Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR)
| Autor: | Omar Niss, Robert B. Lorsbach, Mikaela Berger, Satheesh Chonat, Morgan McLemore, David Buchbinder, Timothy McCavit, Linda G. Shaffer, Jessica Simpson, Jeffrey H. Schwartz, Jessica Meznarich, Myesa Emberesh, Katie G. Seu, Wenying Zhang, Theodosia A. Kalfa, Ammar Husami, Theodosia Kalfa, Robert Lorsbach, Carolyn Lutzko, Adam Nelson, Charles Quinn, Clarissa Johnson, Jennifer A. Rothman, Sweta Gupta, Mara Nuñez Toscano, Melissa Forouhar, Vinod K. Gidvani-Diaz, James B. Ball, Gavin D. Roach, KayeLyn Wagner, Sam Milanovich, James Boyer, Jane Chawla, Christine Moore Smith, Adrienne Lee, Vlad C. Radulescu, Yasmina L. Abajas, A. Kim Ritchey, Hunter R. Underhill, Yaddanapudi Ravindranath, Niketa C. Shah |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Ineffective erythropoiesis Adult Male Pediatrics medicine.medical_specialty Adolescent Anemia medicine.medical_treatment Splenectomy medicine.disease_cause Article Congenital dyserythropoietic anemia type I 03 medical and health sciences Young Adult 0302 clinical medicine Bone Marrow medicine Humans Blood Transfusion Genetic Testing Registries Child Molecular Biology Genetic testing Anemia Dyserythropoietic Congenital Glycoproteins medicine.diagnostic_test business.industry Nuclear Proteins Cell Biology Hematology medicine.disease Natural history 030104 developmental biology Child Preschool Cohort Mutation North America Molecular Medicine Female business Congenital dyserythropoietic anemia 030215 immunology |
| Zdroj: | Blood Cells Mol Dis |
| ISSN: | 1096-0961 |
| Popis: | Congenital dyserythropoietic anemias (CDAs) are characterized by ineffective erythropoiesis and distinctive erythroblast abnormalities; the diagnosis is often missed or delayed due to significant phenotypic heterogeneity. We established the CDA Registry of North America (CDAR) to study the natural history of CDA and create a biorepository to investigate the pathobiology of this heterogeneous disease. Seven of 47 patients enrolled so far on CDAR have CDA-I due to biallelic CDAN1 mutations. They all presented with perinatal anemia and required transfusions during infancy. Anemia spontaneously improved during infancy in three patients; two became transfusion-independent rapidly after starting interferon-α(2); and two remain transfusion-dependent at last follow-up at ages 5 and 30 y.o. One of the transfusion-dependent patients underwent splenectomy at 11 y.o due to misdiagnosis and returned to medical attention at 27 y.o with severe hemolytic anemia and pulmonary hypertension. All patients developed iron overload even without transfusions; four were treated with chelation. Genetic testing allowed for more rapid and accurate diagnosis; the median age of confirmed diagnosis in our cohort was 3 y.o compared to 17.3 y.o historically. In conclusion, CDAR provides an organized research network for multidisciplinary clinical and research collaboration to conduct natural history and biologic studies in CDA. |
| Databáze: | OpenAIRE |
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