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

Genetics and Molecular Biology

Volumn 31, Issue 3, 2008, Pages 621-625

  Adorno, Elisângela Vitória ^a,b   Zanette, Ângela ^c   Lyra, Isa ^c   Seixas, Magda Oliveira ^a,b   Reis, Mitermayer Galvão ^a   Gonçalves, Marilda Souza ^a,b  

^a INSTITUTO OSWALDO CRUZ   (Brazil)

^b FEDERAL UNIVERSITY OF BAHIA   (Brazil)

^c Fundacao de Hematologia e Hemoterapia do Estado da Bahia HEMOBA   (Brazil)

Author keywords

Alpha thalassemia 2 gene 3.7 kb deletion ( 2 3.7 kb thal); Fetal hemoglobin; S globin gene haplotypes

Indexed keywords

ALPHA THALASSEMIA 2 PROTEIN; BETA GLOBIN; GENE PRODUCT; HEMOGLOBIN F; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; BENIN; BRAZIL; CAMEROON; CENTRAL AFRICAN REPUBLIC; CEREBROVASCULAR ACCIDENT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DEMOGRAPHY; FEMALE; GENE DELETION; HAPLOTYPE; HEMATOCRIT; HEMOGLOBIN DETERMINATION; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MEAN CORPUSCULAR HEMOGLOBIN; MEAN CORPUSCULAR VOLUME; MOLECULAR DYNAMICS; POLYMERASE CHAIN REACTION; PREVALENCE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SENEGAL; SICKLE CELL ANEMIA;

EID: 55349132333     PISSN: 14154757     EISSN: 16784685     Source Type: Journal    
DOI: 10.1590/S1415-47572008000400003     Document Type: Article

References (35)

