scholarly journals Sideroblastic anemia

2016 ◽  
Vol 6 (11) ◽  
pp. 959-961
Author(s):  
P Bhandari ◽  
R Hamal ◽  
A Shrestha
Keyword(s):  
Iron Overload ◽  
Nursing Student ◽  
Young Female ◽  
High Serum ◽  
Shortness Of Breath ◽  
Sideroblastic Anemia ◽  
Ringed Sideroblasts ◽  
Heterogenous Group ◽  
Bone Marrow Study ◽  
One Year

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.

Idiopathic subglottic stenosis in a young female patient

2021 ◽  
Vol 14 (5) ◽  
pp. e241525
Author(s):  
Benjamin Pomerantz ◽  
Michael Pomerantz ◽  
Arkadiy Finn
Keyword(s):  
Balloon Dilatation ◽  
Young Female ◽  
Rigid Bronchoscopy ◽  
Pulmonary Function Testing ◽  
Subglottic Stenosis ◽  
Productive Cough ◽  
Shortness Of Breath ◽  
History Of ◽  
One Year ◽  
Function Testing

A previously healthy 30-year-old woman presented with 3 years of progressive shortness of breath and audible wheezing. One year prior to presentation, she developed a chronic non-productive cough. Pulmonary function testing revealed flattened inspiratory and expiratory peaks, characteristic of an extrathoracic fixed tracheal obstruction. Bronchoscopy confirmed subglottic stenosis (SGS). She had no history of intubation, tracheostomy or evidence of a systemic inflammatory illness. She was diagnosed with idiopathic SGS and referred for rigid bronchoscopy with balloon dilatation resulting in improvement in her symptoms.

scholarly journals Pharmacological and clinical evaluation of deferasirox formulations for treatment tailoring

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Andrea Piolatto ◽  
Paola Berchialla ◽  
Sarah Allegra ◽  
Silvia De Francia ◽  
Giovanni Battista Ferrero ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Renal Impairment ◽  
Observational Study ◽  
Iron Overload ◽  
Iron Loading ◽  
Comprehensive Comparison ◽  
Dispersible Tablets ◽  
One Year ◽  
Safety Features

AbstractDeferasirox (DFX) is the newest among three different chelators available to treat iron overload in iron-loading anaemias, firstly released as Dispersible Tablets (DT) and more recently replaced by Film-Coated Tablets (FCT). In this retrospective observational study, pharmacokinetics, pharmacodynamics, and safety features of DFX treatment were analyzed in 74 patients that took both formulations subsequently under clinical practice conditions. Bioavailability of DFX FCT compared to DT resulted higher than expected [Cmax: 99.5 (FCT) and 69.7 (DT) μMol/L; AUC: 1278 (FCT) and 846 (DT), P < 0.0001]. DFX FCT was also superior in scalability among doses. After one year of treatment for each formulation, no differences were observed between the treatments in the overall iron overload levels; however, DFX FCT but not DT showed a significant dose–response correlation [Spearman r (dose-serum ferritin variation): − 0.54, P < 0.0001]. Despite being administered at different dosages, the long-term safety profile was not different between formulations: a significant increase in renal impairment risk was observed for both treatments and it was reversible under strict monitoring (P < 0.002). Altogether, these data constitute a comprehensive comparison of DFX formulations in thalassaemia and other iron-loading anaemias, confirming the effectiveness and safety characteristics of DFX and its applicability for treatment tailoring.

Late-onset X-linked sideroblastic anemia following hemodialysis

Blood ◽  
2003 ◽  
Vol 101 (11) ◽  
pp. 4623-4624 ◽  
Author(s):  
Kazumichi Furuyama ◽  
Hideo Harigae ◽  
Chiharu Kinoshita ◽  
Toshihiko Shimada ◽  
Kazuko Miyaoka ◽  
...  
Keyword(s):  
Biosynthetic Pathway ◽  
Late Onset ◽  
The Elderly ◽  
Nutritional Deficiencies ◽  
Maintenance Hemodialysis ◽  
Sideroblastic Anemia ◽  
Ringed Sideroblasts ◽  
Aminolevulinate Synthase ◽  
Deficient Activity

Abstract X-linked sideroblastic anemia (XLSA) is due to deficient activity of erythroid-specific 5-aminolevulinate synthase (ALAS2). We report here a patient who developed sideroblastic anemia at the age of 81 years while undergoing hemodialysis. The diagnosis of sideroblastic anemia was established by the presence of ringed sideroblasts in the bone marrow, and treatment with oral pyridoxine completely eliminated the ringed sideroblasts. We identified a novel point mutation in the fifth exon of this patient's ALAS2 gene, which resulted in an amino acid change at residue 159 from aspartic acid to asparagine (Asp159Asn). In vitro analyses of recombinant Asp159Asn ALAS2 revealed that this mutation accounted for the pyridoxine-responsiveness of this disease. The very late onset in this case of XLSA emphasizes that nutritional deficiencies caused either by dietary irregularities in the elderly or, as in this case, by maintenance hemodialysis therapy, may uncover occult inherited enzymatic deficiencies in the heme biosynthetic pathway.

