A Case of SAA with Secondary Hemochromatosis: Can Continuous Iron Chelation Reverse Both Bone Marrow and Multiple Organ Failures?.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 3728-3728
Author(s):  
Soo-Jeong Park ◽  
Chi-Wha Han
Keyword(s):  
Pleural Effusion ◽  
Blood Cell ◽  
Aplastic Anemia ◽  
Red Blood Cell ◽  
Clinical Course ◽  
Iron Chelation ◽  
Multiple Organ ◽  
Chest Radiographs ◽  
Gonadal Dysfunction ◽  
Organ Failures

Abstract A 24-year-old male patient with hemochromatosis due to multiple packed red blood cell transfusions, was referred to our emergeny center for a treatment of severe aplastic anemia and dyspnea. He was diagnosed with aplastic anemia at the age of 11 and had developed a transfusional hemochromatosis after 5 years of multiple blood transfusions. He had dilated cardiomyopathy with ejection fraction of 4 % requiring diuretics and digitalis, multiple endocrine dysfunctions (hypothyroidism, hypoparathyroidism with hypocalcemia, cataract, and intracranial calcifications, diabetes, and gonadal dysfunction), liver dysfunction, generalized bleeding, and skin pigmentation (Fig.1-left). A total volume of packed red blood cell transfusion before deferoxamine therapy was about 96,000 ml and the number of transfused units of platelet concentrates were innumerable. He had received regular iron chelation therapy (continous intravenous infusion of deferoxamine, 50 mg/kg/day for 5 days q 3–4 weeks) for 7 years after multiple organ failures. His cytopenias and organ dysfunctions (heart, liver and skin) began to recover progressively in 2002, after four years of deferoxamine therapy. He had had complete normal ranges of his peripheral blood cell counts, heart size, and liver function two years ago (Fig.1-right & Fig.2). He has not received any transfusions for the last four years. This finding suggests that continuous deferoxamine infusion may play a role in immune regulation in addition to iron chelation effect. Figure 1. Posteroanterior chest radiographs reveal a marked cardiomegaly with right pleural effusion before the treatment (left) and a normalized heart after the deferoxamine therapy (right). Figure 1. Posteroanterior chest radiographs reveal a marked cardiomegaly with right pleural effusion before the treatment (left) and a normalized heart after the deferoxamine therapy (right). Figure 2. Hemoglobin changes and clinical course. Figure 2. Hemoglobin changes and clinical course.

scholarly journals Durable Red Blood Cell Transfusion Independence in a Patient with an MDS/MPN Overlap Syndrome Following Discontinuation of Iron Chelation Therapy

2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
Harpreet Kochhar ◽  
Chantal S. Leger ◽  
Heather A. Leitch
Keyword(s):  
Blood Cell ◽  
Iron Overload ◽  
Red Blood Cell ◽  
Chelation Therapy ◽  
Iron Chelation ◽  
Red Blood Cell Transfusion ◽  
Favorable Effect ◽  
Iron Chelation Therapy ◽  
Transfusion Independence ◽  
Rbc Transfusion

Background. Hematologic improvement (HI) occurs in some patients with acquired anemias and transfusional iron overload receiving iron chelation therapy (ICT) but there is little information on transfusion status after stopping chelation.Case Report. A patient with low IPSS risk RARS-T evolved to myelofibrosis developed a regular red blood cell (RBC) transfusion requirement. There was no response to a six-month course of study medication or to erythropoietin for three months. At 27 months of transfusion dependence, she started deferasirox and within 6 weeks became RBC transfusion independent, with the hemoglobin normalizing by 10 weeks of chelation. After 12 months of chelation, deferasirox was stopped; she remains RBC transfusion independent with a normal hemoglobin 17 months later. We report the patient’s course in detail and review the literature on HI with chelation.Discussion. There are reports of transfusion independence with ICT, but that transfusion independence may be sustained long term after stopping chelation deserves emphasis. This observation suggests that reduction of iron overload may have a lasting favorable effect on bone marrow failure in at least some patients with acquired anemias.

Quality of Life and Economic Impact of Red Blood Cell (RBC) Transfusions on Patients with Myelodysplastic Syndromes (MDS).

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 4716-4716 ◽  
Author(s):  
S. Brechignac ◽  
E. Hellstrom-Lindberg ◽  
D. T. Bowen ◽  
T. M. DeWitte ◽  
M. Cazzola ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Blood Cell ◽  
Red Blood Cell ◽  
Chelation Therapy ◽  
Subcutaneous Administration ◽  
Iron Chelation ◽  
International Prognostic Scoring System ◽  
Blood Collection ◽  
Iron Chelation Therapy

