RESUMO
A fetal haemoglobin variant was noted in a healthy Jamaican infant of mixed African/Chinese extration. A two-dimensional chromatogram of the soluble tryptic peptides (Tp) showed 2 'new' ones. One was composed of the last 4 residues of the usually insoluble Tpgamma41-59. To permit a tryptic split this required a change of residue gamma 55 Met to Lys or Arg. The other new Tp contained arginine and was in the position expected for a Ty gamma41-55 (55 Arg). As the material was limited it could not be analysed. When after more than 6 years no example of Hb F Kingston had become available it was decided to describe the variant on the basis of the present evidence. (AU)
Assuntos
Humanos , Lactente , Feminino , Hemoglobina Fetal/análise , Hemoglobinas Anormais/análise , Sequência de Aminoácidos , Sangue Fetal/análise , Tripsina/metabolismoRESUMO
Two siblings assumed on the basis of clinical and hematological evidence to have homozygous sickle cell (SS) disease were found to have a mother without sickle hemoglobin. Subsequent investigation and hemoglobin structural studies indicated the diagnosis to be sickle cell-Hb Lepore Boston syndrome. This syndrome generally manifests clinically significant sickle cell disease, and this genotype should be borne in mind in apparent SS disease where a parent without sickle hemoglobin is discovered.(AU)
Assuntos
Humanos , Criança , Masculino , Feminino , Anemia Falciforme/genética , Hemoglobinas Anormais , Traço Falciforme/genética , Aminoácidos/análise , Diagnóstico Diferencial , Homozigoto , Linhagem , Traço Falciforme/diagnóstico , Síndrome , Talassemia/diagnósticoRESUMO
Monoclonal antibodies specific for human globin chains have been prepared and the following strategy has been applied in delimiting the antigenic sites involved in antibody binding. The structural sites of the human globin subunit that might be recognised by the monoclonal antibody were deduced from comparisons of the primary structures of mamalian globin chains that did or did not react with the antibody. The involvement of individual residues at these specific sites was subsequently tested by reacting the antibody with abnormal human haemoglobins in which there was either a substitution or a structural site recognised by monoclonal antibody HuHb á 3-2 (an antibody that reacts with the adult haemoglobins from man and macaque monkey, but not with those from baboon and mouse) includes the aspartic acid residue at position 52 of the á-globin subunit.(AU)
Assuntos
Anticorpos Monoclonais , Epitopos , Hemoglobinas/imunologia , Anticorpos Monoclonais/genética , Especificidade de Anticorpos , Globinas/genética , Hemoglobinas/genética , Hemoglobinas Anormais/imunologia , Macaca , Papio , Especificidade da Espécie , Variação GenéticaRESUMO
In an electrophoretic study of 15,661 Jamaican cord bloods, 8 rare beta-chain variants were found in 18 subjects in addition to the common beta-chain variants, Hb S and Hb C. The heterozygote frequencies for Hb S and Hb C were 10.1 percent and 3.7 percent respectively. The most frequent of the rare beta-chain variants were Hb Korle Bu (beta 73 Asp leads to Asn) (7 cases) and Hb O su-Christiansborg (beta 52 Asp leads to Asn) (3 cases). One new beta-chain variant, Hb Caribbean (beta 91 Leu leads to Arg) was found. (AU)
Assuntos
Humanos , Recém-Nascido , Masculino , Feminino , Sangue Fetal , Hemoglobinas Anormais/genética , Variação Genética , Cromatografia por Troca Iônica , Eletroforese em Gel de Amido , Hemoglobina E/genética , Hemoglobina Falciforme/genética , JamaicaRESUMO
Members of a Jamaican family carring the alpha-chain variant haemoglobin Hb G alpha Philadelphia have been found also to show red cell abnormalities suggestive of a mild thalassemia trait. Hb G alpha Philadelphia differs from most other alpha-chain variant haemoglobins by being present in unusually high percentage in heterozygotes (Hb A + Hb G alpha Philadelphia). It is proposed that the gene for this variant is linked with the one for alpha-thalassemia (Summary)
