We report the case of a 28-year-old female followed for congenital dyserythropoiesis type I which required repeated transfusions. Alpha-2a interferon treatment was started because of post-transfusion chronic viral hepatitis type C. Following this treatment, haemoglobin level increased and reached normal value during the 24 weeks of interferon treatment. When interferon therapy was stopped, haemoglobin level returned to previous values, requiring more transfusions. Resumption of interferon therapy resulted again in a complete normalization of haemoglobin level. Erythrokinetic studies demonstrated a striking reduction of the ineffective erythropoiesis, and electron microscopy study a reduction in nuclear structure abnormalities. To our knowledge, this is the first report of the efficacy of interferon in congenital dyserythropoiesis.
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http://dx.doi.org/10.1111/j.1365-2141.1995.tb08442.x | DOI Listing |
J Med Case Rep
November 2024
Department of Medical Genetics, Adana Faculty of Medicine, Adana City Education and Research Hospital, University of Health Sciences, Adana, Turkey.
Pediatr Blood Cancer
January 2025
Division of Pediatric Hematology and Oncology, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.
Ann Hematol
October 2024
Department of Haematogenetics, ICMR-National Institute of Immunohematology, Indian Council of Medical Research, 13th Floor, NMS Building, King Edward Memorial (KEM.) Hospital Campus, Parel, Mumbai, 400012, India.
Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders, of which type II CDA is the most common. Mutations in the gene located on chromosome 20 result in this autosomal recessive disorder. In this case report, we present a case of CDA II with unique biopsy findings being detected via genetic testing.
View Article and Find Full Text PDFInt J Lab Hematol
August 2024
Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli 'Federico II', Naples, Italy.
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