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Dyskeratosis Congenita
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Supportive care Judicious use of transfusions for severe anemia and thrombocytopenia, as extensive transfusions may be associated with worse outcomes from HCT due to transfusional iron overload and/or alloimmunization against red cells or HLA antigens.Erythropoietin is usually not used due to the potential concerns it may increase the risk of MDS or AML in susceptible individuals.Granulocytic colony stimulating factor (G-CSF) and/or granulocytic monocytic colony stimulating factor (GM-CSF) should be used with caution (due to the same potential concerns of development of MDS and AML) only when absolute neutrophil count below 200/cm or in those who are at risk of invasive bacterial or fungal infections.Anabolic-androgenic steroids (e.g., oxymetholone, fluoxymesterone, danazole) may improve blood counts, though this may be ineffective with drug cessation. Danazole is useful in the setting of an anticipated delay in starting HCT or if a patient is ineligible to receive HCT.
Case 63
Published in Atul B. Mehta, Keith Gomez, Clinical Haematology, 2017
The face shows a greyish pigmentation which is due to transfusional iron overload. The bone marrow aspirate (Perl's stain) shows increased iron (Figure 63a), and the trephine biopsy shows increased haemosiderin (Figure 63b). Other complications of iron overload include endocrinopathy (e.g. diabetes), liver disease and cardiomyopathy. This patient also had extensive ecchymosis (Figure 63c) as a result of her thrombocytopenia.
The Contribution of Iron and Transition Metal Micronutrients to Diabetes and Metabolic Disease
Published in Emmanuel C. Opara, Sam Dagogo-Jack, Nutrition and Diabetes, 2019
Lipika Salaye, Zhenzhong Bai, Donald A. McClain
That iron overload and not some other aspect of HH is responsible for diabetes is supported by two lines of evidence. Firstly, other conditions of iron overload are also associated with diabetes—for example, transfusional iron overload in patients with β-thalassemia. Six percent to 14% of those patients develop diabetes, a number that has decreased with greater implementation of iron chelation therapy [31–33]. A second line of evidence that iron causes diabetes is that the glucose homeostasis abnormalities associated with HH improve with iron reduction, usually accomplished by phlebotomy. Therapeutic phlebotomy remains the mainstay of treatment for HH. Initiation prior to the onset of cirrhosis or diabetes can arrest disease progression. In one study, phlebotomy improved only insulin secretory capacity (Figure 15.2) [34], consistent with the finding that insulin sensitivity may already be high in HH. Hatunic et al. describe similar findings in two studies of patients with HH and abnormal glucose metabolism. Glucose tolerance and insulin secretion, but not insulin sensitivity, assessed either by IVGTT or static measures, improved in most, although improvement was more noticeable in those with prediabetes (IGT) than in those with established diabetes [35]. Hramiak et al. also observed improvement in insulin secretion and glucose tolerance in 14 individuals with hemochromatosis who underwent IVGTT [26]. In participants with IGT, phlebotomy to normalize serum ferritin improved the acute insulin response to glucose by 35% and normalized glucose tolerance. The individuals in this study who had HH complicated by cirrhosis or diabetes did not, however, have an improvement in insulin sensitivity or insulin secretion following phlebotomy. Lastly, following 2 years of routine phlebotomy to achieve a normal serum ferritin and transferrin saturation, Equitani et al. observed a mean increase in insulin secretion of 20% and 33% in HFE carriers with normal glucose tolerance and diabetes, respectively [36]. In sum, all studies suggest a predominant effect of phlebotomy on insulin secretion, although in more advanced disease, damage to beta-cells and insulin secretion may be irreversible.
An evaluation of deferiprone as twice-a-day tablets or in combination therapy for the treatment of transfusional iron overload in thalassemia syndromes
Published in Expert Review of Hematology, 2023
Richa Shah, Aashaka Shah, Sherif M. Badawy
Deferiprone has been shown to be an effective method of iron chelation in patients with transfusional iron overload [81]. DFP has been shown in studies to have a higher rate of adherence compared to DFO and DFX [21]. Some common factors that are seen to affect adherence to therapy included burden of pills, duration of medication administration, and route of medication administration [82]. Oral administration is a major factor in improved medication adherence to DFP compared to DFO which is administered subcutaneously [83]. Recent FDA approval of deferiprone twice-daily tablets compared to three times daily can also improve medication adherence as patients are less likely to miss a dose due to less frequent administration. In a recent study, twice-daily administration of DFP showed increased efficacy to thrice-daily administrations [83]. Patients also reported improved adherence, as well as improved overall health outcomes [83]. Due to less frequent dosing and easier oral administration, DFP may now be utilized more frequently as an iron chelator. This particularly may be the case in the pediatric population where medication adherence is especially complex, and even more so in pediatric patients with chronic diseases such as thalassemia [83].
The Prevention of Thalassemia Revisited: A Historical and Ethical Perspective by the Thalassemia International Federation
Published in Hemoglobin, 2021
Michael Angastiniotis, Mary Petrou, Dimitrios Loukopoulos, Bernadette Modell, Dimitrios Farmakis, Panos Englezos, Androulla Eleftheriou
Historically, the steps toward better management dates back to the 1960s when blood transfusion became increasingly used [6], and iron chelation was recognized as an essential component of treatment [7]. Over the ensuing years, these basic modalities of care have been optimized and new oral iron-chelating agents have been introduced. Increased survival led to the recognition of multi-organ damage due to transfusional iron overload and toxicity and the need for a multi-disciplinary approach to clinical management. In addition, psychosocial aspects were recognized and community support was introduced. This increasing complexity of patient care required increasing resources and demands on health systems, especially felt in high prevalence countries. Reducing birth incidence as a means of reducing the public health impact and persuading health authorities to provide optimal care and saving resources, hopefully for the benefit of affected patients, became imperative. The willingness to invest in treatment was and still is, in many settings, limited by the lack of in-depth knowledge of the real needs of these conditions by the health authorities. In addition, perceived ‘other’ priorities, such as infectious diseases, have been put forward as a reason for avoiding effectively addressing the issue of congenital disorders. Over and above this, the lack of precise epidemiological data has continued to sustain the view that these are rare disorders, with a low health burden and public health significance.
Blood product administration during high risk neuroblastoma therapy
Published in Pediatric Hematology and Oncology, 2020
Allison Silverstein, Kiranmye Reddy, Valeria Smith, Jennifer H. Foster, Heidi V. Russell, Sarah B. Whittle
These results show that as therapy has intensified over time, so too have exposures to blood products. Blood product transfusions carry several medical and non-medical risks. Increases in transfusion requirements likely lead to additional or longer clinic visits, hospitalizations, and emergency room visits, all of which contribute to the burden of diagnosis to a family including time away from work, school and home, and costs to both the family and medical system. Medical risks of transfusion include acute risks such as transfusion reactions, viral and bacterial infections, and chronic risks including immune injury and modulation and transfusional iron overload.9,17–19 While little is known regarding long-term effects from platelet transfusions, repeated red blood cell transfusions are known to cause iron overload.9,18