Abstract Background: Supportive care with blood product transfusions is the primary management strategy for the majority of patients with MDS. Approximately 80% of MDS patients are anemic at the time of presentation and more than 40% require regular RBC transfusions at some stage of disease, while platelet transfusions are less often required. Methods: In an effort to systematically study quality of life and economic cost associated with transfusion dependency (especially RBC transfusions), The MDS Foundation has disseminated a practices and treatment survey to its Centers of Excellence and is also accumulating transfusion data. Retrospective and prospective data collected include hematologic parameters defining transfusion need; percentage (%) of MDS patients requiring transfusion; % of transfusion-dependent MDS patients by subtype and International Prognostic Scoring System (IPSS) risk group; per patient frequency of transfusions; % of patients requiring iron chelation therapy. Results: A total of 30 Centers have replied to the survey to date, and responses reveal that a substantial proportion of MDS patients receive multiple RBC transfusions with most of these patients needing chelation therapy with desferoxamine (generally subcutaneous administration, 4-times weekly): Table 1. In addition, detailed data are available from 4 European Centers that have provided transfusion records from randomly selected multiply-transfused MDS patients: 38 patients (median age: 73) received a median of 42 transfusions over the last 24 months (range: 11–207). The average per transfusion costs calculated from estimates provided by the 4 European centers is 436 euros or $ 526 ($1 US dollar = 0.83 euros), where the per transfusion cost includes 2 filtered red blood cell units, blood collection, administrative costs, and staff time, resulting in a median per patient cost over the last 24 months of 11,118 euros (range: 5668–21,800 euros). This does not include the cost of chelation therapy (300 euros/month for desferioxamine SC) and indirect costs (e.g., time spent at transfusion facility, travel time for patient to facility, travel and wait time for private caretaker or family member). Conclusion: Preliminary data analysis from the ongoing retrospective study suggests that the transfusion burden to MDS patients and to society, in terms of quality of life and cost, is much greater than generally appreciated. Updated data of this study will be presented. Table 1: RBC Transfusion-dependent MDS patients Mean % IPSS low risk 39 IPSS intermediate-1 risk 50 IPSS intermediate-2 risk 63 IPSS high risk 79 Iron chelation therapy 28

Neither Serum Ferritin Nor Number of Red Blood Cell Transfusions Affect Overall Survival in Refractory Anemia with Ringed Sideroblasts.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 2454-2454 ◽  
Author(s):  
Cheng E. Chee ◽  
David P. Steensma ◽  
Curtis A. Hanson ◽  
Ayalew Tefferi
Keyword(s):  
Overall Survival ◽  
Blood Cell ◽  
Iron Overload ◽  
Serum Ferritin ◽  
Red Blood Cell ◽  
Iron Chelation ◽  
Refractory Anemia ◽  
International Prognostic Scoring System ◽  
Ringed Sideroblasts

Abstract Background: Most experts agree that iron chelation therapy is unlikely to benefit myelodysplastic syndrome (MDS) patients with a bone marrow (BM) blast percentage of ≥ 5% because of the associated short life expectancy. In contrast, using a serum ferritin of 1,000 ng/mL as a surrogate for iron overload, a recent study suggested a negative impact of iron overload on overall survival in MDS patients with < 5% BM blasts including those with refractory anemia with ringed sideroblasts (RARS) (Malcovati et al. JCO2005:23:7594). In the current retrospective study, we examined the validity of this observation in a large group of RARS patients seen at a single institution. Methods: The diagnosis of RARS was based on the French-American-British cooperative group criteria. Serum ferritin levels obtained both at diagnosis and during follow-up as well as total number of packed red blood cells transfused were recorded. Standard statistical methods were used for survival and other analyses. Results: A total of 126 RARS patients (median age 73 years, range 44-90; 67% males) were seen at our institution over the last several years. At diagnosis, median (range) values were 9.4 g/dL (5.7-13.4) for hemoglobin (Hgb), 2.8 × 109/L (0.3-13.7) for absolute neutrophil count (ANC) and 214× 109/L (22-819) for platelet count; 38% of the patients had received red blood cell (RBC) transfusions at the time of initial diagnosis. International Prognostic Scoring System (IPSS) risk distributions in evaluable patients were 66% for low, 28% for intermediate-1 and 6% for intermediate-2 risk. Median follow-up was 36 months and during this time 83 patients (66%) had died and leukemic transformation was documented antemortem in 8 patients (6%). As expected, IPSS was highly predictive of survival outcome (p<0.0001). In addition, history of RBC transfusions at diagnosis (p=0.001) but not the total number of RBC transfusions received during the entire disease course (p=0.17) carried an independent prognostic value for inferior survival. There were no significant correlations between overall survival and serum ferritin level at either diagnosis (median 567 ng/mL, range 16-3,475; p=0.24) or the maximum value during follow-up (median 1,108 ng/mL; range 238-43,500; p=0.72). Similarly, Kaplan-Meier plots of 77 evaluable patients stratified by serum ferritin levels of < or ≥1000 ng/mL at diagnosis or 107 evaluable patients stratified by maximal serum ferritin levels of < 1000, 1000-5000, or > 5000 ng/mL during follow-up revealed similar curves (Figure). Conclusions: The current study suggests no significant association between transfusional hemosiderosis and survival even in good risk patients with MDS. The study also undermines the utility of serum ferritin as a surrogate for assessing the value of therapeutic iron chelation. Figure Figure Figure Figure

scholarly journals Imaging of Body Iron Stores in Transfusion-Dependent Patients By Liver Dual- Energy CT

