Iranian journal of Pediatric Hematology and Oncology

en Cis and Trans Variants of α-Thalassemia Minor: “Hematological Differences and Distinction from Iron Deficiency Anemia هماتولوژی Hematology پژوهشي Research <div style="text-align: justify;">Background: Alpha thalassemia and iron deficiency anemia (IDA) are common hematological disorders characterized by microcytic red blood cells, complicating accurate diagnosis. This study investigates the genetic diversity and clinical presentation of alpha thalassemia, emphasizing the critical need for precise differential diagnosis between alpha thalassemia and IDA to ensure effective patient management and treatment. Materials and Methods: In this cross-sectional study, we conducted analysis of alpha thalassemia minor and IDA, focusing on hematological indices and clinical outcomes. Patients diagnosed with either condition from 2019 to 2023 were evaluated based on key parameters, including hemoglobin (Hb), red blood cell (RBC) count, mean corpuscular volume (MCV), and mean corpuscular hemoglobin (MCH). We also analyzed alpha thalassemia genotypes, distinguishing between cis and trans variants. This study uniquely explores hematological profiles in thalassemia minor patients. Results: Patients with cis-α-thalassemia exhibited lower MCV (68.14 ± 3.77 fL) compared to trans-α-thalassemia (72.15 ± 4.03 fL; p = 0.143). MCH was significantly lower in cis (20.58 ± 1.49 pg) than in trans (22.36 ± 1.43 pg; p = 0.013). Mean Hb was reduced in cis (12.10 ± 1.50 g/dL) relative to trans (12.46 ± 1.16 g/dL; p = 0.015), while RBC counts were higher in both alpha-thalassemia groups. Compared with IDA, alpha-thalassemia patients demonstrated significantly higher RBC counts (5.65 ± 0.44 vs. 4.30 ± 0.46 × 10¹²/L; p < 0.001) and Hb levels (12.37 ± 1.12 vs. 9.60 ± 1.12 g/dL; p < 0.001). Differences in MCV and MCH between thalassemia and IDA were not statistically significant. Conclusion: This finding highlights significant hematological differences between alpha thalassemia variants and IDA. By elucidating the distinct features of cis and trans alpha thalassemia genotypes, this study reinforces the necessity for precise diagnosis and tailored clinical management. Further research is warranted to explore the long-term clinical implications of these genetic variants.  </div> Anemia, Differential Diagnosis, Genetic Variation, Iron Deficiency, Thalassemia Minor 763 774 http://ijpho.ssu.ac.ir/browse.php?a_code=A-10-949-5&slc_lang=en&sid=1 Bijan Keikhaei Dehdezy Bijan Keikhaei Dehdezy keikhaeib@yahoo.com 0000-0002-3087-7650 No Thalassemia & Hemoglobinopathy Research center, Health research institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Thalassemia & Hemoglobinopathy Research center, Health research institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Ali Khodadadi Ali Khodadadi ali.khddd98@gmail.com 0009-0004-0559-9865 No Thalassemia & Hemoglobinopathy Research center, Health research institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Thalassemia & Hemoglobinopathy Research center, Health research institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Arta Farhadi Kia Arta Farhadi Kia shadowarta@gmail.com 0000-0001-5013-8196 No Medical Point Hospital, Izmir, Turkey Medical Point Hospital, Izmir, Turkey Atefeh Rezaei Atefeh Rezaei atefehrezaee1981@gmail.com 0000-0003-2499-5156 No Thalassemia & Hemoglobinopathy Research center, Health research institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Thalassemia & Hemoglobinopathy Research center, Health research institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Saeed Bitaraf Saeed Bitaraf drsbitaraf@yahoo.com 0000-0003-4688-9856 No Thalassemia & Hemoglobinopathy Research center, Health research institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Thalassemia & Hemoglobinopathy Research center, Health research institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Roya Salehi Kahyesh Roya Salehi Kahyesh royaarta@yahoo.com 0000-0002-7770-6169 Yes Thalassemia & Hemoglobinopathy Research center, Health research institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran Thalassemia & Hemoglobinopathy Research center, Health research institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran