Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil
| Autor: | Magda Oliveira Seixas, Elisângela Vitória Adorno, Marilda Souza Goncalves, Ângela Zanette, Isa Menezes Lyra, Mitermayer G. Reis |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2008 |
| Předmět: |
Genetics
medicine.medical_specialty medicine.diagnostic_test lcsh:QH426-470 Haplotype Cell volume Mean corpuscular hemoglobin alpha-thalassemia 2 gene 3.7 kb deletion (-α23.7 kb thal) Biology medicine.disease Fetal hemoglobin Gastroenterology Sickle cell anemia lcsh:Genetics Internal medicine medicine βS-globin gene haplotypes Hemoglobin Molecular Biology Pcr analysis Mean corpuscular volume |
| Zdroj: | Genetics and Molecular Biology, Vol 31, Iss 3, Pp 621-625 (2008) Genetics and Molecular Biology, Volume: 31, Issue: 3, Pages: 621-625, Published: 2008 Genetics and Molecular Biology v.31 n.3 2008 Genetics and Molecular Biology Sociedade Brasileira de Genética (SBG) instacron:SBG |
| ISSN: | 1678-4685 1415-4757 |
| Popis: | 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 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 -α2(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). |
| Databáze: | OpenAIRE |
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