摘要:

AbstractA Turkish family is described in which three children have a clinical picture similar to that of thalassemia major, with typical red cell morphology and indices, and with about 10% Hb Bart's but without measurable amounts of Hb H. Hematological evaluation of six members of this family that included in vitro hemoglobin synthesis suggests that β‐ (or δβ‐) thalassemia, β‐silent thalassemia, and mild and severe α‐thalassemia genes are present in different combinations. The data indicate that β/α chain ratios in patients with more than one type of thalassemia should be evaluated in relationship to values obtained for several relatives even though some of the thalassemia determinants may be silent

ISSN:0361-8609    

DOI:10.1002/ajh.2830020102

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

摘要:

AbstractThe variability in the clinical expression of sickle cell anemia led us to study factors which might influence the course of this disease. We examined erythrokinetics, blood volumes, and variables which influence hemoglobin function in a group of adults with sickle cell anemia of varying degrees of clinical severity. We were unable to correlate any single measurement with the clinical course; however, our patient sample was small and the data suggested areas for further study. An expansion of plasma volume was noted in all patients. This made it difficult to predict red cell mass from the hemoglobin level, which consistently underestimated its magnitude. The red cell production index and iron turnover values indicated that there is often a suboptimal erythropoietic response to anemia in sickle cell disease.

ISSN:0361-8609    

DOI:10.1002/ajh.2830020103

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

摘要:

AbstractIn an ethnic group in southern India, the Irula, seven individuals with sickle cell anemia were found to manifest only mild illness. Although a relatively high level of fetal hemoglobin was present in one, none of the factors thought to ameliorate the course of sickling disorders could be identified in the remaining six. In a random population survey, sickle hemoglobin was found in 90 of 292 Irula (31%). In those with sickle cell trait, the proportion of sickle hemoglobin in hemolysates (mean = 26%, range 19–32%) was substantially lower than that reported for any other populatio

ISSN:0361-8609    

DOI:10.1002/ajh.2830020104

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

摘要:

AbstractPrevious studies of the expression of SV40 genetic information by skin fibroblasts included limited numbers of cell donors and failed to adequately consider possible effects of age, sex, and ethnic origin on assay results. A population of 76 healthy subjects were selected for study following determination of personal and family disease history and karyological analysis. Skin fibroblasts from these individuals were tested for expression of SV40 T‐antigen by indirect immunofluorescent assay. The data were normally distributed and showed no significant differences between the age, sex, or ethnic groups tested. The occurrence of rare karyological anomalies in this control population had no effect on T‐antigen expression. Fibroblasts from 10 Fanconi anemia patients demonstrated significantly elevated expression of T‐antigen compared to the well‐defined control population, based on simple statistical criteria. T‐antigen expression was elevated in two young patients prior to the onset of anemia and did not appear to correlate with the incidence or severity of other specific symptoms. Thus, elevated T‐antigen expression in Fanconi anemia fibroblasts reflects an actual defect at the cellular level, rather than clinical, age, sex, or ethnic factors not previously

ISSN:0361-8609    

DOI:10.1002/ajh.2830020105

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

摘要:

AbstractA family study of a patient with idiopathic hemochromatosis using noninvasive techniques is presented. All 6 of the patient's asymptomatic children had an increase in transferrin saturation and/or an increase in the absorption of Co57. The Co57absorption test was the most sensitive index of family involvement since one of the children had an increase in absorption at a time when transferring saturation was normal. The family data strongly support the hereditary nature of the disorder, with the mode of inheritance not clearly established from the available data.

