摘要:

AbstractUsing hematological and gene mapping techniques, a cord blood survey was carried out to estimate the frequency of α‐thalassemia in the Greek population. Out of 227 newborns studied, 16 (7.05%) were found by gene mapping to be α‐thalassemia 2 heterozygotes (‐α/αα), and of these only two had increased levels of hemoglobin Bart's in the cord blood (1.2 and 2.0%). Similarly, one heterozygote for the common Mediterranean α‐thalassemia 1 haplotype (–/αα) and one for the 20.5‐kb deletion type (‐α)20.5/αα) were found, showing increased levels of Bart's of 4.8 and 6.6%, respectively. Four (1.76%) heterozygotes for the triple α gene arrangement (ααα/αα) were found. One individual with a level of Bart's in the cord blood of 8% was found to be a double heterozygote for α‐thalassemia 2 and a dysfunctional α gene arrangement (‐α/‐(α)?). These results give an overall incidence for α‐

ISSN:0361-8609    

DOI:10.1002/ajh.2830220302

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

年代:1986

数据来源: WILEY

摘要:

AbstractIntense fibrinolytic activity (FA) by granulocytes, mononuclear adherent cells, and natural killer (NK) cells was demonstrated by using125I‐fibrin‐coated wells. This FA was greatly dependent on serum plasminogen, provided that serum inhibitors were destroyed by heating at 56°C. Using monoclonal antibodies, it was also observed that these leukocytes produce urokinase and that this enzyme is secreted during adhesion by mononuclear adherent cells and during the cytotoxicity reaction against neoplastic cells by NK cells. Since cell intactness is necessary for leukocyte‐serum interaction, stress is placed on the membrane function. We conclude that leukocytes are essential in peripheral blood FA and that transport of urokinase by circulating cells, inside their cytoplasm, could offset its lack of affinity for fibrin and thus avoid undesirable systemic e

ISSN:0361-8609    

DOI:10.1002/ajh.2830220303

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

年代:1986

数据来源: WILEY

摘要:

AbstractSeventeen adult patients with chronic (15 cases) or acute (two cases) autoimmune thrombocytopenia (ITP) were given intravenous and/or intramuscular injections of 0.75–4.5 mg of IgG anti‐Rho(D) over a period of 1–5 days. Significant elevations of the platelet count (increments>50 × 109/liter) resulted in 13 of 15 Rh‐positive patients but not in either of two Rh‐negative patients. Heat‐aggregated human albumin given to one of the Rh‐negative patients also did not lead to a significant increase of the platelet count. The elevation of the platelet counts in Rh‐positive patients after IgG anti‐Rho(D) administration was often transient (5 months) was achieved in five cases. The IgG concentration on RBC from five Rh‐positive patients studied increased from a usually undetectable value before to ∼ 700–1,700 IgG molecules/per RBC after anti‐RhoD) administration resulting in a strongly positive direct antiglobulin test. Nevertheless, an overt clinical hemolysis was seen in only one patient. The clearance of autologous51Cr‐labeled RBC was determined in four patients and was slightly enhanced in three and normal in one splenectomized patient.We conclude that the Fc receptor blockade involved in platelet sequestration was not associated with the induction of significant RBC clearance and that a reversible interaction of sensitized RBC with phagocytic cells and/or a low‐grade destruction of these cells might be sufficient for the elevation of circulating platelets in t

ISSN:0361-8609    

DOI:10.1002/ajh.2830220304

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

年代:1986

数据来源: WILEY

摘要:

AbstractA panel of monoclonal antibodies recognizing myeloid cell surface differentiation‐associated antigens was used to study the peripheral blood myeloid population of 23 patients with myelodysplastic syndromes (MDS) and 23 controls. A marker for immaturity, defined by the presence of the antigen recognized by the My9 antibody, was found to persist on the surface of mature neutrophils in a subgroup of MDS patients. Abnormal My9 positivity was concentrated primarily, but not exclusively, in previously described morphologically defined subgroups of MDS patients considered to be at highest risk for leukemic conversion. Longitudinal study of a larger number of patients will be required to test the hypothesis that abnormal persistence of My9 may have prognostic significanc

