-descendentes pesquisados na cidade de Salvador, caracterizando a herança genética advinda das várias regiões da África, quando do advento da escravatura 11,29 .…”

Section: Resultsunclassified

Prevalência de hemoglobinas variantes em comunidades quilombolas no estado do Piauí, Brasil

Soares

Lima

Silva

et al. 2017

Ciênc. saúde coletiva

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ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil

Cited by 52 publications

References 17 publications

Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil

Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil

Ocular lesions in sickle cell disease patients from Bahia, Brazil

Prevalência de hemoglobinas variantes em comunidades quilombolas no estado do Piauí, Brasil

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