RESUMEN
Hereditary spherocytosis (HS) is a congenital and hemolytic anemia characterized by the presence of microspherocytes on the peripheral blood film and negative Coombs test. Although HS is a heterogeneous syndrome in terms of clinical severity, inherents and underlying molecular defects (deficiency of membrane skeleton proteins), typical HS has a dominant inheritance pattern and presents anemia, jaundice and splenomegaly. The purpose of this study was to present our experience and to establish the relationship between hematological and biochemical parameters and osmotic fragility and autohemolysis, all of them considered as traditionally available tests. In our environment, HS is the second most common inherited anemia after beta thalassemia trait. The diagnosis was based on osmotic fragility measurements, autohemolysis test and microspherocytes in 47 patients (45 of latin, 2 of saxon origin); 12 patients had a negative family history. Mean values: RBC (x 10(12)/L) and Hb (g/dL): children (22): 3.84/10.5; adults (25): female (13): 3.54/10.59; masculine (12): 4.65/13.15. Autohemolysis (average
) was very much increased (15.54) and it was corrected by the addition of glucose (4.07). Median osmotic fragility (average g/dL) was increased in both fresh (0.48) and incubated blood (0.65). 76.5
children and 26.7
adults had absence of haptoglobin. Reticulocytes, indirect bilirubin and LDH were increased (average values 336.35 x 10(9)/L, 36.25 mmol/L and 236.48 UI/L, respectively). Microcytosis, spherocytosis, polycromatophylia, acanthocytosis, basophilic stippling, pincered cells were observed in 43, 41, 41, 12, 11, 1 patients respectively. Morphologic alterations were more marked in children. The laboratory findings seemed more a consequence of microcytosis than of spherocytosis.
RESUMEN
The expansion of paroxysmal nocturnal hemoglobinuria (PHN) clone was evaluated in a patient with aplastic anemia (AA) of 18 years of evolution during an hemolytic crisis. On day 0, Ham and Sucrosa tests were positive and hematological parameters were altered. Low hemoglobin (Hb) levels and erythrocyte and leukocyte counts were found and continued decreasing on days 7 and 24 (last day of study). High LDH levels, indirect bilirubin and reticulocyte counts were detected throughout. We evaluated CD55 and CD59 on erythrocytes by flow cytometry. Our results showed low CD55 expression with respect to the normal pattern. Since day 0, CD59 staining detected two red cell populations: PNH I (48
), cells with positive fluorescence similar to normal and PNH III (52
), negative cells (PNH clone). These negative cells increased, reaching 70
on day 24. Other membrane anchored leukocyte proteins were also absent (CD14) or decreased (CD16). We found a good correlation between clinical observations, evolution of the laboratory values and expansion of the PNH clone.
RESUMEN
Se describe la aparición de una hemoglobina inestable en una paciente de sexo femenino, de 66 años de edad, con diagnóstico de policitemia vera y diabetes tipo II. La primera se rotuló de acuerdo a los criterios del PVSG cumpliendo con los tres criterios mayores (aumento de masa globular, saturación arterial de oxígeno > ou = 92% y esplenomegalia) y dos criterios menores (leucocitosis y score aumentado de la fosfatasa alcalina leucocitaria). A 11 meses de evolución, durante los cuales se trató con flebotomías, aparecieron alteraciones en la morfología eritroide que orientaron al estudio de hemoglobinopatías. Se realizaron entre otras técnicas: electroforesis de hemoglobina, desnaturalización frente al calor, precipitación con isopropanol, tinción para cuerpos de Heinz. Se confirmó la presencia de una probable hemoglobina inestable. Asimismo se evaluó el carácter adquirido de esa hemoglobina haciendo un estudio paralelo a sus dos hijas. Una fue hematológicamente normal y en la otra se diagnosticó ß-talasemia minor, heredada por rama paterna. Por lo tanto, sería importante el seguimiento de síndromes mieloproliferativos através de la morfología eritroide para detectar, por ejemplo, la aparición de hemoglobinas inestables adquiridas (AU)
Asunto(s)
Anciano , Humanos , Femenino , Hemoglobinas Anormales/análisisRESUMEN
We present studies on the evolution of HIV-1 infection in 638 hemophilic patients receiving commercial antihemophilic concentrates (CAH) at the Institute of Hematological Research and the Argentine Foundation of Hemophilia between 1983 and 1990. Positive serology for HIV-1 was detected in 30
of the patients studied. Prevalence of HIV-1 infection was higher (about 70
) in the group with severe hemophilia requiring more CAH, but there were no differences between patients with hemophilia A or B. Sexual transmission was demonstrated in 8/64 women (13
) with stable sexual relationship with HIV-1 + hemophilic patients. Three of them became pregnant, and HIV-1 infection was demonstrated in two of the three children. In general, the clinical evolution, as well as the hematologic and immunologic parameters of infected patients were similar to those described for the hemophilic population in other occidental countries. Opportunistic infections were also those observed elsewhere (with predominance of P. carinii pneumonia and disseminated Candida infections). However, the presence of fatal chagasic encephalitis in two of the patients with AIDS is unusual. Thus, central nervous system localization of T. cruzi (which can be observed during the acute period of T. cruzi infection or in immunosuppressed patients), must be considered as a possible severe complication of HIV-1 disease in T. cruzi infected patients.
RESUMEN
We present studies on the evolution of HIV-1 infection in 638 hemophilic patients receiving commercial antihemophilic concentrates (CAH) at the Institute of Hematological Research and the Argentine Foundation of Hemophilia between 1983 and 1990. Positive serology for HIV-1 was detected in 30
of the patients studied. Prevalence of HIV-1 infection was higher (about 70
) in the group with severe hemophilia requiring more CAH, but there were no differences between patients with hemophilia A or B. Sexual transmission was demonstrated in 8/64 women (13
) with stable sexual relationship with HIV-1 + hemophilic patients. Three of them became pregnant, and HIV-1 infection was demonstrated in two of the three children. In general, the clinical evolution, as well as the hematologic and immunologic parameters of infected patients were similar to those described for the hemophilic population in other occidental countries. Opportunistic infections were also those observed elsewhere (with predominance of P. carinii pneumonia and disseminated Candida infections). However, the presence of fatal chagasic encephalitis in two of the patients with AIDS is unusual. Thus, central nervous system localization of T. cruzi (which can be observed during the acute period of T. cruzi infection or in immunosuppressed patients), must be considered as a possible severe complication of HIV-1 disease in T. cruzi infected patients.