Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil

Abstract

Abstract

Hemoglobinopathies in newborns in the southern region of the Triângulo Mineiro, Brazil. Cross-sectional study

“…27 This result is similar to those found in the states of São Paulo (23.7%), 28 Bahia (29.1%) and Pernambuco (25.6%). 10,29 In the current study, 21.31% of the patients with Hb S also inherited the α-thal gene and therefore the frequency of α-thal in the Brazilian population is relatively high, with even higher prevalence among Afro-descendants. 20,24,27 Hb S is considered to be the most prevalent hereditary redblood cell disorder in the world.…”

“…These frequencies vary widely according to the degree of racial admixture in the different regions of Brazil. 10 Since the data from the municipal Health Department of Uberaba show that the prevalence of sickle cell disease in the region in 2012 was 1:1166, the high rate observed in the current study may be due to the small sample size and also to the fact that one of the infants with Hb SS was from a neighboring town (Delta). This child's parents were from northeastern Brazil, and were Afro-descendants who had migrated to work in the sugar cane plantations of the region.…”

“…7,18,19 The most common hemoglobinopathy in the region of Uberaba, similar to other studies conducted in Brazilian regions where there is a predominance of Afro-descendants, has been found to be α-thal (1:9.6). 10,20,21 This differs from the states of Rio Grande do Sul and Paraná, where there are fewer Afrodescendants. 13 It is known that the most common genotype of α-thal in the Brazilian population is the -α 3.7 deletion, which is directly related to the black population.…”

“…With specific regard to thalassemia, some studies have indicated prevalence rates between 0.5% and 6.6% in the northern region of Brazil, 9 between 2.5% and 19.7% in the northeast, 10 between 0.7% and 6.6% in the central-western region, 11 between 0.7% and 9.48% in the southeast 12 and between 0.2% and 4.44% in the south. 13 Detection of carriers of these genetic changes is extremely important for public health, since all levels of the healthcare system are involved due to the high prevalence and the chronic nature of the resulting diseases, with wide-ranging clinical variations.…”

Talassemias alfa

“…2,3 Estudo realizado em Salvador, Bahia, através da análise do sangue do cordão umbilical de 590 recém-nascidos, observou a presença de talassemia alfa em 114 recém-nascidos (22,2%; todos com a deleção -α 3,7 ), dos quais 101 (19,7%) eram heterozigotos e 13 (2,5%) homozigotos. 4 Tomé-Alves et al, analisando a presença concomitante de talassemia alfa em pacientes brasileiros portadores de hemoglobina S em heterozigose (Hb AS) com anemia, observaram que das 1.002 amostras de sangue analisadas, 16 (1,59%) pacientes apresentavam a interação Hb AS/talassemia alfa. 5 Couto et al, estudando a associação de talassemia (deleção -α 3,7 ) em indivíduos portadores de hemoglobinopatia C, observaram freqüência de talassemia alfa de 21,7% na forma heterozigótica e de 0,9% na forma homozigótica.…”