RESUMO
One hundred patients with homozygous or doubly heterozygous beta-thalassemia (62 with the major form and 38 with beta-thalassemia intermedia) were examined for signs of Pseudoxanthoma elasticum (PXE). Diagnostic skin lesions were found in 16 patients with either form of the basic disease. Twenty percent of all patients had angioid streaks (AS); both PXE skin lesions and AS were found in 10% of the patients; in all, 26% had either one or both of these manifestations. A positive correlation was found between the presence of one or both types of lesion and age of the patients (P = 0.032); there were no differences as regards ferritin and hematocrit levels, number of transfused units, chelation therapy, and splenic status between patients with PXE/AS findings and those without. The pathogenesis of these connective tissue manifestations at such a high frequency in beta-thalassemia is not clear; the possibilities of it's being acquired or inherited are discussed, the former being considered to be the more economical interpretation.
Assuntos
Estrias Angioides/complicações , Pseudoxantoma Elástico/complicações , Dermatopatias/complicações , Talassemia beta/complicações , Adolescente , Adulto , Estrias Angioides/epidemiologia , Estrias Angioides/patologia , Feminino , Ferritinas/análise , Hematócrito , Heterozigoto , Homozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Pseudoxantoma Elástico/epidemiologia , Pseudoxantoma Elástico/patologia , Dermatopatias/epidemiologia , Dermatopatias/patologia , Talassemia beta/genética , Talassemia beta/patologiaRESUMO
The question of the mechanism of the physiological anemia of childhood was reexamined; we took into consideration the fact that microcytosis is a feature of this anemia as well as the evidence suggesting that the 2,3 DPG/hemoglobin ratio may depend in part on red cell size. In a group of normal, not-iron deficient children a high inverse correlation was obtained between the MCV and the 2,3 DPG/Hb ratio; this latter ratio did not correlate with serum phosphorus levels, previously incriminated in the indirect causation of the anemia of childhood.
Assuntos
Anemia/etiologia , 2,3-Difosfoglicerato , Anemia/sangue , Criança , Pré-Escolar , Ácidos Difosfoglicéricos/sangue , Índices de Eritrócitos , Eritrócitos Anormais/patologia , Feminino , Hemoglobinas/análise , Humanos , Masculino , Fósforo/sangueRESUMO
Clinically severe thalassaemia and Hb S syndromes are a major public health problem in Greece. A wide programme aiming at reducing the births of new cases is under way; it comprises (a) carrier identification either at a premarital stage or prior to the birth of first child and (b) prenatal diagnosis. Participation is voluntary and free of charge. Reduction of births of affected children has been obtained to a very large extent.