RESUMEN

These siblings of a Czech family aged 21, 19 and 6 years, respectively, with congenital dyserythropoietic anemia, type II, (HEMPAS) are reported. In two elder siblings ferrokinetic studies revealed a rapid plasma 59Fe clearance, markedly decreased erythrocyte incorporation and shortened 51Cr red-cell survival. Direct anti-globulin test was found positive in one of them. Further investigations revealed low values of blood plasma cholesterol, total lipids, beta-lipoproteins, beta-carotine and vitamin E and A as well as low values of the prothrombin complex. Liver biopsy demonstrated siderosis and disseminated intravascular coagulation in the liver in both patients. The possible reasons for these humoral aberrations are discussed.

Asunto(s)

Anemia Diseritropoyética Congénita/genética , Anemia Hemolítica Congénita/genética , Adolescente , Adulto , Anemia Diseritropoyética Congénita/sangre , Anemia Diseritropoyética Congénita/patología , Médula Ósea/patología , Niño , Checoslovaquia , Eritroblastos/ultraestructura , Eritrocitos/ultraestructura , Humanos , Hígado/patología , Masculino