摘要:

The α-thalassaemias are group of inherited anaemias. Their severity is known to increase with the number of α-globin genes deleted. Employing different types of restriction enzymes, we found that α-thalassaemia-2 are more common than held previously. On the basis of our results we also anticipate that the haplotype αααanti 3·7/ occurs at a higher fre

ISSN:0001-5792    

DOI:10.1159/000204680

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

In this study 21 adults with severe form of sickle cell disease (SCD; sickle cell anaemia, n = 15; Hb S/β°-thal, n = 6) were treated with hydroxyurea (HU) to assess the effectiveness of the drug in managing SCD. The individual dose was selected for each patient. The dose selection was based on the HU clearance study. Thereafter, the patients received daily doses of 15-20 mg/kg body weight. An evaluation data form was filled out at the monthly visit. The severity index (SI) of the disease was determined and haematological parameters including red cell indices, platelet counts, reticulocyte counts, irreversibly sickled cells, red cell deformability, Hb F, Hb F cells, total and direct bilirubin levels were measured prior to treatment, at follow-up intervals during treatment and after cessation of treatment. The trial period lasted 3 months. Statistically significant improvement was observed in the clinical presentation, haematological and biochemical parameters. Hb F level and F cells showed a significant increase in most patients, but to a variable degree. A major resultant effect was an increase in mean cell volume. Our experience shows that HU can be used for the treatment of severe forms of SCD with no major side effects, provided that the doses are monitored and that laboratory investigations are regularly undertake

ISSN:0001-5792    

DOI:10.1159/000204681

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

A relationship between erythropoietin (EPO) and erythroid colony-stimulating activity (ECSA) in mouse plasma was examined in fetal mouse liver cell (FMLC) cultures using a monoclonal antibody (MoAb) R2 raised against re-combinant human EPO. Most of the ECSA in plasma from normal, anemic, and hypoxic mice was neutralized by MoAb. This neutralization could be reversed by addition of excess of anemic plasma or by preincubation of MoAb with goat anti-mouse IgG antibody. Most of the plasma ECSA was bound to an immunoadsorbent column containing the immobilized MoAb, and the retained ECSA was completely neutralized by MoAb. The plasma ECSA and standard EPO showed parallel dose-response curves and additive effect on CFU-E stimulation. Based on these findings, we conclude that mouse plasma ECSA detected by CFU-E assay using FMLCs is mainly due to EPO.

ISSN:0001-5792    

DOI:10.1159/000204682

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

Serum selenium concentration was investigated in 40 children with iron deficiency anemia and in 40 control subjects matched for age, sex and geographical origin. A spectrofluorometric method was used for determination of the selenium level. It was found to be significantly lower (p < 0.001) in the patient group, which consisted of both normally developed and malnourished children. Patients also having pica had higher levels of selenium compared to patients without pica. There was no relation between the serum selenium concentration and hematological parameters such as hemoglobin, serum iron, serum iron binding capacity and unsaturated iron binding capacity. However the results of 15 patients followed during iron therapy indicated that the duration of the anemic period may affect the selenium concentration. This study also suggests the effectiveness of iron and selenium administration.

ISSN:0001-5792    

DOI:10.1159/000204683

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

The effect of total-body cold exposure on plasma concentrations of von Willebrand factor (vWF), endothelin-1 (ET) and thrombomodulin (TM), all of which are considered to be generated from the endothelium, was studied in systemic lupus erythematosus (SLE) patients with and without Raynaud’s phenomenon. The plasma levels of vWF, ET and TM in SLE patients, irrespective of the presence of Raynaud’s phenomenon, were significantly higher than in normal controls even before the cold provocation test. After the cold provocation test, plasma levels of vWF and ET were significantly higher in SLE patients with Raynaud’s phenomenon than in those without and in normal controls. No significant increase in TM was observed in either the SLE patients or the controls. These results suggest that SLE patients, regardless of the presence of Raynaud’s phenomenon, are in a hypercoagulable state and that this state may be further intensified by cold exposure. Hence, it is concluded that we should consider antithrombotic therapy for SLE patients, especially those with Raynaud’s phenomenon, to prevent unwanted activation of the coagulation system and possible endotheli