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 2677-2677
Author(s):  
Hironori Kobayashi ◽  
Norihiko Yoshimura ◽  
Takashi Ushiki ◽  
Yasuhiko Shibasaki ◽  
Masato Moriyama ◽  
...  
Keyword(s):  
Blood Cell ◽  
Serum Ferritin ◽  
Red Blood Cell ◽  
Chelation Therapy ◽  
Iron Chelation ◽  
Iron Deposition ◽  
Liver Iron ◽  
Body Iron ◽  
Iron Stores ◽  
Red Blood Cell Transfusions

Abstract [Background] Chronic red blood cell transfusions, leading to iron overload, cause hepatic, cardiac, and endocrine dysfunction. It is very important to monitor body iron stores and to start optimal iron chelation therapy. Serum ferritin, which is widely used as a surrogate marker of body iron stores, elevate under inflammation or liver injury. Therefore, reliable techniques to evaluate body iron stores are needed. The liver iron concentration (LIC) is thought to be an indicator of total body iron stores and measurement of the T2* value by MRI has been a standard noninvasive technique to evaluate LIC. It should be worthwhile using CT, which is lower cost and widely applied in clinical setting. Dual-energy CT (DECT) is a technique to obtain additional information regarding tissue composition compared with what single-energy CT can provide. This technique is based on the fact that substances show different densities by two different energies. However, the role of DECT in monitoring LIC remains to be clarified. We examined whether a DECT could be a new technique for the measurement of LIC. [Patients and Methods] Eight transfusion-dependent patients underwent DECT. Patient 1 was a 54-year-old male with MDS (RCMD-RS). He received 66 U red blood cell transfusions in our hospital, and depended on transfusion in another hospital, but the total doses were not available. Patient 2 was a 37-year-old male with AML in 2nd relapse. His total red blood cell transfusions were 54 U. Patient 3 was a 66-year-old female with AML with MRC in 1st CR. She received 37 U red blood cell transfusions in our hospital, and depended on transfusion in another hospital, but total doses were not available. Patient 4 was a 47-year-old female who had received renal transplantation for chronic renal failure. She received 12 U red blood cell transfusions in our hospital, and had a long history of transfusion dependence in another hospital, but total doses were not available. Patient 5 was a 57-year-old male with MDS (RCMD). His total red blood cell transfusions were 148 U, and he received iron chelation therapy. Patient 6 was a 65-year-old male with AML with MRC. His total red blood cell transfusions were 82 U, and he received iron chelation therapy. Patient 7 was a 47-year-old male with AML in 3rd CR. He received 28 U red blood cell transfusions in our hospital, and depended on transfusion in another hospital, but total doses were not available. Patient 8 was a 52-year-old female with AA. Her total blood cell transfusions were 92 U. [Results] All patients were examined for serum ferritin and patients 1, 3, 4, 6, 7, and 8 also underwent liver MRI. Serum ferritin levels of patients 1, 3, 4, 6, 7, and 8 were 961, 2168, 7875, 795, 1921, and 5104 ng/ml, respectively. These patients showed hypointensity on MRI T2*-weighted images, and also showed liver iron deposition by DECT. Serum ferritin of patient 5 was 4042 ng/ml, and he showed liver iron deposition by DECT. Serum ferritin of patient 2 was 6113 ng/ml, and he did not show liver iron deposition by DECT. [Conclusion] Our results suggest that liver DECT could visualize liver iron deposition of transfusion-dependent patients and could be a new technique for the measurement of LIC instead of MRI. Disclosures No relevant conflicts of interest to declare.

scholarly journals Diagnosis and clinical management of enzymopathies

Hematology ◽  
2021 ◽  
Vol 2021 (1) ◽  
pp. 341-352
Author(s):  
Lucio Luzzatto
Keyword(s):  
Blood Cell ◽  
Red Blood Cell ◽  
Iron Chelation ◽  
Hematopoietic Stem ◽  
Dark Urine ◽  
Mild Anemia ◽  
Cell Enzyme ◽  
Genetically Determined ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Chronic Hemolytic Anemia

Abstract At least 16 genetically determined conditions qualify as red blood cell enzymopathies. They range in frequency from ultrarare to rare, with the exception of glucose-6-phosphate dehydrogenase deficiency, which is very common. Nearly all these enzymopathies manifest as chronic hemolytic anemias, with an onset often in the neonatal period. The diagnosis can be quite easy, such as when a child presents with dark urine after eating fava beans, or it can be quite difficult, such as when an adult presents with mild anemia and gallstones. In general, 4 steps are recommended: (1) recognizing chronic hemolytic anemia; (2) excluding acquired causes; (3) excluding hemoglobinopathies and membranopathies; (4) pinpointing which red blood cell enzyme is deficient. Step 4 requires 1 or many enzyme assays; alternatively, DNA testing against an appropriate gene panel can combine steps 3 and 4. Most patients with a red blood cell enzymopathy can be managed by good supportive care, including blood transfusion, iron chelation when necessary, and splenectomy in selected cases; however, some patients have serious extraerythrocytic manifestations that are difficult to manage. In the absence of these, red blood cell enzymopathies are in principle amenable to hematopoietic stem cell transplantation and gene therapy/gene editing.

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