Megaloblastic Anaemia

Sideroblastic anemias are a heterogenous group of disorders that have as a common feature with the presence of ringed sideroblasts in the marrow. We present a case of young female, nursing student who presented with increasing palpitation, fatigue and exertional shortness of breath for the last one year. She had a low hemoglobin and high serum iron. Anemia with iron overload prompted us to do bone marrow study and there were 19% ringed sideroblasts and iron overload fulfilling the diagnosis of sideroblastic anemia. We searched for secondary causes of ringed sideroblast but could not find any culprit. Her cytogenetics report was normal and genetic analysis was not done due to financial reason. Since the diagnosis 3 months back, patient is on pyridoxine, folic acid, deferasirox and still needs regular blood transfusion suggesting that she may be pyridoxine refractory and may develop iron overload.

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“…1 Sideroblastic anemia is diagnosed when 15 % or more of marrow erythroblasts are ringed sideroblasts. 2 …”

Section: Introductionmentioning

confidence: 99%

Sideroblastic anemia

Bhandari

Hamal²,

Shrestha³

2016

J Pathol Nep

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“…Macrocytes are either oval or round. Oval macrocytosis (Figure 2 -Slide B) is seen in megaloblastic anaemias, myelodysplasia and drugs such as hydroxyurea [31]. Round macrocytes are seen in liver disease and alcoholism [32].…”

Section: Anisocytosismentioning

confidence: 99%

Morphologic Evaluation of Anemia I

Ademola¹,

Abiola²

2016

Biol Med (Aligarh)

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Anaemia is a feature of many tropical diseases. Anaemia diagnosis therefore remains a crucial intervention among physicians in developing countries. A barrage of laboratory test (anaemic work-up) is usually deployed in differentiating its underlying cause. However, central to anaemia evaluation is the morphology of the red cells and other cell lines. Conventionally, initial laboratory tests include full blood count, reticulocyte count and peripheral blood film (PBF). PBF is often a clinical request, performed by skilled technologist and reported by haematologist/ haematomorphologist. Findings from PBF are reviewed and reported in the light of patient's clinical history and examination findings. This article therefore aims to promote PBF evaluation in anaemic patients, facilitate laboratory communication of morphologic findings among clinicians, particularly in developing nations where advanced investigations such as flow cytometry and molecular diagnosis may not be readily available, invariably improving patient care and treatment outcomes.

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Section: Introductionmentioning

confidence: 99%

“…Extended profile of investigations is necessary in patients with arterial or venous thrombosis which occur repeateadly, in unusual sites or at young ages, when family aggregation of thrombotic events is identified, as well as in women with recurrent idiopathic pregnancy loss. It must include a complete blood count and erythrocyte sedimentation rate, a blood film examination, prothrombin time (PT) and activated partial thromboplastin time (aPTT), factor V Leiden, antithrombin and fibrinogen levels, protein C and S, prothrombin gene mutations, homocysteinemia, methylenetetrahydrofolate reductase (MTHFR) gene mutations and antiphospholipid antibodies [3].Homocysteine has been recognised as a cardiovascular risk factor besides the traditional ones such as smoking, obesity, diabetes mellitus and arterial hypertension, in line with the observations made in patients with homocystinuria [4][5][6]. This is an inborn error of methionine metabolism caused by deficient activity of cysthationine β-synthase (CBS) and thereby impairment of the transsulphuration pathway leading to excessive accumulation of homocysteine [7,8].…”

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confidence: 99%

Simultaneous Tromboembolic Events in a Patient with Heterozygous MTHFR Mutation

2015

Int Arch Med

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Background: Hyperhomocysteinemia is a well recognised risk factor for arterial and venous thrombosis. The most common form results from methylenetetrahydrofolate reductase (MTHFR) gene mutations leading to decreased enzymatic activity. Case report:We present the case of a 34 year-old woman with a sudden onset of left hemiparesis and aphasia accompanied by retrosternal pain. She is diagnosed with acute posteroinferolateral myocardial infarction and stroke. Homocysteine level was determined and it was moderately elevated. The coronary angiogram revealed partially recanalised embolic occlusion of posterior left ventricular branch and posterior interventricular artery. A conservative treatment management is adopted. She remained haemodynamically stable, with complete resolution of neurological symptoms and evolution to subacute myocardial infarction. Conclusions:The particularity of our case is represented by symultaneous thromboembolic events causing myocardial infarction and ischemic stroke in a patient with a history of recurrent pregnancy loss, which was previously diagnosed with MTHFR gene mutation. Moderate hyperhomocysteinemia, also found in our patient, is recognised as an ethiopathogenic factor of thrombophilia. The right diagnosis and therapeutic approach could be the key to improved prognosis in this category of patients. MTHFR gene mutation causing hyperhomocysteinemia should be suspected in patients with thromboembolic events, especially when occuring repeatedly or at young ages. IntroductionThrombophilias are conditions associated with hypercoagulable status and increased risk of arterial and venous thrombosis, which represents a significant cause of mortality and morbidity worldwide [1]. The prothrombotic states may be inherited or acquired, but also due to genetic and environmental interactions [2]. Investigating for thrombophilia requires an initial evaluation of classical prothrombotic risk factors such as smoking, dyslipidemias, arterial hypertension or diabetes mellitus. Extended profile of investigations is necessary in patients with arterial or venous thrombosis which occur repeateadly, in unusual sites or at young ages, when family aggregation of thrombotic events is identified, as well as in women with recurrent idiopathic pregnancy loss. It must include a complete blood count and erythrocyte sedimentation rate, a blood film examination, prothrombin time (PT) and activated partial thromboplastin time (aPTT), factor V Leiden, antithrombin and fibrinogen levels, protein C and S, prothrombin gene mutations, homocysteinemia, methylenetetrahydrofolate reductase (MTHFR) gene mutations and antiphospholipid antibodies [3].Homocysteine has been recognised as a cardiovascular risk factor besides the traditional ones such as smoking, obesity, diabetes mellitus and arterial hypertension, in line with the observations made in patients with homocystinuria [4][5][6]. This is an inborn error of methionine metabolism caused by deficient activity of cysthationine β-synthase (CBS) and thereby impairmen...

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Megaloblastic Anaemia

Cited by 16 publications

References 12 publications

Sideroblastic anemia

Sideroblastic anemia

Morphologic Evaluation of Anemia I

Simultaneous Tromboembolic Events in a Patient with Heterozygous MTHFR Mutation

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