Assessment of Iron Overload in a Cohort of Sri Lankan Patients with Transfusion Dependent Beta Thalassaemia and its Correlation with Pathogenic Variants in HBB, HFE, SLC40A1, and TFR2 Genes

2021 ◽  
Author(s):  
Ruwangi Dissanayake ◽  
Nayana Samarasinghe ◽  
Samantha Waidyanatha ◽  
Sajeewani Pathirana ◽  
Vajira HW Dissanayake ◽  
...  
Keyword(s):  
Iron Overload ◽  
Serum Ferritin ◽  
Sri Lankan ◽  
Pathogenic Variants ◽  
Increased Risk ◽  
The Mean ◽  
One Year ◽  
Next Generation Sequencing Ngs ◽  
T2 Mri ◽  
Generation Sequencing

Abstract Background. Iron overload (IO) is a complication in transfusion dependent beta thalassaemmia (TDT). Pathogenic variants in genes involving iron metabolism may confer increased risk of IO. The objective of this study was to determine the magnitude of the cardiac and hepatic IO and determine whether pathogenic variants in HFE, SLC40A1 and TFR2 genes increase the risk of IO in a cohort of TDT patients in Sri Lanka.Materials and Methods. Fifty-seven (57) patients with TDT were recruited for this study. Serum ferritin was done once in 3 months for one year in all. Those who were ≥ 8 years of age underwent T2* MRI of the liver and heart. Fifty-two (52) patients underwent next generation sequencing (NGS) to identify pathogenic variants in HBB, HFE, SLC40A1 and TFR2 genes.Results. The mean age (SD) of this cohort was 9.5 (±4.6) years. It comprised of 30 (52.6%) boys and 27 (47.4%) girls. The mean serum ferritin was 3405 (±2670.5) ng/dl. Hepatic IO was seen in 38 (95%) patients and cardiac IO was seen in 17 (42.5%) patients. All patients with cardiac IO were asymptomatic and had normal echocardiogrammes. There was no statistically significant correlation between serum ferritin and hepatic or cardiac IO.32 (61.5%), 18 (34.6%), 2 (3.8%) of patients were homozygotes, compound heterozygotes and heterozygotes for pathogenic variants in the HBB gene. 9 (17.3%) and 3 (5.8%) patients were heterozygotes for pathogenic variants of HFE and SLC40A1 genes respectively. There were no pathogenic variants for the TfR2 gene. The heterozygotes of the pathogenic variants of the HFE and SLC40A1 genes were not at increased risk of IO.Conclusions. Cardiac T2* MRI helps to detect cardiac IO prior to the onset of symptoms when the echocardiogramme is normal. It is important to perform hepatic and cardiac MRI T2* to detect IO in patients with TDT.

Iron Overload and Sideroblastic Anemia

2015 ◽  
pp. 152-152
Author(s):  
Sanjeev Sharma ◽  
Pawan Singh
Keyword(s):  
Iron Overload ◽  
Sideroblastic Anemia

scholarly journals Low Serum Melatonin Levels Prior to Liver Transplantation in Patients with Hepatocellular Carcinoma are Associated with Lower Survival after Liver Transplantation

2019 ◽  
Vol 20 (7) ◽  
pp. 1696
Author(s):  
Leonardo Lorente ◽  
Sergio Rodriguez ◽  
Pablo Sanz ◽  
Pedro Abreu-González ◽  
Agustín González-Rivero ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Liver Transplantation ◽  
Antioxidant Capacity ◽  
Total Antioxidant Capacity ◽  
Serum Levels ◽  
High Serum ◽  
Published Data ◽  
Lower Serum ◽  
Total Antioxidant ◽  
One Year

Melatonin administration has been associated with different benefits in animals and patients suffering from liver diseases. However, there is no published data about circulating melatonin levels in patients with hepatocellular carcinoma (HCC) who underwent liver transplantation (LT). Thus, the objective of this observational and retrospective study was to determine whether patients with HCC with lower serum melatonin levels prior to LT have a higher risk of one-year mortality after LT. We measured serum levels of melatonin, malondialdehyde (to assess lipid peroxidation), and total antioxidant capacity (to assess antioxidant state) before LT. One-year surviving LT patients (n = 129) showed higher serum levels of melatonin (p = 0.001) and total antioxidant capacity (p = 0.001) and lower serum levels of malondialheyde (p = 0.01) than non-surviving LT patients (n = 16). Logistic regression analysis showed that high serum melatonin levels prior to LT were associated with lower one-year LT mortality (odds ratio = 0.525; 95% confidence interval (CI) = 0.331–0.834; p = 0.006). We found an association between serum levels of melatonin with serum levels of malondialheyde (rho = −0.22; p = 0.01) and total antioxidant capacity (rho = 0.21; p = 0.01). Thus, the novel findings of our study were the association between high serum melatonin levels prior to LT and survival at first year after LT and the association between serum levels of melatonin with malondialheyde and total antioxidant capacity.

