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).

Hemoglobinopatias são alterações hereditárias na molécula de hemoglobina com prevalência mundial elevada. O Brasil apresenta prevalência de 0,1 a 0,3% para recém-nascidos com anemia falciforme e freqüência de 20,0 a 25,0% para a ocorrência de heterozigotos da talassemia alfa2 entre indivíduos afro-descendentes. O presente estudo investigou a presença de hemoglobinas variantes e talassemia alfa2(3.7Kb) e alfa2(4.2Kb) em recém-nascidos de Salvador, Bahia, Brasil. Analisamos o sangue do cordão umbilical de 590 recém-nascidos, sendo 57 (9,8%) com padrão FAS; 36 (6,5%) FAC; um (0,2%) SF e cinco (0,9%) FSC. Cento e catorze (22,2%) apresentaram talassemia alfa2(3.7Kb), dos quais 101 (19,7%) foram heterozigotos e 13 (2,5%) homozigotos, mostrando significância estatística para os dados hematológicos entre recém-nascidos com genes alfa normais e portadores de talassemia alfa2(3.7Kb). A talassemia alfa2(4.2Kb) não foi encontrada. As freqüências descritas neste trabalho confirmam que as hemoglobinopatias são um problema de Saúde Pública no Brasil, enfatizando a importância dos programas de triagem neonatal e aconselhamento genético.

Hemoglobinopathies are hereditary disorders of the hemoglobin molecule with a high prevalence worldwide. Brazil has a prevalence of 0.1 to 0.3% of newborns with sickle cell anemia and 20.0 to 25.0% of heterozygous alpha2 thalassemia among African Brazilians. In the present study, we investigated the presence of variant hemoglobins and alpha2(3.7 Kb) and alpha2(4.2 Kb) thalassemia in newborns from Salvador, Bahia, Brazil. Samples of umbilical cord blood from a total of 590 newborns were analyzed, of which 57 (9.8%) were FAS; 36 (6.5%) FAC; one (0.2%) SF; and five (0.9%) FSC. One hundred fourteen (22.2%) newborns had alpha2(3.7 Kb) thalassemia, of whom 101 (19.7%) were heterozygous and 13 (2.5%) homozygous, showing statistical significance for hematological data between newborns with normal alpha genes and alpha2(3.7 Kb) thalassemia carriers. The alpha2(4.2 Kb) thalassemia was not found. Frequencies found in the present study confirm that hemoglobinopathies are a public health problem in Brazil, emphasizing the need for neonatal screening and genetic counseling programs.

Hemoglobinopatias são alterações hereditárias na molécula de hemoglobina com prevalência mundial elevada. O Brasil apresenta prevalência de 0,1 a 0,3% para recém-nascidos com anemia falciforme e freqüência de 20,0 a 25,0% para a ocorrência de heterozigotos da talassemia alfa2 entre indivíduos afro-descendentes. O presente estudo investigou a presença de hemoglobinas variantes e talassemia alfa2(3.7Kb) e alfa2(4.2Kb) em recém-nascidos de Salvador, Bahia, Brasil. Analisamos o sangue do cordão umbilical de 590 recém-nascidos, sendo 57 (9,8%) com padrão FAS; 36 (6,5%) FAC; um (0,2%) SF e cinco (0,9%) FSC. Cento e catorze (22,2%) apresentaram talassemia alfa2(3.7Kb), dos quais 101 (19,7%) foram heterozigotos e 13 (2,5%) homozigotos, mostrando significância estatística para os dados hematológicos entre recém-nascidos com genes alfa normais e portadores de talassemia alfa2(3.7Kb). A talassemia alfa2(4.2Kb) não foi encontrada. As freqüências descritas neste trabalho confirmam que as hemoglobinopatias são um problema de Saúde Pública no Brasil, enfatizando a importância dos programas de triagem neonatal e aconselhamento genético.

Hemoglobinopathies are hereditary disorders of the hemoglobin molecule with a high prevalence worldwide. Brazil has a prevalence of 0.1 to 0.3% of newborns with sickle cell anemia and 20.0 to 25.0% of heterozygous alpha2 thalassemia among African Brazilians. In the present study, we investigated the presence of variant hemoglobins and alpha2(3.7 Kb) and alpha2(4.2 Kb) thalassemia in newborns from Salvador, Bahia, Brazil. Samples of umbilical cord blood from a total of 590 newborns were analyzed, of which 57 (9.8%) were FAS; 36 (6.5%) FAC; one (0.2%) SF; and five (0.9%) FSC. One hundred fourteen (22.2%) newborns had alpha2(3.7 Kb) thalassemia, of whom 101 (19.7%) were heterozygous and 13 (2.5%) homozygous, showing statistical significance for hematological data between newborns with normal alpha genes and alpha2(3.7 Kb) thalassemia carriers. The alpha2(4.2 Kb) thalassemia was not found. Frequencies found in the present study confirm that hemoglobinopathies are a public health problem in Brazil, emphasizing the need for neonatal screening and genetic counseling programs.

O polimorfismo C677T no gene da MTHFR tem sido associado ao aumento dos níveis séricos de homocisteína.total (tHcy), descrito como fator de risco para o desenvolvimento de doenças cardiovasculares. Oitocentos e quarenta e três recém-nascidos (RNs), de duas maternidades diferentes, uma pública e a outra privada, em Salvador, Bahia, Brasil foram triados para o polimorfismo C677T por PCR e RFLP. A freqüência do alelo T foi de 0,23 e as prevalências dos genótipos C/T e T/T foram de 36,2% e 5,3%, respectivamente. A freqüência do alelo T diferiu e a prevalência do genótipo T/T foi mais elevada entre os RNs da maternidade privada. O perfil de hemoglobinas (Hb) foi determinado por HPLC em 763 RNs. A freqüência de Hbs variantes foi mais elevada entre os RNs da maternidade pública Tsylla Balbino do que na maternidade privada do Hospital Santo Amaro. A associação do polimorfismo C677T e o perfil de Hbs foram estudados em 683 RNs, apresentando freqüência elevada da coexistência do alelo T e Hb variantes. Estes resultados podem ser utilizados como base para estudos futuros sobre riscos potenciais de eventos vaso-oclusivos nestes indivíduos.

The C677T polymorphism in the methylenetetrahydrofolate reductase gene (MTHFR) is associated with an increase in total homocysteine serum levels (tHcy), described as a risk factor for cardiovascular disease. Eight hundred forty-three neonates from two different maternity hospitals, one public and another private, in Salvador, Bahia, Brazil were screened for this polymorphism by PCR and RFLP. The T-allele frequency in the total sample was 0.23, and the prevalence rates of heterozygous and homozygous carriers were 36.2% and 5.3%, respectively. The T-allele frequency differed and the T/T genotype was more prevalent at the private maternity hospital. The hemoglobin (Hb) profile was investigated by HPLC in 763 newborns. The frequency of variant Hb was higher at the public than at the private maternity hospital. The association of the C677T polymorphism and the Hb profile was investigated in 683 newborns, showing a relatively high frequency of variant Hbs and the T allele. These data could provide an important basis for further studies focusing on potential risks of vaso-occlusive events in these individuals.

O polimorfismo C677T no gene da MTHFR tem sido associado ao aumento dos níveis séricos de homocisteína.total (tHcy), descrito como fator de risco para o desenvolvimento de doenças cardiovasculares. Oitocentos e quarenta e três recém-nascidos (RNs), de duas maternidades diferentes, uma pública e a outra privada, em Salvador, Bahia, Brasil foram triados para o polimorfismo C677T por PCR e RFLP. A freqüência do alelo T foi de 0,23 e as prevalências dos genótipos C/T e T/T foram de 36,2% e 5,3%, respectivamente. A freqüência do alelo T diferiu e a prevalência do genótipo T/T foi mais elevada entre os RNs da maternidade privada. O perfil de hemoglobinas (Hb) foi determinado por HPLC em 763 RNs. A freqüência de Hbs variantes foi mais elevada entre os RNs da maternidade pública Tsylla Balbino do que na maternidade privada do Hospital Santo Amaro. A associação do polimorfismo C677T e o perfil de Hbs foram estudados em 683 RNs, apresentando freqüência elevada da coexistência do alelo T e Hb variantes. Estes resultados podem ser utilizados como base para estudos futuros sobre riscos potenciais de eventos vaso-oclusivos nestes indivíduos.

The C677T polymorphism in the methylenetetrahydrofolate reductase gene (MTHFR) is associated with an increase in total homocysteine serum levels (tHcy), described as a risk factor for cardiovascular disease. Eight hundred forty-three neonates from two different maternity hospitals, one public and another private, in Salvador, Bahia, Brazil were screened for this polymorphism by PCR and RFLP. The T-allele frequency in the total sample was 0.23, and the prevalence rates of heterozygous and homozygous carriers were 36.2% and 5.3%, respectively. The T-allele frequency differed and the T/T genotype was more prevalent at the private maternity hospital. The hemoglobin (Hb) profile was investigated by HPLC in 763 newborns. The frequency of variant Hb was higher at the public than at the private maternity hospital. The association of the C677T polymorphism and the Hb profile was investigated in 683 newborns, showing a relatively high frequency of variant Hbs and the T allele. These data could provide an important basis for further studies focusing on potential risks of vaso-occlusive events in these individuals.