Aim: The aim of this study was to estimate the prevalence of hemoglobinopathies in South Brazil. Methods: Samples of dried blood spots collected by heel prick in neonates were evaluated by isoeletric focusing and/or high-performance liquid chromatography techniques. All variants were characterized at the molecular level. Results: A total of 437,787 samples were evaluated. Among these, 6391 showed an abnormal hemoglobin pattern. These included 48 cases (0.01%) of sickle cell disorders (33 hemoglobin SS [Hb SS], 7 Hb SC, 7 Hb S/β thalassemia, 1 Hb SD), 1 neonate who was homozygous for β thalassemia, 6272 (1.4%) newborns who were heterozygous for Hb S, C, or D, and 71 (0.02%) neonates who were carriers for rare hemoglobin variants. Most of these rare variants were identified for the first time in Brazil. Conclusions: Comparing these results with those obtained in other Brazilian regions, we observe a highly heterogeneous distribution. This knowledge is useful in healthcare planning and allocation of resources, as well as identifying at-risk couples, which will assist with disease prevention.
AdornoEV, CoutoFD, Moura NetoJPet al.2005. Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil. Cad Saude Publica, 21:292-298.
3.
AlmeidaAM, HenthornJS, DaviesSC. 2001. Neonatal screening for hemoglobinopathies: the results of a 10-year programme in an English Health Region. Br J Haematol, 112:32-35.
4.
Bardakdjian-MichauJ, Guilloud-BatailieM, Maier-RedelspergerMet al.2002. Decreased morbidity in homozygous sickle cell disease detected at birth. Hemoglobin, 26:211-217.
5.
BoemerF, VanbellinghenJF, BoursVet al.2006. Screening for sickle cell disease on dried blood: a new approach evaluated on 27,000 Belgian newborns. J Med Screen, 13:132-136.
6.
BrandaliseS, PinheiroV, GabettaCSet al.2004. Newborn screening for sickle cell disease in Brazil: the Campinas experience. Clin Lab Haematol, 26:15-19.
7.
Callegari-JacquesSM, GrattapagliaD, SalzanoFMet al.2003. Historical genetics: spatiotemporal analysis of the formation of the Brazilian population. Am J Hum Biol, 15:824-834.
8.
CampbellM, HenthornJS, DaviesSC. 1999. Evaluation of cation-exchange HPLC compared with isoelectric focusing for neonatal hemoglobinopathy screening. Clin Chem, 45:969-975.
9.
Cela de JulianE, Dulin IniguezE, Guerrero SolerMet al.2007. Evaluation of systematic neonatal screening for sickle cell diseases in Madrid three years after its introduction. Ann Pediatr (Barc), 66:382-386.
10.
CesarG. 1970. História do Rio Grande do Sul: Período Colonial. Editora Globo, Porto Alegre.
11.
DaviesSC, CroninE, GillMet al.2000. Screening for sickle cell disease and thalassaemia: a systematic review with supplementary research. Health Technol Assess, 4,i-v:1-99.
12.
de AraujoMC, SerafimES, de CastroWAJr.et al.2004. Prevalence of abnormal hemoglobins in newborns in Natal, Rio Grande do Norte, Brazil. Cad Saude Publica, 20:123-128.
13.
DinizD, GuedesC, BarbosaLet al.2009. Prevalence of sickle cell trait and sickle cell anemia among newborns in the Federal District, Brazil, 2004 to 2006. Cad Saude Publica, 25:188-194.
14.
DowningM, PollittR. 2008. Newborn bloodspot screening in the UK—past, present and future. Ann Clin Biochem, 45:11-17.
15.
GastonMH, VerterJI, WoodsGet al.1986. Prophylaxis with oral penicillin in children with sickle cell anemia. A randomized trial. N Engl J Med, 314:1593-1599.
16.
GiardineB, van BaalS, KaimakisPet al.2007. HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. Hum Mutat, 28:206.
17.
GulbisB, FersterA, CottonFet al.2006. Neonatal hemoglobinopathy screening: review of a 10-year programme in Brussels. J Med Screen, 13:76-78.
LoboCL, BuenoLM, MouraPet al.2003. Neonatal screening for hemoglobinopathies in Rio de Janeiro, Brazil. Rev Panam Salud Publica, 13:154-159.
24.
Manu Pereira MdelM, CabotA, Martinez GonzalezAet al.2007. [Neonatal screening of hemoglobinopathies and G6PD deficiency in Catalonia (Spain). Molecular study of sickle cell disease associated with alpha thalassemia and G6PD deficiency]Med Clin (Barc), 129:161-164.
25.
MichlitschJ, AzimiM, HoppeCet al.2009. Newborn screening for hemoglobinopathies in California. Pediatr Blood Cancer, 52:486-490.
26.
MirandaS, FonsecaS, FigueiredoMet al.1997. Hb Köln [a2b2 98 (FG) Val-Met] identified by DNA analysis in a Brazilian family. Braz J Gen, 20:745-748.
27.
MoradkhaniK, PrehuC, OldJet al.2009. Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants. Ann Hematol, 88:535-543.
28.
PaixãoMC, Cunha FerrazMH, JanuarioJNet al.2001. Reliability of isoelectrofocusing for the detection of Hb S, Hb C, and HB D in a pioneering population-based program of newborn screening in Brazil. Hemoglobin, 25:297-303.
29.
PeresMJ, RomaoL, CarreiroHet al.1995. Molecular basis of alpha-thalassemia in Portugal. Hemoglobin, 19:343-352.
30.
SalzanoFM, Freire-MaiaN. 1970. Problems in Human Biology. A Study of Brazilian Populations. Wayne State University Press: Detroit.
31.
SerjeantGR. 2000. Screening for sickle-cell disease in Brazil. Lancet, 356:168-169.
32.
TherrellBL, AdamsJ. 2007. Newborn screening in North America. J Inherit Metab Dis, 30:447-465.
33.
WagnerSC, PereiraC, CastroSM. 2006. Association of Hb Shelby with Hb S in the south of Brazil. Haematologica, 91:1141-1142.
34.
WatanabeAM, PianovskiMA, Zanis NetoJet al.2008. [Prevalence of hemoglobin S in the State of Parana, Brazil, based on neonatal screening]Cad Saude Publica, 24:993-1000.
35.
WeatherallDJ, ProvanAB. 2000. Red cells I: inherited anaemias. Lancet, 355:1169-1175.
