Differential Diagnosis of Microcytic and Hypochromic Anemia
https://doi.org/10.22448/AMJ.2025.2.36-44
EDN: XENCLT
Abstract
Iron deficiency anemia (IDA) accounts for more than 90% of all microcytic and hypochromic anemias. However, a number of rare anemias may masquerade as IDA, leading to diagnostic pitfalls. This article presents clinical cases in which beta-thalassemia minor was initially misdiagnosed as IDA, along with a concise literature review on microcytic and hypochromic anemias.
Results: In the two reported cases, serum iron metabolism markers were not adequately assessed early in the diagnostic process. This oversight resulted in prolonged, unwarranted iron supplementation and subsequent iron overload—particularly severe in the second case, where serum ferritin reached 2000 μg/L. Only after identifying markedly elevated ferritin levels was a targeted diagnostic workup initiated, ultimately confirming the diagnosis of beta-thalassemia minor.
Conclusion: The diagnosis of IDA must be based not only on complete blood count findings but also on serum iron metabolism parameters (e.g., ferritin, serum iron, transferrin saturation). Failure to do so may obscure rarer underlying causes of microcytic hypochromic anemia. Clinicians should bear in mind that thalassemia can occur even in individuals of Russian ethnicity.
About the Authors
V. V. VoitsekhovskyRussian Federation
Valery V. Voitsekhovsky
Blagoveshchensk
Dz. A. Orazliev
Russian Federation
Dzhumamyrat A. Orazliev
Blagoveshchensk
S. V. Ishchenko
Russian Federation
Sergey V. Ishchenko
Blagoveshchensk
Yu. A. Kornilovich
Russian Federation
Yulia A. Kornilovich
Blagoveshchensk
V. R. Shelestova
Russian Federation
Valeria R. Shelestova
Blagoveshchensk
E. I. Belyaeva
Russian Federation
Ekaterina I. Belyaeva
Blagoveshchensk
K. Zh. Saidova
Russian Federation
Kamila Zh. Saidova
Blagoveshchensk
Yu. N. Glyzina
Russian Federation
Yulia N. Glyzina
Blagoveshchensk
References
1. Idelson L.I., Vorobyev P.A. Iron deficiency anemia. Guide to Hematology / Edited by A.I. Vorobyov. 3rd ed., revised and add. Moscow: Newdiamed, 2003. Vol. 3. P. 171–190. (In Russ.)
2. Wojciechowski V.V., Khaustov A.F., Pivnik A.V. Tumors of the small intestine as a cause of chronic iron deficiency anemia. Therapeutic Archive. 2011; 83 (10): 11–18.
3. Clinical recommendations “Iron deficiency anemia”. 2024–2025–2026. Approved by the Russian Ministry of Health. 36 p. (In Russ.)
4. Valitova A.D., Kadyrova Z.M., Oslopov V.N., et al. Anemia of chronic diseases: a verdict or a protective reaction of the body? Kazan Medical Journal. 2023; 104 (3): 393–401. DOI: https://doi.org/10.17816/KMJ114869
5. Mironova O.Yu., Panferov A.S. Anemia of chronic diseases: current state of the problem and prospects. Therapeutic Archive. 2022; 94 (12): 1349–1354. DOI: https://doi.org/10.26442/00403660.2022.12.201 984 (In Russ.)
6. Ducamp S., Fleming M.D. The molecular genetics of sideroblastic anemia. Blood. 2019; 133 (1): 59–69. DOI: https://doi.org/10.1182/blood-2018-08-815951
7. Fenaux P., Platzbecker U., Mufti G.J., et al. Luspatercept in patients with lower-risk myelodysplastic syndromes. New England Journal of Medicine. 2020; 382 (2): 140–151. DOI: https://doi.org/10.1056/NEJMoa1908892
8. Platzbecker U., Della Porta M.G., Santini V., et al. Efficacy and safety of luspatercept versus epoetin alfa in erythropoiesis-stimulating agent-naive, transfusion-dependent, lower-risk myelodysplastic syndromes (COMMANDS): interim analysis of a phase 3, open-label, randomised controlled trial. Lancet. 2023; 402 (10399): 373–385. DOI: https://doi.org/10.1016/S0140-6736(23)00874-7
9. Hemoglobinopathies and thalassemic syndromes. Edited by A.G. Rumyantsev, Yu.N. Tokarev, N.S. Smetanina. Moscow: Practical Medicine, 2015. 448 р. ISBN: 978-5-98811-278-5 (In Russ.)
10. Cappelini M.D., Cohen A., Porter J., et al. Guidelines for the Management of Тransfusion Dependent Thalassemia. Thalassemia International Federation. 2014. [Internet]
11. Taher A., Vichinsky E., Musallan K., et al. Guidelines for the Management of non Тransfusion Dependent Thalassemia (NTDT). Thalassemia International Federation. 2013. [Internet]
12. Alimirzoeva Z.H., Gasanova M.B., Shirinova A.G., Asadov Ch.D. Modern principles of treatment of intermediate thalassemia (literature review). Bulletin of the Russian Blood Service. 2016; 1: 48–54.
13. Smetanina N.S. Thalassemia. All-Russian Society of Orphan Diseases. 19 p. (In Russ.)
14. Demidova E.Yu., Selivanova D.S., Salomashkina V.V., et al. Epidemiology of beta-thalassemia in Russia. Hematology and Transfusiology. 2022; 67 (2): 104.
15. Gumilev L.N. From Rus to Russia: essays on ethnic history. Moscow: Academic project, 2025. 300 p. ISBN: 978-5-8291-4328-2 (In Russ.)
16. Lokhmatova M.E., Smetanina N.S., Finogenova N.A. Epidemiology of hemoglobinopathies in Moscow. Pediatrics. 2009; 87 (4): 46–50.
17. Khachaturian A.G., Nazarov V.D., Dubina I.A., et al. The relevance of beta-thalassemia molecular-genetic diagnostics in Russian Federation. Russian Journal of Pediatric Hematology and Oncology. 2024; 11 (4): 89–97. DOI: https://doi.org/10.21682/2311-1267-2024-11-4-89-97
Review
For citations:
Voitsekhovsky V.V., Orazliev D.A., Ishchenko S.V., Kornilovich Yu.A., Shelestova V.R., Belyaeva E.I., Saidova K.Zh., Glyzina Yu.N. Differential Diagnosis of Microcytic and Hypochromic Anemia. Amur Medical Journal. 2025;13(2):36-44. (In Russ.) https://doi.org/10.22448/AMJ.2025.2.36-44. EDN: XENCLT
JATS XML



