Incidence of variant hemoglobins in newborns attended by a public health laboratory

Abstract

ObjectiveTo evaluate the incidence of variant hemoglobins in different health regions.MethodsA descriptive, observational, and cross-sectional study with a quantitative approach based on secondary data in the internal records of the neonatal screening service - Laboratório Central de Saúde Pública do Estado do Piauí (PI, Brazil). The variables related to sex, ethnicity and positive diagnosis for variant hemoglobins were analyzed, with further population distribution of hemoglobinopathies among the macroregions of the state.ResultsA total of 69,180 samples of newborns were analyzed, and 3,747 were diagnosed as hemoglobinopathies, from February 1st, 2014 and December 31st, 2015. Sickle cell trait was the most frequent (4.1%), followed by hemoglobinopathy C in 0.9%; homozygous hemoglobin S cases 0.1% stood out and there were no cases of hemoglobinopathy D in the state. It is also worth noting that the highest frequencies of hemoglobin alterations in Piauí were in males (49.8%) and of parda skin color (38.5%). The region of Piauí presenting the highest incidence of heteroygous variant hemoglobins was Tabuleiros do Alto Parnaíba and Vale do Sambito, due to importance of the region's population Entre Rios.ConclusionNeonatal screening programs are important for screening, orientations regarding health actions and monitoring of families with hemoglobinopathies, in order to reduce morbidity and mortality rates.

Incidence of hemoglobinopathies and spatialization of newborns with sickle cell trait in Mato Grosso do Sul, Brazil

“…The incidence of live births with hemoglobinopathies detected by the PNTN varied widely among Brazilian states, with Hb S being the most frequent of the Hb variants. (15)(16)(17)(18) The highest incidence rates of NB with SCD occur in states with a higher concentration of Afro-descendants, such as Bahia. In the state of Mato Grosso do Sul, the incidence of SCD and sickle cell trait was 1:8,300 and 1:70, respectively.…”

Prevalence of priapism in individuals with sickle cell disease and implications on male sexual function

“…In the group of the patients older than 18 years of age who were analyzed with EHS and SSL, those with a history of priapism had significantly worse erections: EHS scored 2 [1][2][3] in comparison to individuals with PE (EHS=4 [3][4]; p=0.01) (Figure 3). Also, the patients who had priapism were less satisfied with their sexual life than the individuals with PE (SSL=2 [1][2]; versus 3 [3-5]; p=0.02) (Figure 4).…”

“…A projeção estatística foi de que 71,1% desses sujeitos teriam pelo menos um episódio de priapismo ao longo da vida. Pacientes adultos com episódios de priapismo (10/23) apresentaram função erétil significativamente pior Escala de Rigidez de Ereção de 2 [1][2][3]; p=0,01 e estavam menos satisfeitos com a vida sexual 3 [3][4][5]; p=0,02. Conclusão: O priapismo manifesta-se desde a infância, e episódios graves estão associados a dano cavernoso, prejuízo na qualidade da ereção e menor satisfação sexual.…”

“…Descritores: Anemia falciforme; Priapismo/epidemiologia; Disfunção erétil; Sexualidade ❚ INTRODUCTION "Sickle cell disease" (SCD) is a generic term that encompasses a group of hereditary hemolytic anemia characterized by structural changes in the beta hemoglobin's chain, leading to the production of abnormal hemoglobin, which is called HbS. (1,2) This disease is recognized by the World Health Organization (WHO) as a serious global public health problem, with great impact on the morbidity and mortality of the affected population. (3) It affects mainly Afrodescendants, and its pathophysiology is related to the occurrence of vaso-occlusive episodes, in small vessels, leading to the signs and symptoms of the disease.…”