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Refractory Anemia


  • The purpose of this study is to present the evolution of such a case, with difficulties in establishing not only the correct diagnosis, but also the appropriate therapeutic approach.[ncbi.nlm.nih.gov]
  • ., refractory anemia with ring sideroblasts [RARS]) and a rapidly fatal clinical course is presented. A cytogenetic analysis showed an isochromosome 17q as a sole abnormality in all metaphases.[ncbi.nlm.nih.gov]
  • The number of megakaryocytes is also diminished and there are prominent micro-megakaryocytes present throughout. Iron stores are present and no ringed sideroblasts are seen. The bone marrow is 90% cellular.[gpec.ubc.ca]
  • We report the case of a 65-year-old woman who presented a trisomy 21 as the sole karyotypic anomaly for a refractory anemia with ring sideroblasts. The nature of such an anomaly is discussed in regard to pathogenesis and prognosis.[ncbi.nlm.nih.gov]
  • We present a case of refractory anemia (MDS-RA) with the uncommon features of marked elliptocytosis and schistocytosis in the peripheral blood and isochromosome 14q.[ncbi.nlm.nih.gov]
  • * Poor appetite * Irritability * Weakness * Death Causes - Refractory anemia Not supplied.[checkorphan.org]
  • If you have symptoms, they may include Shortness of breath Weakness or feeling tired Skin that is paler than usual Easy bruising or bleeding Pinpoint spots under the skin caused by bleeding Fever or frequent infections Myelodysplastic syndromes are rare[icdlist.com]
  • ADDITIONAL LABORATORY INVESTIGATIONS: Routine pretransfusion serological testing did not reveal the anti-A1 antibody (Table 1); however, when the serum:cell ratio of the pre-transfusion specimen was increased, a weak and 1 reaction was seen at the immediate[path.upmc.edu]
  • Clinical presentation  64 year-old male  Presented with new-onset decreased exercise tolerance of two months duration  Also complaint of fatigue, weakness & occasional dizziness  Past Medical History:  Hypertension  Negative previous hematologic[slideshare.net]
  • Case Report A 74-year-old African-American man was admitted to our institution with a three month history of progressive generalized weakness accompanied by a 20lb weight loss and progressive exertional dyspnea.[ijcasereportsandimages.com]
Increased Energy
  • An increased energy level with improved performance continues. Patient was followed up most recently in March 2014 and remains transfusion independent.[omicsonline.org]
Exertional Dyspnea
  • Case Report A 74-year-old African-American man was admitted to our institution with a three month history of progressive generalized weakness accompanied by a 20lb weight loss and progressive exertional dyspnea.[ijcasereportsandimages.com]
Systolic Murmur
  • The physical exam was normal except for a soft systolic murmur at left lower sternal border. A midline thoracic scar was noted. There was no history of alcohol or toxic exposure. Initial blood work revealed an Hgb of 8.2 g/dl with an MCV of 110.[omicsonline.org]


  • Scope of presentation  Clinical presentation  Diagnostic workup  Management approach  Choosing agent for treatment 3.[slideshare.net]
  • Workup may include: CBC with differential, liver function tests, renal function tests, blood and urine arsenic levels. Arsenic levels in tissue, hair and nails can be performed, but may be normal if only distant exposure.[wiydx.com]
  • Initial laboratory workup revealed an Hgb of 11.7 g/dl and MCV 102. The creatinine clearance was 40 milliliter per minute, serum ferritin 444 μg/L and percent transferrin saturation of 41.[omicsonline.org]
Karyotype Abnormal
  • While the side effects of CyA were mostly mild and transient, one patient demonstrated karyotypic abnormality following CyA therapy and accelerated to refractory anemia with an excess of blasts.[ncbi.nlm.nih.gov]
  • The prognostic significance of karyotypic abnormalities in refractory anemia are reviewed.[ncbi.nlm.nih.gov]
  • By use of the IPSS, patients may be successfully stratified on the basis of the percentage of bone marrow myeloblasts, karyotype abnormality, and cytopenia. [14] The IPSS separates patients into 4 risk groups (low, intermediate-1, intermediate-2, and[emedicine.medscape.com]
  • However, including the 2 patients with normal karyotype who subsequently acquired a karyotypic abnormality in the respective karyotype group, survival in patients with persistently normal karyotype was significantly better than it was in patients with[bloodjournal.org]


  • A median treatment duration of 9 (range 1 to 28) months was required to achieve multilineage recovery. The responders showed an ability to maintain the multilineage recovery for 9 to 47 months and to tolerate long-term treatment.[ncbi.nlm.nih.gov]
  • Therapeutic options should be personalized to each case in part because there is not yet a standardized treatment of these patients.[ncbi.nlm.nih.gov]
  • We report the results of lenalidomide treatment in these patients and show that lenalidomide has clinical activity in this rare disorder.[ncbi.nlm.nih.gov]
  • Treatment with recombinant human GM-CSF and very-low-dose cytosine arabinoside, was started but was not effective.[ncbi.nlm.nih.gov]
  • The spontaneous remission observed after the withdrawal of CsA treatment suggests that immunosuppressive therapy can be a pathogenic factor in a subset of EBV-negative lymphomas.[ncbi.nlm.nih.gov]


