Aplastic anemia and thalassemia are two distinct hematological disorders that are rarely seen in combination. This report describes the case of a 7-year-old boy initially diagnosed with aplastic anemia based on clinical and bone marrow findings, who was later found to have coexistent beta-thalassemia intermedia. The patient presented with chronic pallor, fatigue, gum bleeding, and growth retardation, along with persistent thrombocytopenia since age two. Despite multiple platelet transfusions, steroids, and splenectomy, there was no sustained improvement. Subsequent marrow biopsy confirmed aplastic anemia, and treatment with oxymetholone and cyclosporine was initiated. Persistent anemia led to hemoglobin electrophoresis, revealing elevated HbF (24.3%) and confirming beta-thalassemia intermedia. After treatment with thalidomide and hydroxyurea, his transfusion requirements markedly decreased, with the last transfusion in March 2024. This case underscores the diagnostic complexity of overlapping hematologic disorders, particularly in regions with high thalassemia prevalence. Early utilization of hemoglobin electrophoresis in unexplained or refractory cytopenias can help avoid misdiagnosis and guide timely, effective treatment.

Aplastic anemia, Beta-thalassemia intermedia, Hematology, Misdiagnosis, Bone marrow failure, Thalidomide, Hydroxyurea.

Aplastic anemia is a rare bone marrow failure syndrome characterized by pancytopenia and hypocellular marrow, with an incidence of 1.5–2.3 per million in Europe and 3.0–7.5 per million in Asia.[1-8] Causes include idiopathic, autoimmune, and environmental factors. Beta-thalassemia, a hereditary hemoglobinopathy due to reduced beta-globin synthesis, ranges from severe transfusion-dependent to mild intermediate forms.[9-12] While both conditions have well-defined presentations, their coexistence is exceptionally rare and poses diagnostic challenges.[13-15] This report highlights such a case in a pediatric patient, emphasizing diagnostic pitfalls and the role of comprehensive hematologic evaluation.

A 7-year-old boy from Charsadda, KPK, presented with progressive pallor, fatigue, joint pain, gum bleeding, and growth retardation. He had thrombocytopenia since age two and required recurrent platelet transfusions without improvement. Initial laboratory investigations (16/12/2016) showed hemoglobin 9.8 g/dL, platelet count 27,000 per cubic millimeter, and total leukocyte count (TLC) 8,300 per cubic millimeter. Bone marrow biopsy in 2018 showed normal cellularity with peripheral platelet destruction. The patient received corticosteroids and underwent splenectomy, but symptoms persisted.

A repeat bone marrow biopsy in 2020 demonstrated hypocellularity, confirming aplastic anemia.[9] He started on oxymetholone and cyclosporine; however, transfusion dependency continued. Hemoglobin electrophoresis revealed hemoglobin A (HbA) 74.2%, hemoglobin A2 (HbA₂) 1.3%, and fetal hemoglobin (HbF) 24.3%, consistent with beta-thalassemia intermedia. Thalidomide and hydroxyurea were added, leading to clinical improvement and decreased transfusion frequency. His last transfusion occurred on 04/03/2024, marking substantial disease stabilization.

This case demonstrates the rare coexistence of aplastic anemia and beta-thalassemia intermedia. The initial presentation of thrombocytopenia and non-responsiveness to platelet transfusion led to a bone marrow biopsy, which was misleading due to preserved cellularity and suggested peripheral destruction.

The coexistence of aplastic anemia and beta-thalassemia intermedia is rare and diagnostically challenging. In this case, the initial bone marrow findings and clinical presentation favored aplastic anemia, delaying recognition of the underlying hemoglobinopathy. Persistent anemia despite immunosuppressive therapy warranted further evaluation, and hemoglobin electrophoresis provided the key to diagnosis.[13-17] Similar cases have been reported in the literature, underscoring the importance of considering dual pathology in atypical presentations.[18] Studies demonstrate that agents like hydroxyurea and thalidomide increase fetal hemoglobin, improving erythropoiesis and reducing transfusion requirements.[16–18]. This therapeutic response supports the benefit of early hemoglobin analysis in persistent cytopenias or refractory bone marrow failure. Clinicians, especially in regions with a high prevalence of thalassemia, should maintain a high index of suspicion to avoid misdiagnosis.

This case emphasizes the need for a comprehensive diagnostic approach in pediatric cytopenias. When bone marrow failure syndromes fail to respond to standard treatment, hemoglobinopathies such as thalassemia intermedia should be considered. Early hemoglobin electrophoresis can lead to prompt, targeted management and better outcomes.

Not reported

This research received no external funding.

Corresponding Author:
Safeena Khan
Department of Medicine
Khyber Medical College, Peshawar, Pakistan
Email: safeenakhan00@gmail.com

Co-Authors:
Sudais Fazal, Abdullah Rahat, Farhan Riaz
Department of Medicine
Pak International Medical College, Peshawar, Pakistan

Abdul Rehman
Department of Medicine
Jinnah Medical College, Peshawar, Pakistan

Safeena Khan was responsible for patient management, case data collection, and drafting the primary version of the manuscript. Sudais Fazal conducted the literature review, prepared the discussion, and contributed to editing the manuscript. Abdullah Rahat assisted in patient management, contributed to case analysis, and helped with data interpretation. Farhan Riaz provided a critical review of the manuscript, offered intellectual input, and supervised the work. Abdul Rehman gave the final approval of the manuscript and provided overall supervision. All authors have read and approved the final manuscript.

Verbally informed consent was obtained from the patient for publication of this case report and any accompanying images. The patient was informed that all personal identifiers would be removed to ensure anonymity, and they agreed to the publication. Documentation of this verbal consent has been recorded in the patient’s medical file.

The authors declare no conflict of interest.

Sudais Fazal is the guarantor of this work and accepts full responsibility for the integrity of the content and the decision to publish.

https://doi.org/10.63096/medtigo3062344

Fazal S, Rahat A, Riaz F, Khan S, Rehman A.  Beta-Thalassemia Intermedia in Disguise: A Case of Delayed Diagnosis in a Child with Persistent Cytopenias. medtigo J Med. 2025;3(4):e3062344. doi:10.63096/medtigo3062344 Crossref