ISSN:0361-8609    

DOI:10.1002/ajh.2830220305

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

年代:1986

数据来源: WILEY

摘要:

AbstractAn AG dinucleotide is an invariant feature of all acceptor splice sites, and deletion or substitution of (one of) these nucleotides will result in abnormal processing of the β‐globin mRNA. Restriction endonuclease mapping of DNA from an American black patient with Hb S‐β0‐thalassemia failed to detect any deletion in the β0‐globin gene region, but cloning and sequencing of the β0‐globin gene showed a point mutation (A → C) in the highly conserved dinucleotide AG of the acceptor splice junction of the IVS‐2. Blot hybridization analysis of RNA prepared from the erythroid cells of the patient showed only RNA of normal size. The patient and her daughter, who has the same condition, have high levels of Hb F (27%–35%); the mechanism responsible for the greatly increased γ chain produc

ISSN:0361-8609    

DOI:10.1002/ajh.2830220306

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

年代:1986

数据来源: WILEY

摘要:

AbstractThe Indian rubber estate workers in Negri Sembilan, Malaysia, who originated from Orissa in India were found to have a high frequency of Hb S (Joishy SK, Hassan K: Clin Res 28:280, 1980). Unlike the usually severe clinical picture of sickle cell anemia seen in African and American blacks, the clinical picture of the disease in this population was mild and many have reached old age. We studied the leukocyte DNA of 12 patients with sickle cell anemia, ranging in age from 4 to 61 years and 30 sickle cell trait carriers, ranging in age from 7 to 63 years, for the presence of α‐globin gene deletions by gene mapping according to Southern (Southern EM: J Mol Biol 98:503, 1975), using α‐ and ζ‐globin gene probes obtained by nick translation of the α‐ and ζ‐globin genes cloned into plasmid. All 12 sickle cell anemia patients were found to have α‐thalassemia2(α‐thal2), either in the homozygous or heterozygous condition. Of the Hb S trait carriers, six did not have α‐that2or or‐thal1and 24 had α‐thal2(15 heterozygous, 9 homozygous). Seven of these Hb S trait carriers with α‐thal2had an additional gene abnormality. Five of them had a fast‐moving Eco RI fragment 5.6 kb long that hybridized with ζ‐specific probe but not with α‐specific probe. An unusual DNA pattern of a different type was further found in the other two. Bgl II restriction analysis showed that the α‐thal2was mostly of the rightward deletion α‐thal2genotype. None of the sickle cell anemia patients and Hb S trait carriers had deletion type α‐thal1. The sickle cell anemia patients had very high levels of Hb F and low levels of Hb A2. The Hb S trait carrie

ISSN:0361-8609    

DOI:10.1002/ajh.2830220307

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

年代:1986

数据来源: WILEY

摘要:

AbstractGranulocyte and platelet recovery as well as platelet transfusion requirements following allogeneic marrow transplantation were analyzed in 67 patients with chronic myelogenous leukemia in the chronic phase. Twenty patients had splenectomy prior to transplantation. Forty‐seven patients were transplanted without splenectomy, 21 of whom had splenic enlargement by physical examination. There were no differences in the proportion of patients with granulocyte recovery, but the recovery of peripheral granulocytes to levels of 200, 500 and 1,000/mm3occurred more rapidly in the splenectomy group than in the no‐splenectomy group. Patients with splenectomy received platelet transfusions for a mean of 10 (2–36) days as compared to 20 (3–82) days for patients without splenectomy (p<.001). Eighteen (90%) patients with splenectomy became platelet transfusion independent at a median of 16 (2–32) days after transplantation as compared to 40 (85%) patients without splenectomy who became transfusion independent at a median of 28 (15–86) days (p<.001). The proportion of patients achieving platelet levels of 50 and 100 × 103/mm3did not differ between the two groups (p = .07), but patients in the splenectomy group achieved these levels more rapidly following transplant (p<.001). One of 17 evaluable patients in the splenectomy group and 31 of 46 in the no‐splenectomy group became refractory to random platelets (p<.001) and required platelets from family members or unrelated completely or partially HLA matched donors. In the no‐splenectomy group, splenic size did not affect the speed of granulocyte or platelet recovery or platelet transfusion requirements. There was no difference in the post‐transplant survival of patients with or w

