Cases reported "Anemia, Megaloblastic"

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1/12. chloramphenicol-a possible role in the treatment of leukaemia?

    The effect of chloramphenicol in short term in-vitro bone marrow cultures was studied. There was a striking reduction in the incorporation of tritiated thymidine into dna in bone marrow cultures with abnormal proliferative properties as compared with normal tissue. A 50% reduction in dna thymidine incorporation in leukaemia marrow was also obtained with in-vitro chloramphenicol concentrations which in contrast had little or no effect in normal tissue. These in-vitro levels of the antibiotic can be readily achieved in vivo. An in-vivo study confirmed the ability of chloramphenicol to reduce the white cell and blast count in a patient with chronic myeloid leukaemia in blastic transformation.
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2/12. Dietary folate deficiency with normal red cell folate and circulating blasts.

    This report describes a 26 year old woman, of Pakistani origin, who presented five months postpartum with severe megaloblastic anaemia as a result of nutritional folate deficiency. This case was unusual in that a small number of myeloblasts were present in the peripheral blood at presentation, and this circulating population temporarily increased in size when folate replacement was begun. We also highlight the need to recognise the non-linear relation between haematocrit and red blood cell folate concentration when the haematocrit is very low (< 0.15) and emphasise the importance of the clinical history.
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ranking = 51.2656
keywords = blood cell
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3/12. Restoration of abnormally high CD4/CD8 ratio and low natural killer cell activity by vitamin B12 therapy in a patient with post-gastrectomy megaloblastic anemia.

    A patient with post-gastrectomy megaloblastic anemia is described. Initially, the CD4/CD8 ratio of blood cells was abnormally high and the level of natural killer cell activity was markedly low. These abnormalities were, however, restored by vitamin B12 treatment. Taken together with our prior report on a patient with pernicious anemia in whom the decreased level of CD8-positive blood cells was corrected by vitamin B12 therapy, it may be considered that the reversible CD4/CD8 imbalance of blood cells noted in some cases of pernicious anemia is not pathognomonic for the disease but secondary to vitamin B12 deficiency.
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ranking = 153.7968
keywords = blood cell
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4/12. Bilateral retinal hemorrhages from megaloblastic anemia: case report and review of literature.

    A 33-year-old woman who was a chronic alcohol abuser and had bilateral visual loss was found to have megaloblastic anemia with thrombocytopenia. Both fundi showed retinal venular dilatation and tortuosity, superficial and deep intraretinal hemorrhages, white-centered retinal hemorrhages, and optic disc edema. Her megaloblastic anemia was caused by vitamin B12 and folate deficiencies, resulting from an inadequate diet and alcohol abuse. The retinal changes were believed to be the result of the severe anemia and thrombocytopenia. Both the megaloblastic anemia and retinal changes resolved promptly after she received vitamin B12 and folate supplements. This case shows that megaloblastic anemia should be suspected as a cause of bilateral retinal hemorrhages.
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5/12. Masked deficit of vitamin B12 in the patient with heterozygous beta-thalassemia and spastic paraparesis.

    The spinal cord, brain, optic nerves and peripheral nerves may be affected by vitamin B12 (cobalamin) deficiency. Deficiency of vitamin B12 also causes megaloblastic anaemia, meaning that the red blood cells are usually larger than normal. In this paper we report a 16-year old girl who was referred to us for the evaluation of mild paraparesis and paresthesias marked by tingling "pins and needles" feelings and general weakness. The patient, her parents and sisters were on a strict vegan diet, which made us believe that vitamin B12 deficiency may be the possible cause of the neurologic clinical manifestations. The serum level of vitamin B12 was low, but there was no macrocytosis in the routine blood examination. The electrophoresis of haemoglobin was pathologic, there was 3.7% of HbA2 and 11.6% of HbF (heterozygous form of beta-thalassaemia). When megaloblastic anaemia occurs in combination with a condition that gives rise to microcytic anaemia, many megaloblastic features may be masked. Instead of being macrocytic, the anaemia could be normocytic or even microcytic. Vitamin B12 deficiency is a diagnosis that must not be overlooked. This case report turns the light on the fact that increased MCV is a hallmark in vitamin B12 deficiency, but it is not an obligatory sign.
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ranking = 51.2656
keywords = blood cell
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6/12. Studies on thiamine metabolism in thiamine-responsive megaloblastic anaemia.

