A DELAYED DIAGNOSIS OF CONGENITAL DYSERYTHROPOIETIC ANAEMIA IN EARLY ADULTHOOD AFTER YEARS OF TRANSFUSION THERAPY
DOI:
https://doi.org/10.55519/JAMC-S4-13305%20Keywords:
Congenital, Dyserthropoietic, Anemia, Type 2, TransfusionAbstract
Congenital dyserthropoietic anaemias (CDAs) constitute a diverse category of anaemia marked by differing levels of ineffective erythropoiesis and subsequent development of secondary hemochromatosis. Congenital dyserthropoietic anaemia (CDA) type 2 is an uncommon genetic disorder characterized by mild to severe anaemia. The rarity of this condition can contribute to frequent misdiagnoses, as the morphological abnormalities and the clinical features it presents are commonly shared with other anaemias that are clinically related. Therefore, we report a case involving a 24-year-old female patient with complaints of epigastric pain, vomiting, weight loss, and a history of frequent blood transfusions. A bone marrow biopsy confirmed the diagnosis of Congenital Dyserthropoietic Anaemia type 2. The management approach involved interdisciplinary support and regular psychotherapy for both the patient and her family.References
1. Al Hussien HF, Al‐Ekeer BN, Serhan HA, Haddadin I, Nashwan AJ. Rare congenital Dyserythropoietic anemia of childhood: A case report. Clin Case Rep 2023;11(2):e6975.
2. Hassan MM, Mirza AA, Zaidi R, Malik M, Javaid M. Congenital Dyserythropoietic Anemia Type II: A Case Report. Cureus 2022;14(8):e27933.
3. Russo R, Gambale A, Langella C, Andolfo I, Unal S, Iolascon A. Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores. Am J Hematol 2014;89(10):E169–75.
4. Hassan MM, Mirza AA, Zaidi R, Malik M, Javaid M. Congenital Dyserythropoietic Anemia Type II: A Case Report. Cureus 2022;14(8):e27933.
5. Niss O, Lorsbach RB, Berger M, Chonat S, McLemore M, Buchbinder D, et al. Congenital dyserythropoietic anemia type I: first report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR). Blood Cells Mol Dis 2021;87:102534.
6. Heimpel H. Congenital dyserythropoietic anemias: epidemiology, clinical significance, and progress in understanding their pathogenesis. Ann Hematol 2004;83(10):613–21.
7. Hamada M, Doisaki S, Okuno Y, Muramatsu H, Hama A, Kawashima N, et al. Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia. Int J Hematol 2018;108(3):306–11.
8. Iolascon A, Esposito MR, Russo R. Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: From morphology to molecular approach. Haematologica 2012;97(12):1786–94.
9. Amir A, Dgany O, Krasnov T, Resnitzky P, Mor-Cohen R, Bennett M, et al. E109K is a SEC23B founder mutation among Israeli Moroccan Jewish patients with congenital dyserythropoietic anemia type II. Acta Haematol 2011;125(4):202–7.
10. Bianchi P, Fermo E, Vercellati C, Boschetti C, Barcellini W, Iurlo A, et al. Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. Hum Mutat 2009;30(9):1292–8.
11. Scott J, Chan G, Roy N, Ruskova A, Crosier K. Congenital dyserythropoietic anaemia: an unexpected diagnosis in an adult referred with elevated serum ferritin. Pathology 2016;48(5):503–6.
12. De Rosa G, Andolfo I, Marra R, Manna F, Rosato BE, Iolascon A, et al. RAP-011 rescues the disease phenotype in a cellular model of congenital dyserythropoietic anemia type II by inhibiting the SMAD2-3 pathway. Int J Mol Sci 2020;21(15):5577.
13. Sharma P, Das R, Bansal D, Trehan A. Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c. 1385 A→ G mutation, and pseudo-Gaucher cells in two siblings. Hematology 2015;20(2):104–7.
14. Rathe M, Møller MB, Greisen PW, Fisker N. Successful management of transfusion‐dependent congenital dyserythropoietic anemia type 1b with interferon alfa‐2a. Pediatr Blood Cancer 2018;65(3):e26866
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2024 Jawad Shafqat, Muhammad Usama Bin Shabbir, Sundus Ali, Sikandar Ajmal Abbasi, Abu Huraira, Muhammad Jazib Raza, Muhammad Safeerullah Khan
This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License.
Journal of Ayub Medical College, Abbottabad is an OPEN ACCESS JOURNAL which means that all content is FREELY available without charge to all users whether registered with the journal or not. The work published by J Ayub Med Coll Abbottabad is licensed and distributed under the creative commons License CC BY ND Attribution-NoDerivs. Material printed in this journal is OPEN to access, and are FREE for use in academic and research work with proper citation. J Ayub Med Coll Abbottabad accepts only original material for publication with the understanding that except for abstracts, no part of the data has been published or will be submitted for publication elsewhere before appearing in J Ayub Med Coll Abbottabad. The Editorial Board of J Ayub Med Coll Abbottabad makes every effort to ensure the accuracy and authenticity of material printed in J Ayub Med Coll Abbottabad. However, conclusions and statements expressed are views of the authors and do not reflect the opinion/policy of J Ayub Med Coll Abbottabad or the Editorial Board.
USERS are allowed to read, download, copy, distribute, print, search, or link to the full texts of the articles, or use them for any other lawful purpose, without asking prior permission from the publisher or the author. This is in accordance with the BOAI definition of open access.
AUTHORS retain the rights of free downloading/unlimited e-print of full text and sharing/disseminating the article without any restriction, by any means including twitter, scholarly collaboration networks such as ResearchGate, Academia.eu, and social media sites such as Twitter, LinkedIn, Google Scholar and any other professional or academic networking site.