ISSN:0361-8609    

DOI:10.1002/ajh.2830020106

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

摘要:

AbstractMarrow iron was assessed in needle biopsy sections and in simultaneously obtained aspirated smears and aspirated clot sections from 251 patients. Significantly different amounts of stainable iron were observed in needle biopsy sections and aspirated smears in 15% of the specimens. The usual difference consisted of significantly less stainable iron in needle biopsy sections as compared to the aspirated smears (13%). Of clinical importance was the finding of absent stainable iron in 8% of the needle biopsy sections, in contrast to the definite deposits observed in the corresponding aspirated smear. Of similar interest was the observation that 6% of the needle biospy sections had significantly less stainable iron than corresponding hemosiderotic smears. The amounts of stainable iron in needle biopsy sections were similar to the amounts observed in the corresponding aspirated clot sections. Evaluation of marrow iron using needle biopsy sections as well as aspirated clot sections differs from results observed in aspirated smears and could be a source of significant error in the assessment of iron stores.

ISSN:0361-8609    

DOI:10.1002/ajh.2830020107

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

摘要:

AbstractThe in vitro effects of H2O2on platelet adenine nucleotide metabolism and on the ADP‐induced platelet release reaction were examined. All studies were performed on human platelet‐rich plasma (PRP) preincubated with (3H)‐adenine. Within 3 min of incubation with PRP, H2O2(100–500 μM) caused an irreversible reduction in the (3H)‐ATP level with a concomitant increase in (3H)‐IMP and (3H)‐inosine and hypoxanthine levels. The adenylate energy charge (AEC) initially decreased while the ATP level fell. The AEC, however, returned to levels slightly lower than the control during further incubation. No leakage of ATP and ADP to plasma was observed. The fall in the steady‐state levels of (3H)‐ATP increased with increase of the H2O2concentration (decrease of 8.7–40% at H2O2concentrations from 5 to 600 μM). H2O2pretreatment of PRP caused absence of ADP‐induced biphasic aggregation, partial inhibition of the primary wave, and complete inhibition of release of platelet nonmetabolic ATP and ADP.Our in vitro findings support the view that part of the inhibitory effect of H2O2may be related to the lowering of metabolic

ISSN:0361-8609    

DOI:10.1002/ajh.2830020108

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

摘要:

AbstractSudden, severe thrombocytopenia developed in each of three patients receiving diphenylhydantoin, diazepam, and sulfisoxazole, respectively. Recovery followed discontinuance of the drugs. An antiplatelet antibody requiring the presence of an appropriate drug for interaction with platelets was demonstrated in each case by the51Cr platelet lysis test using normal, paroxysmal nocturnal hemoglobinuric, or enzyme‐treated normal platelets as target cells. These antibodies could not be detected by techniques that depend on clot retraction inhibition, complement fixation, or platelet factor‐3 activation. Quinine‐ and quinidine‐dependent antiplatelet antibodies in the serum of 16 patients who developed acute thrombocytopenia while taking either quinine or quinidine could be demonstrated readily with the51Cr platelet lysis test and could also be detected by other methods e

ISSN:0361-8609    

DOI:10.1002/ajh.2830020109

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

摘要:

AbstractForty‐two patients with chronic lymphocytic leukemia (CLL) were studied for morphology of lymphocytes by light and electron microscopy (EM), in vitro responses of lymphocytes to a battery of physical and chemical agents, overall clinical status, immunologic status, course, and response to therapy. CLL lymphocytes could be classified by EM into four groups on the basis of cell size and nuclear contour and by light microscopy into two groups, small cells and large cells (lymphosarcoma cells). Patient survival did not vary with cell size or morphology as determined by light or electron microscopy. In vitro testing of CLL lymphocytes following exposure to x‐ray, PHA, DMSO 2 hr at 43°, prednisolone, glutaminase, and asparaginase permitted a separation of patients into categories of normal and abnormal in vitro responses. A normal in vitro response predicted a good response to therapy but an abnormal in vitro response did not preclude a good response to therapy. Following therapy, normalization of abnormal EM morphology and in vitro response was seen in some patients. Most patients tested had decreased serum immunoglobulins and abnormal PHA responses. There was a high incidence of infections and second neoplasms. Immunologic deficits could not be correlated with variations in lymphocyte morphology or in vitro resp

ISSN:0361-8609    

DOI:10.1002/ajh.2830020110

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY

ISSN:0361-8609    

DOI:10.1002/ajh.2830020111

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1977

数据来源: WILEY