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Infiltrative Cardiomyopathies
Published in Andreas P. Kalogeropoulos, Hal A. Skopicki, Javed Butler, Heart Failure, 2023
Arthur Qi, Quynh Nguyen, Haran Yogasundaram, Gavin Y. Oudit
The most common causes of acquired iron overload are transfusion-dependent anemias, such as thalassemia and sickle cell disease (Table 36.1). Thalassemia is characterized by a deficiency in the synthesis of one or more globin chains of haemoglobin.44 It is estimated that 1–5% of the world population are carriers of a mutant thalassemia allele; the disease is mostly prevalent in sub-Saharan Africa, the Mediterranean region, the Middle East, the Indian subcontinent, and East and Southeast Asia. Similarly, sickle cell disease, which results from mutations altering the β-globin chain of hemoglobin, is also known to be highly prevalent in Africa, India, the Mediterranean region, and the Middle East.45 With migration, sickle cell disease has been introduced to areas in which it was not historically endemic, such as northern Europe and North America. In addition to thalassemia and sickle cell anemia, other hematological conditions, such as myelodysplastic syndrome, sideroblastic anemia, acute myeloid leukemia, and congenital dyserythropoietic anemia, are all associated with secondary iron overload resulting from frequent blood transfusion.42,43 Additionally, iron overload has also been recognized in dialysis patients due to administration of erythropoiesis-stimulating agents and supplemental iron.46
Blood transfusion in patients requiring long-term support
Published in Jennifer Duguid, Lawrence Tim Goodnough, Michael J. Desmond, Transfusion Medicine in Practice, 2020
The extent of iron deposition depends on the number of transfusions received. Therefore the risk of iron overload is highest in thalassaemia major, patients with SCD on chronic transfusion programmes, some patients with MDS, and patients with rare disorders such as congenital dyserythropoietic anaemia. Another major determinant of iron balance is iron-chelation therapy. With availability and compliance to desferrioxamine treatment, survival of patients with thalassaemia major in developed countries has extended into the fourth decade of life; in countries where iron chelators are not available, or in cases of poor compliance, only 30–40% of patients survive over 25 years.98–99 Heart disease is the major determinant of survival in thalassaemia, but liver disease becomes a major cause of death in older patients, with iron overload being aggravated by infections (hepatitis C) and alcohol abuse. However, in the absence of adequate chelation, liver fibrosis and cirrhosis may develop in the first decade of life.54
Cowden Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Located on in the short (p) arm of chromosome 20 at position 11.23 (i.e., 20p11.23), the SEC23B gene encodes a component of coat protein complex II (COPII), which is involved in the formation of vesicles (so-called endoplasmic reticulum [ER]) for transportation of proteins and other materials within cells. Mutations in the SEC23B gene are identified in 2% of all Cowden syndrome cases and may be also responsible for producing unusually shaped erythroblasts with extra nuclei that cannot mature into functional red blood cells, leading to congenital dyserythropoietic anemia type II, enlarged liver and spleen (hepatosplenomegaly), and an abnormal buildup of iron [14].
Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype
Published in Hemoglobin, 2021
Georgina Martin, Runa M. Grimholt, Doan Le, Anne G. Bechensteen, Olav Klingenberg, Bente Fjeld, Thomas Fourie, Renee Perrier, Melanie Proven, Shirley J. Henderson, Noémi B. A. Roy
Hb Calgary presents with a phenotype of severe dyserythropoiesis and transfusion dependence in early infancy. In both cases, given the age of presentation and the findings on bone marrow examination, the diagnosis of congenital dyserythropoietic anemia type II was entertained. Similar to other hyperunstable Hb variants resulting from heterozygous β-globin variants, this variant was not isolated on Hb electrophoresis [2] and is not associated with an elevated Hb A2 [4–6,8], and therefore, β-globin gene sequencing is critical for diagnosis. The presentation of both infants with Hb Calgary in the neonatal period is rather unusual for a β-globin mutation, given the presence of relatively high Hb F values at this age. It could be that the degree of instability of Hb Calgary results in such severe dyserythropoiesis that it interferes with red cell production, even when making up less than half of the fraction of total Hb being made.
Fetal-onset congenital dyserythropoietic anemia type 1 due to CDAN1 mutations presenting as hydrops fetalis
Published in Pediatric Hematology and Oncology, 2018
Sha Liu, Ying-Na Liu, Li Zhen, Dong-Zhi Li
Congenital dyserythropoietic anemia (CDA) is a rare hematologic disorder characterized by ineffective erythropoiesis with dysplastic morphologic features.1 It is classified into types 1, 2, and 3, along with some variants. The anemia is usually mild to moderate in patients with CDA; however, it may be more serious and required transfusion. Anemia is rarely very severe, and the affected patient can develop fatal hydrops fetalis in utero.2–4 We report on a case of CDA type 1 with hydrops fetalis detected by ultrasound, which subsequently was confirmed by genetic testing using whole-exome sequencing (WES).
A deep dive into future therapies for microcytic anemias and clinical considerations
Published in Expert Review of Hematology, 2023
François Rodrigues, Tereza Coman, Guillemette Fouquet, Francine Côté, Geneviève Courtois, Thiago Trovati Maciel, Olivier Hermine
Although constitutive sideroblastic anemias have different causal mechanisms, they are worsened by ineffective erythropoiesis and thus could be alleviated by the latter treatments. Such innovative therapies could also apply to non-microcytic anemias with ineffective erythropoiesis, such as congenital dyserythropoietic anemia.