1. Adams RJ, Kutlar A, McKie V, Carl E, Nichols FT, Liu JC, McKie K and Clary A (1994) Alpha thalassemia and stroke risk in sickle cell anemia. Am J Hematol 45:279-282.
2. Adomo EV, Zanette A, Lyra I, Souza CC, Santos LF, Menezes JF, Dupuit MF, Almeida MN, Reis MG and Goncalves MS (2004) The beta-globin gene cluster haplotypes in sickle cell anemia from Northeast Brazil: A clinical and molecular view. Hemoglobin 28:267-271.
3. Almeida AM, Godinho TM, Teles MS, Rehem APP, Jalil HM, Fukuda TG, Araujo EP, Matos EC, Muritiba-Junior DC, Dias CPF et al. (2006) Assessment of Bahia screening neonatal program in 2003. Rev Bras Saude Matern Infant 6:85-91.
4. Azevêdo ES (1980) Subgroup studies of black admixture within a mixed population of Bahia, Brazil. Ann Hum Genet 44:55-60.
5. Azevêdo ES, Alves AFP, Silva MCBO, Souza MGF, Lima AMVMD and Azevedo WC (1980) Distribution of abnormal hemoglobins and glucose-6-phosphate dehydrogenase variants in 1200 school children of Bahia, Brazil. Am J Phys Anthropol 53:509-512.
6. Billett HH, Nagel RL and Fabry ME (1995) Paradoxical increase of painful crises in sickle cell patients with alpha-thalassemia. Blood 86:4382.
7. Borba R, Lima CS and Grotto HZ (2003) Reticulocyte parameters and hemoglobin F production in sickle cell disease patients undergoing hydroxyurea therapy. J Clin Lab Anal 17:66-72.
8. Buchanan GR, Debaun MR, Quinn CT and Steinberg MH (2004) Sickle cell disease. Hematology Am Soc Hematol 35-47.
9. Bunn HF and Forget BG (1986) Sickle cell disease-molecular and cellular pathogenesis. In: Bunn BF and Forget BG (eds) Hemoglobin: Molecular, Genetic and Clinical Aspects. Philadelphia, PA, pp 453-501.
10. Costa FF, Arruda VR, Goncalves MG, Miranda SR, Carvalho MH, Sonati MF, Saad SO, Gesteira F, Fernandes D and Nascimento ML (1994) Beta S-gene-cluster haplotypes in sickle cell anemia patients from two regions of Brazil. Am J Hematol 45:96-97.
11. Diop S, Thiam D, Cisse M, Toure-Fall AO, Fall K and Diakhate L (1999) New results in clinical severity of homozygous sickle cell anemia, in Dakar, Senegal. Hematol Cell Ther 41:217-221.
12. anti3.7 triplication by enzymatic amplification analysis. Br J Haematol 2:105-111.
13. Falusi AG and Kulozik AE (1990) Relationship of foetal haemoglobin levels and beta s haplotypes in homozygous sickle cell disease. Eur J Haematol 45:1-4.
14. Figueiredo MS, Kerbauy J, Goncalves MS, Arruda VR, Saad ST, Sonati MF, Stoming T and Costa FF (1996) Effect of α-thalassemia and β-globin gene cluster haplotypes on the hematological and clinical features of sickle-cell anemia Brazil. Am J Hematol 53:72-76.
15. S - Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil. Braz J Med Biol Res 36:1283-1288.
16. Goncalves MS, Nechtman JF, Figueiredo MS, Kerbauy J, Arruda VR, Sonati MF, Saad SO, Costa FF and Stoming TA (1994) Sickle cell disease in a Brazilian population from Sao Paulo: A study of the beta s haplotypes. Hum Hered 44:322-327.
17. Inati A, Taber A, Bou Alawi W, Koussa S, Kaspar H, Shbaklo H and Zalloua PA (2003) Beta-globin gene cluster haplotypes and HbF levels are not the only modulators of sickle cell disease in Lebanon. Eur J Haematol 70:79-83.
18. S chromosomes with five different haplotypes. Blood 77:2488-2496.
19. Lugo MV, Rodrígues-Larraldee A and Guerra DC (2003) Beta-globin gene cluster haplotypes as evidence of African gene flow to the Northeastern Coast of Venezuela. Am J Hum Biol 15:29-37.
20. Mouele R, Galacteros F and Feingold J (1999) Haemoglobin F (HbF) levels in sickle-cell anaemia patients homozygous for the Bantu haplotype. Eur J Haematol 63:136-137.
21. Mukherjee MB, Lu CY, Ducrocq R, Gangakhedkar RR, Colah RB, Kadam MD, Mohanty D, Nagel RL and Krishnamoorthy R (1997) Effect of α-thalassemia on sickle cell anemia linked to the Arab-Indian Haplotype in India. Am J Haematol 55:104-109.
22. Nagel RL and Ranney HM (1990) Genetic epidemiology of structural mutations of the β-globin gene. Sem Hematol 27:342-359.
23. S gene: Origins, genetic epidemiology, and epistasis in sickle cell anemia. In: Steinberg MH, Forget BG, Higgs DR and Nagel RL (eds) Disorders of Hemoglobin - Genetics, Pathophysiology, and Clinical Management. Cambridge University Press, New York, pp 711-755.
24. Nagel RL and Steinberg MH (2001b) Role of epistatic (modifier) genes in the modulation of the phenotypic diversity of sickle cell anemia. Pediatr Pathol Mot Med 20:123-136.
25. Ofori-Acquah SF, Lalloz MR and Layton DM (2001) Nucleotide variation regulates the level of enhancement by hypersensitive site 2 of the beta-globin locus control region. Blood Cells Mol Dis 27:803-811.
26. Pante-De-Souza G, Mousinho-Ribeiro RC, Santos EJM and Guerreiro JF (1999) Beta-globin haplotypes analysis in Afro-Brazilians from the Amazon region: Evidence for a significant gene flow from Atlantic West Africa. Ann Hum Biol 26:365-373.
27. Patrinos GP, Samperi P, Lo Nigro L, Kollia P, Schiliro G and Papadakis MN (2005) Evidence for the molecular heterogeneity of sickle cell anemia chromosomes bearing the betaS/Benin haplotype. Am J Hematol 80:79-80.
28. Powars D and Hiti A (1993) Sickle cell anemia. Beta S gene cluster haplotypes as genetic markers for severe disease expression. Am J Dis Child 147:1197-1202.
29. S Gene in Central Iran is in linkage disequilibrium with the Indian-Arab haplotype. Am J Hematol 65:192-195.
30. Salzano FM (1985) Incidence, effects, and management of sickle cell disease in Brazil. Am J Pediatr Hematol Oncol 7:240-244.
31. Sarnaik SA and Ballas SK (2001) Molecular characteristics of pediatric patients with sickle cell anemia and stroke. Am J Hematol 67:179-182.
32. Sonati MF, Farah SB, Ramalho AS and Costa FF (1991) High prevalence of α-thalassemia in a black population of Brazil. Hemoglobin 15:309-311.
33. Steinberg M (2001) Modulation of fetal hemoglobin in sickle cell anemia. Hemoglobin 25:195-211.
34. Steinberg MH and Embury SH (1986) α-thalassemia in blacks: Genetic and clinical aspects and interactions with the sickle hemoglobin gene. Blood 68:985-990.
35. Sutton M, Bouhassi EE and Nagel RL (1989) Polymerase chain reaction amplification applied to the determination of beta - like globin gene cluster haplotypes. Am J Hematol 32:66-69.