Sideroblastic Anemia: Death from Iron Overload

1991 ◽  
Vol 26 (sup3) ◽  
pp. 55-56 ◽  
Author(s):  
Sylvia S. Bottomley
Keyword(s):  
Iron Overload ◽  
Sideroblastic Anemia

scholarly journals Dysmetabolic Hyperferritinemia: All Iron Overload Is Not Hemochromatosis

2015 ◽  
Vol 9 (1) ◽  
pp. 7-14 ◽  
Author(s):  
Jasbir Makker ◽  
Ahmad Hanif ◽  
Bharat Bajantri ◽  
Sridhar Chilimuri
Keyword(s):  
Iron Overload ◽  
Autosomal Recessive ◽  
Binding Capacity ◽  
Transferrin Saturation ◽  
Autosomal Recessive Disorder ◽  
Organ Damage ◽  
High Serum ◽  
Hemochromatosis Gene ◽  
Secondary Iron Overload ◽  
Iron Binding Capacity

Disturbances in iron metabolism can be genetic or acquired and accordingly manifest as primary or secondary iron overload state. Organ damage may result from iron overload and manifest clinically as cirrhosis, diabetes mellitus, arthritis, endocrine abnormalities and cardiomyopathy. Hemochromatosis inherited as an autosomal recessive disorder is the most common genetic iron overload disorder. Expert societies recommend screening of asymptomatic and symptomatic individuals with hemochromatosis by obtaining transferrin saturation (calculated as serum iron/total iron binding capacity × 100). Further testing for the hemochromatosis gene is recommended if transferrin saturation is >45% with or without hyperferritinemia. However, management of individuals with low or normal transferrin saturation is not clear. In patients with features of iron overload and high serum ferritin levels, low or normal transferrin saturation should alert the physician to other - primary as well as secondary - causes of iron overload besides hemochromatosis. We present here a possible approach to patients with hyperferritinemia but normal transferrin saturation.

Thalidomide-Associated Thrombocytopenia

2005 ◽  
Vol 39 (11) ◽  
pp. 1936-1939 ◽  
Author(s):  
Michiel Duyvendak ◽  
Mark Naunton ◽  
Bert J Kingma ◽  
Jacobus RBJ Brouwers
Keyword(s):  
Multiple Myeloma ◽  
Laboratory Testing ◽  
Hematologic Toxicity ◽  
Antineoplastic Drugs ◽  
Clinical Use ◽  
Adverse Consequence ◽  
Shortness Of Breath ◽  
Probability Scale ◽  
Case Summary ◽  
One Year

OBJECTIVE To report thrombocytopenia in a patient prescribed thalidomide for multiple myeloma (MM). CASE SUMMARY A 70-year-old woman was diagnosed in 2003 with MM. At diagnosis, melphalan 0.25 mg/kg/day and prednisolone 2 mg/kg/day were started; however, the patient became refractory to therapy. Melphalan and prednisolone were discontinued, and monotherapy with dexamethasone 40 mg for 12 days per month was started. The patient's hematologic condition deteriorated again after about one year; dexamethasone was discontinued, and treatment with oral thalidomide 200 mg/day was initiated. About 2 weeks after thalidomide administration, the woman developed disabling adverse effects (flu-like symptoms, swollen fingers, rash and hematoma on her legs, shortness of breath, dry mouth, multiple petechiae). Laboratory testing showed neutropenia (neutrophils 0.4 × 109/L) and thrombocytopenia (platelets 58 × 109/L). Thalidomide was promptly discontinued; within 3 weeks, the laboratory values returned to pretreatment levels (1.3 × 109/L and 267 × 109/L, respectively) and her symptoms disappeared. DISCUSSION Thrombocytopenia is a rarely reported hematologic adverse consequence of thalidomide therapy. A recent report identified 5 patients who developed thrombocytopenia while undergoing monotherapy with thalidomide for MM. According to the Naranjo probability scale, thalidomide was classified as the probable cause of thrombocytopenia in our patient. CONCLUSIONS Unlike other antineoplastic drugs, thalidomide is rarely reported to cause severe hematologic toxicity. We present this case to increase clinicians’ awareness for the potential of thalidomide to adversely affect platelet counts, particularly because its effectiveness in MM will likely result in expansion of its clinical use.

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