Dificuldades no diagnóstico laboratorial das hemoglobinopatias

Abstract

Há vários tipos de hemoglobinopatias que são caracterizados por variantes das hemoglobinas anormais (ex: Hb S, Hb C, Hb Instáveis,etc) e por talassemias (ex: tal. alfa, tal. beta, tal.beta/delta,etc) As hemoglobinopatias são consideradas como uma das doenças genéticas mais comuns em todo o mundo, com prevalência de portadores heterozigotos de seus principais tipos em aproximadamente 5% da população mundial. Devido à heterogenidade clínica e genética dessas alterações genéticas é fundamental estabelecer a investigação laboratorial das diferentes formas de hemoglobinas variantes e de talassemias. Este artigo apresenta as principais dificuldades laboratoriais que envolvem a complexidade molecular das hemoglobinopatias. Rev. bras. hematol. hemoter. 2007;29(3):226-228. Palavras-chave: Hemoglobinopatias;talassemias; doença falciforme. 1 Tema referente à apresentação realizada no I Encontro Brasileiro de Doenças Falciformes

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

“…centuries, who settled mainly in the south and southeast of the country. 16 In this study, the prevalence of β-thal (0.60%) was similar to what had previously been found in other investigations in Brazil (from 0.38% to 1%). 25,26 However, it was lower than the rate reported by Aigner et al 23 (5.50%) in a study carried out in Paraná, where there is a high proportion of Italian descendants.…”

“…7 Among all the newborns with sickle cell disease, around 25% do not reach the age of five if they are not diagnosed early and treated appropriately. 16,18 The frequency of Hb S observed in this study was 5.87%.…”

“…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. It causes severe consequences including major hematological changes.…”

“…Individuals with β-thal minor have levels that, on average, are 1-2% above the reference values for Hb A 2 . 24 In accordance with the Brazilian Ministry of Health Protocol, all newborns diagnosed with structural hemoglobinopathies and thalassemia by means of screening tests should be reassessed after reaching six months of age, using tests to confirm the result.…”

Assistência de enfermagem na doença falciforme nos serviços de atenção básica

“…Em decorrência desse histórico, a doença ficou conhecida como "doença de negros"; entretanto, em razão da intensa miscigenação ocorrida entre negros, brancos e indígenas no processo histórico de formação dos diferentes grupos humanos no Brasil, o gene pode ser encontrado em todo o território nacional, independente da cor de pele ou etnia. 8 …”