Alpha-Thalassemia 2, 3.7 kb deletion and hemoglobin AC heterozygosity in pregnancy: a molecular and hematological analysis

• Autor(a) principal: Couto, Fábio David
• Data de Publicação: 2003
• Outros Autores: Albuquerque, Alessandra B. Lima, Adorno, Elisângela Vitória, Abbehusen, L. de Freitas, Oliveira, J. L. B. de, Reis, Mitermayer Galvão dos, Gonçalves, Marilda de Souza
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
• Texto Completo: https://www.arca.fiocruz.br/handle/icict/4176
• topic: Hemoglobinopathies; Hemoglobin C; Pregnancy; Thalassemia; Hematologic parameters; Deleção de Sequência; Talassemia alfa/genética; Estudos de Casos e Controles; Grupos de Populações Continentais; Feminino; Testes Genéticos; Testes Hematológicos; Hemoglobina A; Hemoglobina C; Heterozigoto; Humanos; Gravidez; Talassemia alfa/diagnóstico

Alpha-Thalassemia is a synthesis hemoglobinopathy with a worldwide distribution. alpha-thalassemia-23.7kb (alpha-Thal23.7kb) was investigated by PCR and standard hematologic analysis techniques in 106 pregnant women - 53 heterozygous for hemoglobin (Hb) A and C (AC) and 53 homozygous for the normal Hb A (AA) with similar ages and race ancestry. Eleven (21%) of AC women were alpha-Thal23.7kb heterozygous and 1 (2%) was homozygous, while 12 AA women (23%) were heterozygous. In the AA group, the MCV differed among those with normal alpha genes and those with alpha-Thal23.7kb (P = 0.031). Statistical analysis of AC group patients with normal alpha genes and alpha-Thal23.7kb carriers showed differences in MCV (P = 0.001); MCH (P = 0.003) and Hb C concentrations (P = 0.011). Analysis of AA and AC group patients with normal alpha genes showed differences in RBC (P = 0.033), Hb concentration (P = 0.003) and MCHC (P < 0.0001). There were no statistically significant differences for any hematologic parameters between AC and AA group patients with the alpha-Thal23.7kb genotype. The AC alpha-Thal23.7kb homozygous women had low hematologic parameters. Serum ferritin levels were normal among the groups studied. These results emphasize the importance of diagnosis and follow-up of patients with hemoglobinopathy carriers during pregnancy in order to administer adequate therapy and avoid further complications for mothers and newborns.