RESUMO
We describe two patients with clinical and cytogenetic findings consistent with DiGeorge/velocardiofacial syndrome who had recurrent cytopenias at presentation. Our observations suggest that recurrent cytopenias may be part of the clinical spectrum of deletion 22q11.2. We also suggest that the diagnosis of DG/VCF syndrome be considered in patients with unexplained recurrent immune cytopenias in association with cardiac lesions, subtle craniofacial dysmorphisms, and/or learning or behavioral impairments.
Assuntos
Anemia Hemolítica Autoimune/genética , Deleção Cromossômica , Cromossomos Humanos Par 22 , Síndrome de DiGeorge/genética , Trombocitopenia/genética , Adolescente , Anemia Hemolítica Autoimune/diagnóstico , Anemia Hemolítica Autoimune/imunologia , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/imunologia , Diagnóstico Diferencial , Feminino , Humanos , Contagem de Linfócitos , Masculino , Recidiva , Trombocitopenia/diagnóstico , Trombocitopenia/imunologiaRESUMO
Surface-mediated reactions of clotting were compared in 21 black children with homozygous sickle cell disease, 12 age-matched controls, and 15 adults. Both the coagulant and antigen titers of Hageman factor (factor XII) were decreased in asymptomatic patients compared with those in the control groups. These findings were associated with slight but significant reductions in the plasma titers of prekallikrein and high molecular weight kininogen. A further decrease from the initially low titers of these contact factors was observed during vaso-occlusive crises. Additionally, we observed a disparate relationship between Hageman factor coagulant activity and its antigen titers. These data provide evidence for reduction of the contact factors in patients with homozygous sickle cell disease.
Assuntos
Anemia Falciforme/sangue , Coagulação Intravascular Disseminada/sangue , Fator XII/análise , Calicreínas/análise , Cininogênios/sangue , Pré-Calicreína/análise , Adolescente , Adulto , Anemia Falciforme/complicações , Criança , Pré-Escolar , Coagulação Intravascular Disseminada/complicações , Feminino , Humanos , Lactente , MasculinoRESUMO
Beta-thalassemia trait is a frequent cause of microcytic anemia in Mediterranean children. Because striking age-related changes occur in hemoglobin and mean corpuscular volume during childhood, we assessed developmental hematologic characteristics of 132 patients less than or equal to 18 years of age with beta-thalassemia trait. Thirty-nine kindred were studied to examine intrafamilial correlations of hematologic abnormalities. Patients with beta-thalassemia trait demonstrated Hgb values about 2 gm/dl below normal standards, with a progressive rise with age paralleling normal trends. Thalassemic MCV values showed a far greater deviation from normal than Hgb levels. In contrast to normal developmental trends which show a sharp increase in the first five years of life, the MCV in thalassemia trait showed no age-related increase prior to adolescence. No age-related changes in hemoglobin A2 levels were noted. Kindred studies demonstrate a correlation of the degree of anemia, microcytosis, and elevated hemoglobin A2 levels in affected family members (r = 0.318 P < 0.004, r = 0.525 P < 0.001, r = 0.416 P < 0.0015, respectively). Our findings support the use of electronically determined MCV values as an initial screening procedure for children with beta-thalassemia trait. Values of < 70 fl prior to adolescence and < 75 fl during adolescence were present in nearly all thalassemic subjects. Intrafamilial correlations of Hgb, MCV, and hemoglobin A2 levels suggest that these characteristics are genetically determined.