ISSN:0361-8609    

DOI:10.1002/ajh.2830220308

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

年代:1986

数据来源: WILEY

摘要:

AbstractA new method for antenatal diagnosis of thalassemias is reported based on the analysis of the major Hb components of fetal cord blood, sampled at week 18 of pregnancy under ultrasonic guidance, by isoelectric focusing in immobilized pH gradients (IPG). In an IPG gel encompassing a pH 6.7–7.6 span, HbA and HbFacare separated by a distance nine times greater than in a conventional carrier ampholyte pH 6–8 gel and three times greater than in an ampholine gel with separators (an equimolar mixture of β‐alanine and 6‐amino caproic acid). Band evenness (in terms of uniform protein concentration within a zone) and straightness (in terms of parallel alignment of the bands to the electrodes), because of insensitivity of IPG gels to salt distortions, allows for accurate and reproducible quantitation of HbF, ‐A, and ‐Faclevels. The possibility of greatly overloading IPG matrices in total Hbs increases the sensitivity of the technique to the detection of only 0.5% HbA in the total Hb mixture, the lower limit of conventional IEF being only 2.5% HbA. Of 15 fetuses from couples at risk analyzed in the region of Ozieri, three were found to be homozygous β‐thalassemic, eight heterozygous, and four normal with no false‐positi

ISSN:0361-8609    

DOI:10.1002/ajh.2830220309

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

年代:1986

数据来源: WILEY

摘要:

AbstractThoracic masses resulting from extramedullary hematopoiesis developed in two sisters of Moroccan origin with congenital dyserythropoietic anemia type II (HEMPAS). In one patient, the diagnosis of extramedullary hematopoiesis was confirmed histologically. The appearance of extramedullary foci of hematopoiesis mimicking mediastinal tumors has not been previously described in HEMPAS. These masses result from persistent erythropoietic stimulation associated with chronic hemolytic anemia. In both patients, detection of the asymptomatic masses was preceded by normalization of hemoglobin levels. Thus unexpected correction of a chronic refractory anemia associated with the appearance of mediastinal masses might be the heralding manifestation of an effective extramedullary hemopoiesis.

ISSN:0361-8609    

DOI:10.1002/ajh.2830220310

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

年代:1986

数据来源: WILEY

摘要:

AbstractA variant of von Willebrant disease (vWD) has been identified in a 19‐year‐old woman with a severe bleeding syndrome. She had a very prolonged bleeding time (over 20 min), 24 U/d1 factor VIII coagulant activity (F.VIII:C), 16 U/dl von Willebrand factor antigen (vWF:Ag), no ristocetin cofactor activity, and an anodal mobility of vWF:Ag on crossed immunoelectrophoresis (CIE). vWF:Ag was markedly reduced in her platelet lysate. In plasma and platelets, SDS‐agarose electrophoresis consistently demonstrated the absence of large multimers, a relatively increased concentration of the fastest‐moving multimer, and gross abnormalities of the internal structure of each vWF multimeric unit. Five members from the maternal side of the family had a double vWF:Ag peak by CIE and a relative increase of the fastest‐moving vWF multimer by SDS‐agarose electrophoresis; no quantitative or qualitative vWF defects were found in the paternal side of the family. The pattern of the findings in the propositus and her family is similar to those of type IIC vWD. However, there are some unique characteristics suggesting phenotypic variability in this subtype, such as low level of platelet vWF:Ag and the absence of increase of vWF after DDAVP adm

ISSN:0361-8609    

DOI:10.1002/ajh.2830220311

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

年代:1986

数据来源: WILEY