ISSN:0001-5792    

DOI:10.1159/000204684

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

Congenital severe dysfibrinogenemia was discovered in a small Saudi family. Their single child exhibited abnormal severe bleeding tendency since birth and his coagulation profile revealed evidence of severe dysfibrinogenemia. The parents who were first-degree cousins and completely asymptomatic showed evidence of dysfibrinogenemia but to lesser degree than in their son. The child presented with large cephalhematoma and evidence of intracranial hemorrhage and left hemiparesis. He was treated with cryoprecipitate and his hematoma resolved, but his neurological deficit remained.

ISSN:0001-5792    

DOI:10.1159/000204685

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

Triplets born to a Chinese woman consisted of 2 healthy boys and a girl with hemoglobin Bart’s hydrops syndrome. The girl with hemoglobin Bart’s hydrops syndrome, confirmed by gene analysis to be homozygous for α-thalassemia-1, survives for 27 months at the time of reporting. The dilemma in sustaining her life and the availability of other therapeutic options are briefly discussed. This is the third case report of homozygous α-thalassemia-1 with long-term sur

ISSN:0001-5792    

DOI:10.1159/000204686

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

A 27-year-old male developed massive generalized lymphadenopathy with chronic myelomonocytic leukemia (CMML) presenting as extramedullary blast crisis mimicking a lymphocytic lymphoma. On presentation, a consistent chromosomal abnormality involving chromosomes 8 and 13, i.e. 46, XY, t(8;13) (q11;p11), was present in lymph node tissue, bone marrow and unstimulated peripheral blood. The appearance of trisomy 21 in addition to the presence of the original cytogenetic abnormality is simply regarded as clonal evolution, i.e. 47, XY, t(8;13)(q11;p11),+21. The importance of the cytogenetics lies in finding the same abnormality in bone marrow and lymph node, adding evidence that the immunologically similar cells in the two sites have arisen from a common progenitor cell. To our knowledge, this novel chromosomal abnormality has not been reported in association with a unique case.

ISSN:0001-5792    

DOI:10.1159/000204687

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

Although polycythemia vera is one of the reported causes for cerebral infarction, isolated cerebellar infarction, a rare disorder, was never reported in combination with polycythemia vera. This is a report of a 72-year-old woman in whom isolated cerebellar infarction was the presenting manifestation of polycythemia vera. The patient was treated with recurrent phlebotomies until the hematocrit decreased to < 45%. This treatment was followed by marked neurological improvement. A better awareness of the possibility of cerebellar infarction in polycythemia vera may disclose additional cases.

ISSN:0001-5792    

DOI:10.1159/000204688

出版商:S. Karger AG    

年代:1992

数据来源: Karger

摘要:

The mechanism of eosinophilia in a patient with adult T cell leukemia (ATL) was investigated. A 61-year-old woman with ATL presented marked eosinophilia. No parasite infections or allergic diseases were found in this patient. The number of eosinophils fluctuated in parallel with that of ATL cells during her clinical course. The patient’s serum and the culture supernatant of ATL cells showed eosinophil colony-stimulating activity. Northern blot analysis of granulocyte-macrophage colony-stimulating factor (GM-CSF), interleukin-3 (IL-3), and interleukin-5 (IL-5), which are known eosinophil CSFs, showed that only GM-CSF but not IL-3 or IL-5 was expressed in freshly separated and cultured ATL cells. Since neutrophil and monocyte numbers did not increase, it is suggested that GM-CSF and unknown cytokines other than IL-3 and IL-5 produced by ATL cells synergistically stimulated eosinophil precursors in the present cas

ISSN:0001-5792    

DOI:10.1159/000204689

出版商:S. Karger AG    

年代:1992

数据来源: Karger