RESUMO
A cord-blood screening program, designed primarily for detecting sickle cell disease, has been in operation for seven months (8 000 samples) at a large maternity unit in Kingston, Jamaica. We describe techniques of cord-blood collection and electrophoretic investigation on both cellulose acetate and agar gel. These methods appear to give rapid, valid results at minimal expense and are well adapted to screening large populations (AU)
Assuntos
Humanos , Recém-Nascido , Anemia Falciforme/sangue , Cordão Umbilical , Ágar , Anemia Falciforme/genética , Sangue , Coleta de Amostras Sanguíneas , Celulose , Eletroforese , Frequência do Gene , Programas de Rastreamento , Métodos , JamaicaRESUMO
Hemoglobin O Arab (O2á2 121 Glu leads to Lys) was found in 25 members of four apparently unrelated Negro families in the West Indian island of Jamaica. In each family the propositus had Hb SO disease. Two cases had been mistakenly diagnosed as Hb SC disease. Two persons heterozygous for both Hb C and Hb O Arab were found in these families, and Hb O Arab á thalassemia in one other relative. The clinical course and symptomatology of Hb SO disease is comparable to that in Hb SD(O2á2 121 Glu leads to GluNH2) disease and more severe than Hb SC disease. In vitro mixtures of Hb O Arab and Hb S change from a liquid to a gel phase at total hemoglobin concentrations weaker than those required to gel pure Hb S, whereas mixtures of Hb C require a stronger total hemoglobin concentration before gelling will occur. Oxygen dissociation studies on red cells containing Hb SO show a homozygous sickle-cell anemia and outside the range for subjects with sickle-cell Hb C disease.(AU)
