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Pearson syndrome
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Patients with this syndrome (Figures 55.2–55.5) have severe transfusion-dependent anemia [1]. Onset is in the early weeks of life and pallor may be noted in the neonatal period. Anemia is macrocytic and aregenerative. Reticulocyte percentages are low. Hemoglobin F levels may be increased, and the free-erythrocyte protoporphyrin level may be increased [1]. Neutropenia and thrombocytopenia are variable. Either or both may begin concomitantly with the anemia or shortly thereafter, or pancytopenia may become progressively worse. In some, neutropenia may be episodic. Resistance to infection is impaired and death may occur in infancy, from infection such as E. coli sepsis. Death prior to three years of age has been reported in 62 percent of patients [7, 8]. Neonatal death has been reported [9]. On the one hand, in patients surviving infancy, the anemia may disappear spontaneously, and the hemoglobin stabilizes as early as 11 months or two to three years of age. In such a patient, platelet counts may remain low. On the other hand, the anemia may first be evident at 13 months of age [10] with spontaneous recovery seven months later.
Diamond-Blackfan Anemia
Published in Stephen A. Feig, Melvin H. Freedman, Clinical Disorders and Experimental Models of Erythropoietic Failure, 2019
Jeffrey M. Lipton, Blanche P. Alter
The differential diagnosis of DBA includes the normochromic macrocytic or normochromic normocytic anemias that present during the first year of life. These anemias are pathophysiologically distinct from the pure red cell aplasia seen in adults (see Chapter 4), which is frequently associated with an underlying disorder. For example, the association of pure red cell aplasia with thymoma, as described in adults, is virtually unheard of in the typical DBA age groups, although it was reported in a 5-year-old child.134 A careful history, physical examination, and examination of the peripheral blood smear can usually rule out hemorrhage, myelosuppression due to infection, renal failure, infiltrative disease, severe protein malnutrition, or drug-related red cell failure, as well as the aplastic crisis of a chronic hemolytic anemia (such as sickle cell anemia or hereditary spherocytosis). Because folate deficiency as a cause of the hypoplastic crises associated with chronic hemolytic anemia is prevented by prophylactic administration of the vitamin, acquired hypoplastic anemia in these patients is now most frequently a consequence of human parvovirus infection. Evidence of human parvovirus (HPV) infection has been found in patients with a variety of sickle cell syndromes,135,136 hereditary spherocytosis,136,137 pyruvate kinase deficiency,138 and thalassemia after an aplastic crisis.136 Red cell aplasia in otherwise normal neonates, resulting in fetal hydrops, and in a patient on treatment for acute lymphoblastic leukemia has also been ascribed to HPV infection.139 Chronic red cell aplasia due to HPV infection in an otherwise normal individual was reported recently.140 After 10 years of transfusion-dependent anemia, he was cured with intravenous immunoglobulin. Thus, HPV infection should be ruled out in all instances of RBC failure in children. The etiology of the RBC failure resulting from HPV infection is suggested by in vitro studies showing that erythroid differentiation is inhibited by the small DNA virus in erythroid precursors derived from proliferating progenitors grown in the presence of HPV containing serum.141
Transfusion-dependent beta thalassemia in Afghanistan: current evidence amid COVID-19 and future recommendations
Published in Hematology, 2021
Shohra Qaderi, Sayed Hamid Mousavi, Attaullah Ahmadi, Shamim Arif, Shekiba Madadi, Sohrab Ayoubi, Don Eliseo Lucero-Prisno
Transfusion-dependent beta thalassemia (TDT) is a severe form of beta thalassemia in which there is a minimal to no beta globin chain production in the body [1]. This situation eventually leads to major profound and lifelong transfusion-dependent anemia with a high mortality rate of about 85 percent if left untreated [2,3]. TDT patients in older age groups often suffer from functional hyposplenism or asplenia. This increases the risk of bacterial infections leading to serious illness or life-threatening sepsis [2]. Without blood transfusions, thalassemia patients usually die before reaching adolescence. Blood transfusions can help patients have a healthy life and reach adulthood with a near-normal life expectancy. Proper management of thalassemia substantially impacts on the patient’s quality of life [1].
Myelofibrosis: best practices, controversies and 2019 update
Published in Expert Review of Hematology, 2020
Nicole M. Cruz, Usama Gergis, Richard T. Silver
In a matched analysis of PMF patients treated with allo-HCT or conventional therapy in the pre-ruxolitinib era, patients with DIPSS intermediate-2 and high-risk showed improved survival after transplantation, whereas low-risk patients benefitted from a non-transplant approach, and intermediate-1 patients had equivocal outcomes to either approach [83]. As a result, the 2015 European Leukemia Net (ELN) and European Bone Marrow Transplant (EBMT) recommendations state that the following patients should be considered candidates for transplant: 1) patients <65 years with int-2 and high-risk disease, and 2) Int-1 risk with high-risk characteristics such as transfusion-dependent anemia, circulating blasts >2%, adverse cytogenetics, presence of ASXL-1 and/or SRSF2 and triple negative disease. The National Comprehensive Cancer Network (NCCN) treatment algorithm reflects these recommendations [84].
Diagnosis, management and response criteria of iron overload in myelodysplastic syndromes (MDS): updated recommendations of the Austrian MDS platform
Published in Expert Review of Hematology, 2018
Peter Valent, Reinhard Stauder, Igor Theurl, Klaus Geissler, Thamer Sliwa, Wolfgang R. Sperr, Peter Bettelheim, Heinz Sill, Michael Pfeilstöcker
The myelodysplastic syndromes (MDS) comprise a heterogeneous group of clonal, myeloid disorders characterized by a maturation defect in myelopoietic cells, bone marrow (BM) failure, and an enhanced risk to transform to secondary acute myeloid leukemia (sAML) [1–5]. In a majority of all patients, transfusion-dependent anemia is detected at diagnosis or develops after a few or several months. Since their initial description, MDS have been classified according to morphological features of BM and peripheral blood leukocytes. The first generally accepted proposal was presented by the French–American–British cooperative study group around John Bennett [6,7]. The World Health Organization (WHO) has worked out updated classifications in 2001, 2008, and 2016 [8–11]. In these updates, MDS variants have been defined based on the presence of un-lineage or multi-lineage dysplasia, blast cell counts, and the presence of distinct cytogenetic abnormalities.