Congenital dyserythropoietic anemia in children: Case series with review of literature
Congenital dyserythropoietic anemia (CDA) are a diverse category of heritable anemia. The causative genetic abnormalities interfere with the normal developmental process of erythrocyte maturation inside the bone marrow. As a consequence, red blood cell precursors die prematurely in the marrow (ineff...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2024-06-01
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| Series: | Pediatric Hematology Oncology Journal |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2468124524000093 |
| _version_ | 1797256358326697984 |
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| author | Jasmita Dass Amiya Ranjan Nayak Vandana Puri Mukul Aggarwal |
| author_facet | Jasmita Dass Amiya Ranjan Nayak Vandana Puri Mukul Aggarwal |
| author_sort | Jasmita Dass |
| collection | DOAJ |
| description | Congenital dyserythropoietic anemia (CDA) are a diverse category of heritable anemia. The causative genetic abnormalities interfere with the normal developmental process of erythrocyte maturation inside the bone marrow. As a consequence, red blood cell precursors die prematurely in the marrow (ineffective erythropoiesis) and the altered mature RBCs that reach peripheral blood have reduced survival. Due to relative rarity and resemblance to other common disorders, the diagnosis is often delayed. Apart from having symptoms related to anemia and chronic hemolysis, most of these patients suffer from complications of iron overload even if not transfusion dependent. Classically, 3 major categories of CDAs have been described (I, II, III). Other described CDA variants are rare. With easier accessibility and widespread availability of genetic testing, it is possible to make molecular diagnoses for most cases. The diagnosis can be accelerated by targeted next-generation sequencing. There's no unifying theory explaining the pathogenesis behind the disease causation. In-depth understanding at the cellular level has clarified the multifactorial pathologic process. In this review, we describe the epidemiology, pathophysiology, clinical features, and management options available for CDA. We also summarize a brief report of 17 patients with CDA diagnosed and treated at our center in the last 5 years. |
| first_indexed | 2024-04-24T22:20:28Z |
| format | Article |
| id | doaj.art-9797929bd085492cb41ce17695bb8b5d |
| institution | Directory Open Access Journal |
| issn | 2468-1245 |
| language | English |
| last_indexed | 2024-04-24T22:20:28Z |
| publishDate | 2024-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Pediatric Hematology Oncology Journal |
| spelling | doaj.art-9797929bd085492cb41ce17695bb8b5d2024-03-20T06:11:00ZengElsevierPediatric Hematology Oncology Journal2468-12452024-06-01925561Congenital dyserythropoietic anemia in children: Case series with review of literatureJasmita Dass0Amiya Ranjan Nayak1Vandana Puri2Mukul Aggarwal3Department of Hematology, All India Institute of Medical Sciences, New Delhi, IndiaDepartment of Hematology, All India Institute of Medical Sciences, New Delhi, IndiaDepartment of Hematology, All India Institute of Medical Sciences, New Delhi, IndiaCorresponding author.; Department of Hematology, All India Institute of Medical Sciences, New Delhi, IndiaCongenital dyserythropoietic anemia (CDA) are a diverse category of heritable anemia. The causative genetic abnormalities interfere with the normal developmental process of erythrocyte maturation inside the bone marrow. As a consequence, red blood cell precursors die prematurely in the marrow (ineffective erythropoiesis) and the altered mature RBCs that reach peripheral blood have reduced survival. Due to relative rarity and resemblance to other common disorders, the diagnosis is often delayed. Apart from having symptoms related to anemia and chronic hemolysis, most of these patients suffer from complications of iron overload even if not transfusion dependent. Classically, 3 major categories of CDAs have been described (I, II, III). Other described CDA variants are rare. With easier accessibility and widespread availability of genetic testing, it is possible to make molecular diagnoses for most cases. The diagnosis can be accelerated by targeted next-generation sequencing. There's no unifying theory explaining the pathogenesis behind the disease causation. In-depth understanding at the cellular level has clarified the multifactorial pathologic process. In this review, we describe the epidemiology, pathophysiology, clinical features, and management options available for CDA. We also summarize a brief report of 17 patients with CDA diagnosed and treated at our center in the last 5 years.http://www.sciencedirect.com/science/article/pii/S2468124524000093Congenital dyserythropoietic anemiaSEC23BCDAN1Stem cell transplant |
| spellingShingle | Jasmita Dass Amiya Ranjan Nayak Vandana Puri Mukul Aggarwal Congenital dyserythropoietic anemia in children: Case series with review of literature Pediatric Hematology Oncology Journal Congenital dyserythropoietic anemia SEC23B CDAN1 Stem cell transplant |
| title | Congenital dyserythropoietic anemia in children: Case series with review of literature |
| title_full | Congenital dyserythropoietic anemia in children: Case series with review of literature |
| title_fullStr | Congenital dyserythropoietic anemia in children: Case series with review of literature |
| title_full_unstemmed | Congenital dyserythropoietic anemia in children: Case series with review of literature |
| title_short | Congenital dyserythropoietic anemia in children: Case series with review of literature |
| title_sort | congenital dyserythropoietic anemia in children case series with review of literature |
| topic | Congenital dyserythropoietic anemia SEC23B CDAN1 Stem cell transplant |
| url | http://www.sciencedirect.com/science/article/pii/S2468124524000093 |
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