DIAMOND-BLACKFEN ANEMIA WITH SEVERE POSTTRANSFUSION IRON OVERLOAD
https://doi.org/10.25587/2587-5590-2024-4-10-17
Abstract
Diamond-Blackfan anemia (DBA) is a rare form of congenital red cell aplasia of hematopoiesis in infants and children, characterized by suppression of erythropoiesis and congenital malformations. The article presents an observation of a child with DBA. The girl was born with severe anemia. The diagnosis was established at the age of 3 months, genetically confirmed at 2 years. Since her birth, she had been receiving monthly transfusion therapy with red blood cells. Treatment with prednisolone, L-leucine was carried out without effect, the child remained transfusion-dependent. The only curative method for this disease is hematopoietic stem cell transplantation (HSCT). With a 14-year-old sibling not suitable, there was no other suitable related donor. By the age of 15, the child had developed serious complications caused by post-transfusion iron overload of the liver (grade 4), myocardium, pituitary gland with the development of liver and heart failure; endocrine disorders in the form of hypopituitarism, primary and secondary hypothyroidism, increased fasting glycemia. In addition, the girl has chronic viral hepatitis C. In order to remove excess iron from the body, the patient has been receiving chelation therapy since the age of 8.
The accumulation of iron in organs leads to irreversible dysfunction, reducing the life expectancy of patients with DBA, so early initiation of chelation therapy is necessary.
About the Authors
E. F. Argunova
Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
ARGUNOVA Elena Filippovna – Cand. Sci. (Medicine), Associated Professor, Department of Pediatrics and Pediatric Surgery, Institute of Medicine
677013, Yakutsk, ul. Oyunskogo, 27
E. M. Kharabaeva
Sakha Republic’s Hospital No. 1 – Nikolaev National Center of Medicine
Russian Federation
Russian Federation
KHARABAEVA Elena Mihajlovna – pediatric oncologist, head of the Oncological Department, Pediatric Center
677008, Yakutsk, Sergelyahskoe shosse, 4
N. N. Protopopova
Sakha Republic’s Hospital No. 1 – Nikolaev National Center of Medicine
Russian Federation
Russian Federation
PROTOPOPOVA Nadezhda Nikolaevna – hematologist, Oncological Department, Pediatric Center
677008, Yakutsk, Sergelyahskoe shosse, 4
S. A. Kondratieva
Sakha Republic’s Hospital No. 1 – Nikolaev National Center of Medicine
Russian Federation
Russian Federation
KONDRATIEVA Sargylana Afanasevna – pediatric oncologist, Oncological Department, Pediatric Center
677008, Yakutsk, Sergelyahskoe shosse, 4
O. V. Yadreeva
Sakha Republic’s Hospital No. 1 – Nikolaev National Center of Medicine
Russian Federation
Russian Federation
YADREEVA Оlga Valerevna – hematologist, Oncological Department, Pediatric Center
677008, Yakutsk, Sergelyahskoe shosse, 4
S. A. Nikolaeva
Sakha Republic’s Hospital No. 1 – Nikolaev National Center of Medicine
Russian Federation
Russian Federation
NIKOLAEVA Sargylana Afanasevna – pediatric oncologist, Oncological Department, Pediatric Center
677008, Yakutsk, Sergelyahskoe shosse, 4
References
1. Engidaye G, Melku M, et al. Anemia: Genetics, Pathogenesis, Diagnosis and Treatment. EJIFCC. 2019;30(1):67-81. PMID: 30881276; PMCID: PMC6416817.
2. Liu Y, Karlsson S. Perspectives of current understanding and therapeutics of Diamond-Blackfan anemia. Leukemia. 2024;38(1):228. doi: 10.1038/s41375-023-02101-w. PMID: 37973818; PMCID: PMC10776401.
3. Da Costa L, Leblanc T, et al. Diamond-Blackfan anemia. Blood. 2020;10;136(11):1262-1273. doi: 10.1182/blood.2019000947. PMID: 32702755; PMCID: PMC7483438.
4. Campagnoli MF, Garelli E, et al. Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature. Haematologica. 2004;89(4):480-9. PMID: 15075082.
5. Vlachos A, Ball S, et al. Participants of Sixth Annual Daniella Maria Arturi International Consensus Conference. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference. Br J Haematol. 2008;142(6):859-76. doi: 10.1111/j.1365-2141.2008.07269.x. Epub 2008 Jul 30. PMID: 18671700; PMCID: PMC2654478.
6. Chernov VM, Ovsyannikova GS, i dr. Mediko-chastotny`e xarakteristiki anemii Dajmonda-Blekfena u detej v Rossijskoj Federacii. Voprosy` gematologii/onkologii i immunopatologii v pediatrii. 2019;18(3):22-28. DOI: 10.24287/1726-1708-2019-18-3-22-28. (In Russian)
7. Willig TN, Niemeyer CM, et al. Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Société d’Hématologie et d’Immunologie Pédiatrique (SHIP), Gesellshaft für Pädiatrische Onkologie und Hämatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI). Pediatr Res. 1999;46(5):553-61. doi: 10.1203/00006450-199911000-00011. PMID: 10541318.
8. Ball S. Diamond Blackfan anemia. Hematology Am Soc Hematol Educ Program. 2011;2011:487-91. doi: 10.1182/asheducation-2011.1.487. PMID: 22160079.
9. Horn HF, Vousden KH. Cooperation between the ribosomal proteins L5 and L11 in the p53 pathway. Oncogene. 2008;27(44):5774-84. doi: 10.1038/onc.2008.189. Epub 2008 Jun 16. PMID:18560357.
10. Federal`ny`e klinicheskie rekomendacii po okazaniyu medicinskoj pomoshhi detyam s anemiej Dajmonda-Blekfena. Ministerstvo zdravooxraneniya Rossijskoj Federacii. 2018 g. [Online] URL:https://nodgo.org/sites/default/files/20191118%20%D0%90%D0%BD%D0%B5%D0%BC%D0%B8%D1%8F%20%D0%94%D0%B0%D0%B9%D0%BC%D0%BE%D0%BD%D0%B4%D0%B0-%D0%91%D0%BB%D0%B5%D0%BA%D1%84%D0%B5%D0%BD%D0%B0.pdf (Accessed 08 Dec 2024). (In Russian)
11. Fedorova DV, Papusha LI, i dr. Sluchaj anemii Dajmonda-Blekfena s posttransfuzionnoj peregruzkoj zhelezom tyazheloj stepeni. Doktor.Ru. 2016;5(122):60-63. DN WBEFTD. (In Russian)
Review
For citations:
Argunova E.F., Kharabaeva E.M., Protopopova N.N., Kondratieva S.A., Yadreeva O.V., Nikolaeva S.A. DIAMOND-BLACKFEN ANEMIA WITH SEVERE POSTTRANSFUSION IRON OVERLOAD. Vestnik of North-Eastern Federal University. Medical Sciences. 2024;(4):10-17. (In Russ.) https://doi.org/10.25587/2587-5590-2024-4-10-17
Views:
118
Email this article 