  • The nature of such an anomaly is discussed in regard to pathogenesis and prognosis.[ncbi.nlm.nih.gov]
  • The analysis of the clinical outcome of this case and of others of myelodysplastic (MDS)/myeloproliferative syndromes with trisomy 14 as the sole abnormality suggests that it does not confer an unfavorable prognosis.[ncbi.nlm.nih.gov]
  • This case supports previous observations of poor prognosis associated with leukemia cutis. LC associated with MDS is reviewed including the role of monocytes.[ncbi.nlm.nih.gov]
  • This case might interest pathologists, but especially clinicians, for at least two reasons: the rarity of this disease and the lack of data on prognosis of these patients, probably because of relatively recent established diagnosis criteria and existence[ncbi.nlm.nih.gov]
  • The prognosis of MDS may be poorly influenced by association with RP.[ncbi.nlm.nih.gov]


  • Four years ago, bone marrow aspiration was performed for anemia etiology with the prediagnosis of myelodysplasic syndrome but it did not reveal any pathological findings.[go.galegroup.com]
  • […] increased blasts or Auer rods 2 categories based on prognosis RAEB-1 2-4% blasts in peripheral blood or 5-9% blasts in bone marrow RAEB-2 5-19% blasts in peripheral blood or 10-19% blasts in bone marrow Auer rods, if present, advance MDS case to RAEB-2 ETIOLOGY[basicmedicalkey.com]
  • (Etiology) Refractory Anemia with Excess Blasts is caused by genetic mutations.[dovemed.com]
  • Tsiara et. al. [1] proposed that malignant transformation of a single precursor cell may have the capability to differentiate into both lymphoid and myeloid neoplasms as the possible etiology, a theory that Mufti et al found unlikely.[ijcasereportsandimages.com]
  • Two etiologic categories of MDS: 1.)[slideplayer.com]


  • Epidemiology and Clinical Features Epidemiology The epidemiologic features of refractory anemia with ring sideroblasts (RARS) are similar to those of most other types of myelodysplastic syndrome (MDS).[emedicine.medscape.com]
  • Infections in Compromised Hosts 593 Clinical Considerations 601 Approach to Patients With Systemic Infection 612 Epidemiology and Infection Control 621 PULIMONARY AND CRITICAL CARE 629 Respiratory Therapy Techniques and Mechanical 636 Management of Acute[books.google.com]
  • Epidemiology There are few data on the epidemiology of RA, which may account for 30-40% of all MDS cases. MDS is predominantly diagnosed in the elderly population.[atlasgeneticsoncology.org]
  • […] blasts in bone marrow RAEB-2 5-19% blasts in peripheral blood or 10-19% blasts in bone marrow Auer rods, if present, advance MDS case to RAEB-2 ETIOLOGY/PATHOGENESIS Hematopoietic Stem Cell Disorder Clonal hematopoietic stem cell disorder CLINICAL ISSUES Epidemiology[basicmedicalkey.com]
  • Age related incidence and other epidemiologic aspects of myelodysplastic syndromes. Br J Haematol 1992;82:358-367. [ CrossRef ] [ Pubmed ] Jemal A, Siegel R, Ward E, Murray T, Xu J, Thun MJ. Cancer statistics.[ijcasereportsandimages.com]
Sex distribution
Age distribution


  • Preisler , Michael Churchill , Abdullah Mahmood Ali , Azra Raza and Siddhartha Mukherjee DOI: 10.1158/1538-7445.AM2015-2425 Published August 2015 Proceedings: AACR 106th Annual Meeting 2015; April 18-22, 2015; Philadelphia, PA Abstract Background: The pathophysiology[cancerres.aacrjournals.org]
  • Although the pathophysiologic mechanisms underlying RARS are not entirely elucidated, there is compelling evidence of mitochondrial dysfunction in early stages of erythroid maturation, leading to abnormal mitochondrial iron deposition and ineffective[emedicine.medscape.com]
  • The precise pathophysiologic mechanism of ACD is unclear. The anemia is related more to decreased red blood cell production than to increased destruction.[aafp.org]
  • Several pathophysiological hypotheses may be raised: (i) toxic effects of one of the study drugs (olaparib or durvalumab), (ii) bone marrow invasion by tumour or (iii) parvovirus B19 infection.[gustaveroussy.fr]
  • Differential Diagnosis Several common diagnostic considerations given these findings including: Causes of bone marrow failure(idiopathic or drug-induced aplasia) Hypersplenism Vitamin B12 or folate deficiency (PNH)– can have similar BM findings and MDS. 53 54 Pathophysiology[slideplayer.com]


  • However, it was limited in terms of preventing leukemic transformation. Allo-SCT would seem to be the only available treatment that can alter disease progression.[ncbi.nlm.nih.gov]
  • Prevention - Refractory anemia Not supplied. Diagnosis - Refractory anemia Not supplied. Prognosis - Refractory anemia Median survival of RA may fall in the 27-50 month range.[checkorphan.org]
  • Prevention Although there is a big genetic predisposition to MDS, some risk factors can be avoided to help prevent the disease. These include: Avoiding too much radiation exposure.[syndromespedia.com]
  • The a priori hypothesis was that fluorouracil would be effective in preventing these cancers.[jamanetwork.com]

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