Fragile X syndrome and myelodysplasia discovered during pregnancy.

We describe a female patient who presented at pregnancy with leucopenia and was found to suffer from both fragile X syndrome [Fra(X)] and myelodysplastic syndrome with cytogenetic abnormalities in bone marrow cells including 4q+ and deletion D13. To date only four cases of Fra(X) syndrome with malignant tumours (one haematological), all in male patients, have been reported. We believe that the occurrence of the myelodysplastic syndrome in this patient could be more than coincidental.

Chronic active hepatitis following splenectomy for autoimmune thrombocytopenia.

Two patients with immune thrombocytopenic purpura underwent splenectomy following the failure of steroid therapy. In neither patient was there evidence of liver disease prior to the splenectomy. Both had autoimmune parameters before the operation. They both received blood compounds; one patient remained negative for hepatitis B surface antigen (HBsAg) and antibodies, and the other had anti-HBs and anti-HBc. Antibodies for hepatitis C virus were found in both patients. In the two patients hepatitis developed 4 and 6 weeks, respectively, following splenectomy, and liver biopsies performed 6 months and 2 years post splenectomy revealed chronic active hepatitis. The relationship between the two disorders is discussed and a possible role of the splenectomy in the development of chronic active hepatitis in these two cases is suggested.

Th polyagglutination with fatal outcome in a patient with massive intravascular hemolysis and perforated tumor of colon.

Polyagglutination is a rare disorder which has been associated with intravascular hemolysis (Levene et al.: Transfus Med Rev 2:176-185, 1988). In this condition cryptantigens exposed on the red blood cell membrane agglutinate with compatible sera and with lectins. A 76 year-old man with an acute abdomen due to a perforated tumor of the colon and severe fatal intravascular hemolysis is described. Th polyagglutination of the red blood cells was found.

Characterization of a neuraminidase from Corynebacterium aquaticum responsible for Th polyagglutination.

Th polyagglutinability is characterized by the agglutination of the red blood cells (RBC) by Arachis hypogaea, Medicago disciformis, Vicia cretica but, in contrast to the T phenomenon, not by Glycine max (Glycine soja). Because Th transformation of RBC has been obtained in vitro, the mechanism of Th polyagglutinability expression has been studied and reproduced experimentally. An enzyme with neuraminidase specificity has been isolated from the culture supernatant of Corynebacterium aquaticum, and further characterized (MW = 55,600 kDa, pH = 5.5, Km = 0.138 microM, Kcat = 0.22 micrograms). Reversely, Th transformation of RBC could be obtained by using other neuraminidases but in very mild conditions of hydrolysis. From our results, it can be concluded that by the release of less than 20 micrograms of sialic acid per 10(10) RBC, Th reactivity can be induced whereas hydrolysis of greater amounts of sialic acid (greater than 20 micrograms/10(10) RBC) give the classical T polyagglutinability.

Exposure of cryptantigens on erythrocytes in patients with breast cancer.

One hundred thirty-two patients with breast cancer were examined for exposure of cryptantigens on their erythrocytes (RBC) using a lectin panel consisting of Arachis hypogaea and Glycine soja. Eight had exposed cryptantigens; of the eight, five were classified with additional lectins as T-polyagglutination type and three as Th-polyagglutination. A control group of 300 healthy blood donors had no exposed cryptantigens on their RBC. These findings could not be correlated with the staging of the tumor, extension of metastases, or positive estrogen or progesterone receptors of malignant tumor cells. Only one study has been found that describes the incidence of agglutination of erythrocytes from cancer patients using a monoclonal antibody, which detected an epitope on the RBC from cancer patients and was considered to be distinct from the antigen bound by naturally occurring anti-T. Studies have been made describing polyagglutinable sites on breast cancer tumor cells, where there was a much higher incidence. This discrepancy can be explained either by a difference in the methods used to search for cryptantigen exposure on the various types of cells, or by the existence of a different mechanism, which causes the exposure of cryptantigens on RBC as opposed to malignant breast tumor cells.

Exposure of T-cryptantigen on red blood cells in a patient with angiomyolipoma.

A case of angiomyolipoma with cryptantigen exposure on the red blood cells is described. The exposed cryptanigen was classified with lectins as T-polyagglutination. This is the first case described of T-cryptantigen exposure associated with angiomyolipoma.

Polyagglutination in hospitalized patients: a prospective study.

A hospital population at high risk for red cell polyagglutination was studied prospectively in search for cryptantigen exposure. The patients included in this study suffered from: malignancies, sepsis, direct antiglobulin test (DAT) negative anemias and various combinations of these three. 238 patients were examined, and 18 of these (7.6%) were found to have exposed cryptantigens on their erythrocytes. This is an unexpectedly high percentage. Our findings suggest that cryptantigen exposure on the red cells is a more common phenomenon than previously described, especially when looked for in a carefully chosen population. The red cells of these patients are potentially polyagglutinable, and screening with lectins will ensure their pretransfusion identification and evaluation.

Tx polyagglutination in three members of one family.

A case of acute haemolytic anaemia is described in a child. Tx polyagglutination of his red cells was observed, but no direct association with the anaemia could be proved. Polyagglutination was suspected because of irregularities in the AB0 blood grouping. Confirmation of the cryptantigen Tx was made when the patient's red cells were tested with lectins including Arachis hypogaea, Glycine soja, and Vicia cretica. Examination of family members showed Tx polyagglutination on the red cells of 2 siblings. The Tx polyagglutination was a transient phenomenon lasting 4-5.5 months, and could have been caused as the result of some unidentified bacterial or viral infection. Guidelines for transfusion therapy are suggested in patients in whom polyagglutination is recognised.