摘要:

Bone marrow fragments from 10 patients with a megaloblastic anaemia due to vitamin B12 or folate deficiency were studied by electron microscopy and electron microscope autoradiography. A proportion of the erythroblasts showed ultrastructural abnormalities. Some of the cells containing autophagic vacuoles, large siderosomes, iron-laden mitochondria, irregularly shaped nuclei, membrane-bound nuclear clefts, or incomplete nuclear membranes were found to be capable of DNA, RNA and protein synthesis. Other cells showed advanced degenerative changes such as the distension of the perinuclear space, the clumping of cytoplasmic organelles near the nucleus and a reduction in the electron density and ribosome content of the cytoplasm. Most of these grossly abnormal cells suffered from either a marked depression or an arrest in protein and RNA synthesis, and were presumably destined for phagocytosis by reticulum cells.

ISSN:0001-5792    

DOI:10.1159/000207854

出版商:S. Karger AG    

年代:1977

数据来源: Karger

摘要:

Chromosome analyses with banding were performed on six patients with idiopathic acquired refractory sideroblastic anemia (IARSA). One patient was found to have an extra chromosome No. 8, but had a normal level of red cell glutathione reductase. Bone marrow chromosomes from the other patients showed a normal karyotype. 28 patients with IARSA, including our 6 patients, have had chromosomal analyses. Two consistent chromosomal abnormalities have been described: a + 8 in three patients and a 20q- in three others. Despite the presence of chromosomal abnormalities in about one half of the patients, no patient has yet developed acute myelogenous leukemia. Several have died of hemochromatosis. The presence of a chromosomal abnormality appears to have no influence on the early course of IARSA.

ISSN:0001-5792    

DOI:10.1159/000207855

出版商:S. Karger AG    

年代:1977

数据来源: Karger

摘要:

The detection and enumeration of sideroblasts depend critically on the method used for iron staining of bone marrow smears. Several methods proposed for semiquantitative evaluation of bone marrow hemosiderin (iron stores) were compared with respect to their suitability for detection of normal and abnormal sideroblasts. Instead of the customary percentage of sideroblasts, the introduction of a sideroblast score is proposed and its diagnostic relevance was prospectively studied. Low sideroblast scores are associated with iron deficiency and hypoproliferative anemia. A normal sideroblast score, despite the absence of stainable hemosiderin, excludes the diagnosis of severe iron depletion. Elevated sideroblast scores may be correlated either with iron overload and/or sideroblastic (sideroachrestic) anemias.

ISSN:0001-5792    

DOI:10.1159/000207856

出版商:S. Karger AG    

年代:1977

数据来源: Karger

摘要:

Hb A2 was assayed by means of DE-52 microchromatography in hemolysates from 285 normal subjects and 223 β-thalassemia heterozygotes. No overlap was found between both groups. Comparable results were observed analyzing whole blood samples collected in capillary tubes from 550 normal subjects and 295 β-thalassemia heterozygotes. Our results demonstrate that this technique is useful in a screening program for β-thalassemia tra

ISSN:0001-5792    

DOI:10.1159/000207857

出版商:S. Karger AG    

年代:1977

数据来源: Karger

摘要:

The case of a haemolytic non-spherocytic anaemia with pyruvate kinase (PK) deficiency is reported. The investigation concerns two families with a low level of PK. In the propositus and in the members of his family we have also examined the behaviour of some enzymes and the concentration of red cell metabolites. We confirm the heterogeneity of the manifestation and agree that anaemias due to PK deficiency are complex forms in which the enzyme defect is only one of the symptoms.

ISSN:0001-5792    

DOI:10.1159/000207858

出版商:S. Karger AG    

年代:1977

数据来源: Karger

摘要:

A Greek family with hereditary antithrombin III (AT III) deficiency associated with venous thrombosis is reported. 5 members of the family were affected. In these patients, AT III and heparin cofactor activities were decreased. Immunoreactive AT III showed a positive correlation to both AT III and heparin cofactor activities. α2-Macroglobulin and α1-antitrypsin were normal. The pattern of inheritance of the defect is autosomal dominan

ISSN:0001-5792    

DOI:10.1159/000207859

出版商:S. Karger AG    

年代:1977

数据来源: Karger

摘要:

In a girl with atypical acute leukaemia the malignant cell line in peripheral blood and bone marrow during three relapses was found to be tetraploid. The abnormal cells were more proliferative than those usually present in acute leukaemia. The tetraploid DNA content of the blast cells distinguished them from other cells in blood and bone marrow from this patient and from the blast cells found in other instances of acute lymphoblastic leukaemia.

ISSN:0001-5792    

DOI:10.1159/000207860

出版商:S. Karger AG    

年代:1977

数据来源: Karger