Diagnóstico de hemoglobinopatias em recém-nascidos do Hospital de Base de São José do Rio Preto - SP

Abstract

The hemoglobinopathies, mainly the sickle cell anaemia and the thalassemias, include a heterogeneous group of genetic alterations disseminated over the whole world. They consist of a problem of public health in several countries, including Brazil. The neonatal period is considerated the most effective for the screening of this alterations. This allows prophylaxis and prevention before the appearance of the first symptoms, allowing improvement on the patient's survival and guidance of the parents and heterozygote carrier. The present work aims the early detection of the abnormal hemoglobins to establishiment standard analysis and examine the viability of the prevent program. The samples were heel stick collected and through blood cord. Electrophoresis procedures and cytological and biochemical analysis were made for the abnormal hemoglobins characterization. From April, 98 to November, 99, 1478 neonatal blood samples were analyzed from Hospital de Base, São José do Rio Preto, in which 239 (16,17%) hemoglobins alterations could be found, emphasizing 49 (3,32%) with Hb S, 9 (0,61%) with Hb C, 110 (7,44%) with suggestive alpha thalassemia, 23 (1,55%) with suggestive beta thalassemia, and 48 (3,25%) with other phenotypes. The samples collected from the blood cord showed effectiveness in all analyses suitable while the blood samples hell stick collected, in filter paper, were applicable only to specific methodologies. The methods from laboratory routine allowed the identification of thalassemic forms and of variant forms, and isoeletric focusing presented sensitivity only for variants identification in this average life period. The hemoglobinopathy suspected cases were reassessed after six months and they were led to genetic counseling and clinic attendance with their family members. The multiprofessional approach in programs of this kind is fundamental for its success.