ß-Thalassemia intermedia and ivs-1 NT6 homozygosis in Brazil

The molecular abnormality of a patient with thalassemia intermedia was identified by DNA amplification (PCR) combined with the of synthetic oligonucleotide probes. The patient is a homozygote for the T===>C substitution at position 6 of the first intervening sequence (IVS1-6) of the ß globin gene. On the basis of this finding, the family, which had been previously reported by us to be a carrier of an unusually mild ß-thalassemia gene, was actually the first example reported of the clinical and biochemical features of ß-thalassemia-Portuguese type

Deletion type alpha-thelassemia among brazilian patients with sickle cell anemia

A frequência de alfa-talassemia determinada entre 41 pacientes com anemia falciforme, empregando análise de DNA com enzimas de restriçäo, demonstrou 9 (22%) heterozigotos alfa+ - talassêmicos (genótipo alfa-/alfa alfa), o que indica uma frequência gênica de 0,126. A comparaçäo dos dois grupos de pacientes com anemia falciforme, com três ou com quatro genes de globina alfa, mostrou VCM menor no primeiro grupo, ao passo que näo foram detectadas diferencas nos valores de HbF, HbA2 e hemoglobina total. Estes dados indicam uma elevada prevalência de alfa-talassemia na populaçäo negróide brasileira