An Extra C Chromosome and Various Metabolic Abnormalities in the Bone Marrow from a Patient with Refractory Sideroblastic Anaemia

Hellström, Kjell; Hagenfeldt, Lars; Larsson, Agne; Lindsten, J.; Sundelin, P.; Tiepolo, L.

doi:10.1111/j.1600-0609.1971.tb00878.x

Cited by 46 publications

(5 citation statements)

References 30 publications

(16 reference statements)

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“…Similar symptoms have been described in other patients with C trisomy, e.g. Winkelstein et al (1966) and Hellstrom et al (1971). We are raising the question as to whether ineffective erythropoiesis might be related to chromosomal abnormality.…”

Section: Discussionsupporting

confidence: 73%

“…The fact that the extra chromosome was a number 8 in the two cases under discussion does not, of course, imply that all the other cases were also 8-trisomies. Hellstrom et al (1971), however, did briefly mention that they had identified an extra C chromosome as a number 8 in a patient with refractory sideroblastic anaemia. If their case is considered to belong to the same group of malignant haematological diseases as the other patients referred to in this study, then 8-trisomy has been identified in 3 out of perhaps 50 patients.…”

Section: Discussionmentioning

confidence: 99%

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8‐trisomy in the bone marrow. Report of two cases

1972

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The extra C chromosome in bone marrow mitoses from two patients with haematological disorders was identified as a number 8 by modified Giemsa staining followed by quinacrine mustard fluorescence. One of the patients had intermittent severe pancytopenia and the other mild granulocytopenia and thrombocytopenia. In spite of their differences in symptomatology, our attention was drawn to certain similarities, the most noticeable of which was ineffective erythropoiesis. From these results and a case report published by others it was concluded that all 3 patients with C‐trisomy of the bone marrow in whom the extra chromosome had been identified, had 8‐trisomy. Hence 8‐trisomy may account for a significant proportion of all bone marrow C‐tri‐somies, as is the case in congenital C‐trisomy. While 8‐trisomy is not necessarily a primary event in the aetiology of the malignant condition, it is possible that it gives the cells an advantage over other cells, and that this allows the trisomic cells to selectively populate the bone marrow. It may also lead to certain similarities in the clinical pictures, such as pronounced ineffectiveness of erythropoiesis.

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Section: Discussionsupporting

confidence: 73%

Section: Discussionmentioning

confidence: 99%

8‐trisomy in the bone marrow. Report of two cases

1972

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“…The combination of pancytopenia, preleukemia and acute leukemia was shown to be associated with chromosomal abnormalities such as trisomy C (Kaur et al 1972). We have found in the literature 14 reported cases of diseases of the hematopoietic system associated with acquired trisomy 8; two patients suffered from sideroblastic anemia (Hellstrom et al 1971, Jonasson et al 1974, two patients showed pancytopenia (de la Chapelle 1972) and another developed acute myeloid leukemia (Jonasson et al 1974). Hsu et al (1974) reviewed an additional five cases with chronic myeloid leukemia and four cases with polycythemia Vera.…”

Section: Discussionmentioning

confidence: 97%

Aplastic anemia followed by leukemia in congenital trisomy 8 mosaicism:Ultrastructural studies of polymorphonuclear cells in peripheral blood

et al. 1976

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The case of a 40-year-old patient with congenital trisomy 8 and sex chromosome mosaicism is discussed. The main clinical features were: mental retardation, thick and darkly pigmented skin, prominent forehead, convergent strabismus, high arched palate, flexion contractures of the extremities, and numerous skeletal abnormalities. The patient developed severe aplastic anemia followed by an interim period of preleukemia which developed into acute leukemia. Electron microscope examination of the white blood cells at the stage of the aplastic anemia showed ultrastructural abnormalities similar to those observed in other genetic disorders with a predisposition to leukemia, as well as in leukemia.Congenital trisomy 8 is a rare genetic disorder. To the best of our knowledge, only

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“…[45] Studies have been carried out from time to time to find out the cytogenetics of different types of anemias, and it has been found that not all but many of them are associated with chromosomal changes. There have been reports of aneuploidy[67] and loss of Y chromosome[8] in case of sideroblastic anemias; trisomies of 6 and 8 and loss of chromosome 7[9] in aplastic anemia. Association of reversible cytogenetic abnormalities with megaloblastic anemia have also been observed.…”

Section: Introductionmentioning

confidence: 99%

Clinical and cytogenetic analysis of human anemias from Jammu region of Jammu and Kashmir state

Upma

Kumar

Raina

et al. 2010

Asian J Transfus Sci

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Background:Anemias are the blood disorders characterized by reduction in the number of circulating red blood cells, the amount of hemoglobin, or the volume of packed red cells in blood. Chromosomal aberrations have often been reported from the bone marrow as well as cultured lymphocytes of the anemic patients.Aims:The aims of the study were to find out the commonest type of anemia occurring in the population of Jammu, India and to find out the chromosomal changes involved in the disorder.Material and Methods:Present study has been carried out on the bone marrow samples from 53 clinically diagnosed anemic patients. Cytogenetic study was carried out on slides prepared from these samples. Noncytogenetic factors like age, sex, religion, blood groups, family history of anemia, socioeconomic status, etc. have also been included in the study.Results:Megaloblastic anemia was found to be the commonest type of anemia. Centromere stretching, chromatid breaks, gaps, and elongation of chromosomes were recorded in patients with megaloblastic anemia and combined deficiency anemia. However, structural changes and numerical changes were totally absent.Conclusion:The commonest anemia among the people of Jammu region is megaloblastic anemia and its prevalence is increasing every year. Also, megaloblastic anemia is always associated with reversible cytogenetic changes.

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An Extra C Chromosome and Various Metabolic Abnormalities in the Bone Marrow from a Patient with Refractory Sideroblastic Anaemia

Cited by 46 publications

References 30 publications

8‐trisomy in the bone marrow. Report of two cases

8‐trisomy in the bone marrow. Report of two cases

Aplastic anemia followed by leukemia in congenital trisomy 8 mosaicism:Ultrastructural studies of polymorphonuclear cells in peripheral blood

Clinical and cytogenetic analysis of human anemias from Jammu region of Jammu and Kashmir state

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