α-Thalassemia, arising from a defect in α-globin chain synthesis, is often caused by deletions involving one or both of the α-genes on the same allele. With the aim of investigating the prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, 713 unrelated individuals, between 18 and 59 years-of-age, were analyzed. Red blood cell indices were electronically determined, and A2 and F hemoglobins evaluated by HPLC. PCR was applied to the molecular investigation of α-thalassemia 3.7 kb deletion. Eighty (11.2%) of the 713 individuals investigated presented α-thalassemia, of which 79 (11.1%) were heterozygous (-α3.7/αα) deletions and 1 (0.1%) homozygous (-α3.7/-α3.7). Ethnically, heterozygous deletions were higher (24.8%) in Afro-Brazilians. Comparison of hematological parameters between individuals with normal genotype and those with heterozygous α+-thalassemia showed a statistically significant difference in the number of erythrocytes (p < 0.001), MCV (p < 0.001), MCH (p < 0.001) and Hb A2 (p = 0.007). This study is one of the first dedicated to investigating α-thalassemia 3.7 kb deletion in the population of the State Rio Grande do Norte state. Results obtained demonstrate the importance of investigating this condition in order to elucidate the causes of microcytosis and hypochromia.
Asmáticos com doença grave e má percepção da intensidade da obstrução brônquica provavelmente apresentam risco elevado de morte por asma. Os autores descrevem o caso de uma mulher de 52 anos com asma, cujos testes, em um estudo prospectivo para identificação de pacientes com percepção alterada da intensidade da obstrução brônquica, haviam mostrado o escore mínimo da escala visual analógica na presença de VEF1 e PFE matinal reduzidos. Após o estudo, a paciente voltou ao ambulatório sem queixas e com exame físico normal, relatando estar sem uso de nenhuma medicação e, abruptamente, ainda no ambulatório, desenvolveu dispnéia não reversível. A má percepção da intensidade da obstrução brônquica provavelmente concorreu para a insuficiência respiratória aguda e a morte da paciente.
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