    We have investigated thiamine metabolism and transport in the erythrocytes of two patients from unrelated families with thiamine responsive megaloblastic anaemia associated with diabetes mellitus and sensorineural deafness. Both patients had low concentrations of thiamine compounds in plasma and red blood cells. When erythrocytes were incubated with thiazole-[2-14C]-thiamine or [35S]-thiamine in vitro, the concentration of label within the cells was markedly reduced compared with controls. In addition, thiamine pyrophosphokinase activity was deficient in haemolysates prepared from the patients. Some relatives of the patients showed abnormal parameters of thiamine status and transport. In both patients treatment with a lipophilic compound corrected the haematological abnormalities and diabetes and in one patient has so far prevented the progression of deafness. We propose that the disorder is caused by an inherited defect of thiamine transport, possibly related to deficient pyrophosphokinase activity, leading to intracellular depletion of active thiamine metabolite derivatives.
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ranking = 51.2656
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7/12. Severe megaloblastic anaemia associated with abnormal azathioprine metabolism.

    Severe anaemia is a rare, unexplained, side effect of azathioprine therapy. We report here such a case associated with a previously unreported abnormality in azathioprine metabolism. A 57 year old man on azathioprine therapy, for a presumed collagen vascular disease, developed severe megaloblastic anaemia. This resolved on cessation of azathioprine treatment. A very high concentration of an azathioprine metabolite, 6-thioguanine nucleotide, was found in the patient's red blood cells and this was confirmed by subsequent rechallenge with a single dose of 50 mg azathioprine.
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ranking = 51.2656
keywords = blood cell
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8/12. emperipolesis by megakaryocytes in patients with non-Hodgkin's lymphoma and megaloblastic anemia.

    emperipolesis, i.e. engulfment of blood cells by megakaryocytes, was observed in one patient with non-Hodgkin's lymphoma and in one patient with megaloblastic anemia. In the first patient, the engulfed cells were lymphocytes, whereas in the second one they were granulocytes. Transmission (TEM) and scanning electron microscopic (SEM) examinations showed that blood cells tend to make a rosette-like formation around the megakaryocytes engaged in this phenomenon.
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ranking = 102.5312
keywords = blood cell
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9/12. Nutritional vitamin B12 deficiency in a breastfed infant following maternal gastric bypass.

    Breastfed infants of women who have had gastric or intestinal bypass procedures may develop nutritional deficiencies. We describe a 10-month-old exclusively breastfed white male infant who presented with vomiting, failure to thrive, and megaloblastic anemia. He was found to have vitamin B12 deficiency. His mother had undergone a gastric bypass procedure for morbid obesity 2 years prior to her pregnancy with this child. She had subclinical vitamin B12 deficiency, with an abnormal schilling test that corrected with the addition of intrinsic factor. Therefore, we believe that the mother's gastric bypass had caused a decrease in available intrinsic factor, resulting in subclinical vitamin B12 deficiency and decreased breast milk B12. Although she was asymptomatic, her breastfed infant developed symptomatic B12 deficiency. This is the first reported case of a maternal gastric bypass resulting in vitamin B12 deficiency in an infant. These mothers should receive vitamin supplements, including vitamin B12, during and after pregnancy, and may require parenterally administered vitamin B12.
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10/12. Imerslund-Grasbeck syndrome coexisting with beta-thalassemia trait.

    A 9-year-old female patient with Imerslund-Grasbeck syndrome and heterozygosity for beta-thalassemia is presented. At admission the hemoglobin (Hb) was 7.2 g/dL; reticulocytes, 0.2%; red blood cell count (RBC), 2.3 x 10(12)/L; mean corpuscular volume (MCV), 80 fL; hemoglobin a2 (HbA2), 4.3%; fetal hemoglobin intervening sequence (IVS) (HbF), 1.9%. In the bone marrow aspiration smear, megaloblastic changes were observed; the schilling test was compatible with malabsorption. dna analysis revealed the presence of heterozygosity for the IVS-I-110 type of beta-thalassemia mutation. Five months after treatment with vitamin B12, Hb was found to be 12.8 g/dL; RBC, 5 x 10(12)/L; MCV, 63 fL.
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ranking = 51.2656
keywords = blood cell
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