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Anemias of Bone Marrow Failure
Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019
Diamond-Blackfan anemia is a congenital anemia characterized by selective erythroid hypoplasia. Unlike the majority of cases of adult PRCA or transient erythroblastopenia of childhood, it appears to result from an intrinsic erythroid progenitor defect which alters responsiveness to erythropoietin. Diamond-Blackfan anemia is often associated with other congenital anomalies.
Myelodysplastic Syndromes
Published in Wojciech Gorczyca, Atlas of Differential Diagnosis in Neoplastic Hematopathology, 2014
Pure red cell aplasia is a rare disease that can be congenital or acquired. The congenital form, called Diamond–Blackfan anemia, seen in childhood is associated with physical abnormalities, such as craniofacial abnormalities and renal or cardiac defects. The acquired chronic form of pure red cell aplasia can be primary or secondary to various factors, including infections, malignancies, collagen vascular disease, or drugs. Large granular lymphocytes (T-LGL) leukemia is the most common underlying hematological malignancy (an associated thymoma is found in up to 22% of patients). The BM is pure red cell aplasia and either hypocellular or normocellular, and typically shows selective decrease or absence of red cell precursors beyond the proerythroblast stage (the maturation of the granulocytic and megakaryocytic series is normal). Iron storage is often increased (due to blood transfusions). There is frequently an increase in hematogones. In parvovirus infections, enlarged proerythroblasts with intranuclear inclusions may be seen and the dyserythropoiesis might very prominent.
The White Spotting and Steel Hereditary Anemias of the Mouse
Published in Stephen A. Feig, Melvin H. Freedman, Clinical Disorders and Experimental Models of Erythropoietic Failure, 2019
Richard Blouin, Alan Bernstein
The administration of Steel factor in vivo results in an increase in the number of hematopoietic cells within a broad range of hematopoietic cell lineages. In rats, for example, Steel factor alone causes an increase in myeloblasts and promyelocytes after a single intravenous injection.79 The combination of Steel factor and G-CSF causes a synergistic myeloid hyperplasia in the bone marrow and spleen and a synergistic increase in circulating neutrophils. The in vivo injection of Steel factor plus GM-CSF results in an increase in marrow neutrophils. In primates Steel factor stimulates an increase in the number of erythrocytes, neutrophils, eosinophils, basophils, monocytes, and lymphocytes in the peripheral blood.80 Taken together, these results demonstrate that Steel factor is a potent cytokine that can stimulate increase in the number of progenitor cells and mature cells of both myeloid and lymphoid lineages in peripheral blood and marrow. These results suggest that Steel factor may play an important clinical role in the treatment of a number of hematopoietic disorders. In this regard, it has been recently observed that the growth of hematopoietic progenitor cells from most, but not all, patients with Diamond-Blackfan anemia, can be stimulated by the addition of Steel factor, together with IL-3 and EPO.72,81,82 Diamond-Blackfan anemia is a congenital disorder of erythropoiesis, associated with macrocytic anemia and other physical anomalies. Steel factor can also induce an increase in the levels of fetal hemoglobin in human BFU-E from sickle cells patients in vitro.3 Thus, if Steel factor is capable of stimulating the growth of erythroid cells in vivo from Diamond-Blackfan patients or increasing the levels of fetal hemoglobin in patients with sickle cell anemia, it might provide an entirely new approach, either alone or in combination with other factors, for the treatment of these and other hematopoietic disorders.
Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19
Published in Pediatric Hematology and Oncology, 2021
Satoru Takafuji, Takeshi Mori, Noriyuki Nishimura, Nobuyuki Yamamoto, Suguru Uemura, Kandai Nozu, Kiminori Terui, Tsutomu Toki, Etsuro Ito, Hideki Muramatsu, Yoshiyuki Takahashi, Masafumi Matsuo, Tomohiko Yamamura, Kazumoto Iijima
Diamond–Blackfan anemia (DBA) is a rare inherited autosomal dominant bone marrow failure disorder, characterized by normocellular bone marrow with erythroid hypoplasia, congenital anomalies, and a predisposition for malignancies.1,2 Transcriptional abnormalities related to ribosomal dysfunction are the central mechanisms of DBA, and result in TP53 pathway activation.3 DBA is mainly caused by pathogenic variants in ribosomal proteins, and mutations in 20 ribosomal protein genes (RPS19, RPS24, RPS17, RPL35A, RPL5, RPL11, RPS7, RPL26, RPS10, RPS26, RPL15, RPL31, RPS29, RPS28, RPL27, RPS27, RPS15A, RPL35, RPL18, and RPL9) have been identified as responsible for DBA.4–18 Additionally, extremely rare variants in non-ribosomal proteins like TSR2 (a ribosomal maturation factor) and GATA1 (an erythroid transcription factor), have been identified as responsible for DBA.12,19 The most common causative gene of DBA is RPS19. RPS19 reads were mapped to the human reference sequence NM_001022.4. Haploinsufficiency-mediated reduced RPS19 expression causes selective activation of the p53 pathway in erythroid progenitor cells but not in cells from other hematopoietic lineages. Activation of the p53 pathway results in erythroid-specific cell cycle arrest and apoptosis in patients with DBA.20,21
Pure red cell aplasia and seronegative myasthenia gravis in association with thymoma
Published in Journal of Community Hospital Internal Medicine Perspectives, 2020
Sun Yong Lee, Amandeep Gill, Syung Min Jung
PRCA results from an autoimmune-mediated hypo-proliferation of erythrocyte precursors in the bone marrow. Anemia is resulted from an autoimmune-mediated destruction of erythroid precursors [4]. PRCA can be classified with congenital and acquired forms. A congenital form of PRCA is Diamond-Blackfan anemia. Primary acquired PRCA is an autoimmune disorder associated with autoantibody that interrupts erythroid differentiation. Secondary acquired PRCA is associated with collagen vascular/autoimmune disorders; systemic lupus erythematosus, rheumatoid arthritis, and inflammatory bowel disease; lymphoproliferative disorders, Parvovirus B19, thymoma and other solid tumors, drugs, or toxic agents [5]. PRCA appears to be rare in known thymoma patients (<5%). However, a significant portion of PRCA (8.5–50%) has been associated with thymoma [6]. It is important to note that imaging studies for thymoma are indicated when patients initially present with PRCA as clinical signs and symptoms of thymoma can be subtle and subclinical.
Iron overload directly affecting the ovaries in a patient with Diamond–Blackfan anaemia: a case report
Published in Human Fertility, 2018
Mariano Mascarenhas, Victoria Rawnsley, Adam Balen
The patient was diagnosed with congenital anaemia during infancy and further evaluation concluded the diagnosis of Diamond–Blackfan anaemia (DBA). DBA is characterized by congenital erythroid aplasia leading to a reduced red blood cell count while the platelet and white blood cell counts remain unaffected. She had required regular blood transfusions since childhood and was on regular iron chelation therapy. Her current iron chelation regimen included parenteral desferrioxamine and oral deferasirox. She had primary amenorrhoea with an endocrine evaluation indicating hypogonadotrophic hypogonadism with extremely low serum concentrations of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) (1.1 IU/l and 0.5 IU/l, respectively). She was started on the oral contraceptive pill (OCP) for the purpose of providing hormonal replacement and allowing regular menstrual cycles. She then stopped the OCP as she was wishing to conceive. She had a good cardiovascular reserve and exercise capacity as she ran 5 km every week and attended the gym twice a week. Her height was 1.64 m and her weight was 67.7 kg with a BMI of 25.1 kg/m2. She was referred to our unit for fertility advice as she was planning to start a family with her partner. Her partner’s age was 26 years, and he was healthy with no significant past medical history.