Cis and Trans Variants of α-Thalassemia Minor: “Hematological Differences and Distinction from Iron Deficiency Anemia

Bijan  Keikhaei Dehdezi; Ali  Khodadadi; Arta  Farhadi Kia; Atefeh  Rezaei; Saeed  Bitaraf; Roya Salehi  Kahyesh

doi:10.18502/ijpho.v16i1.20426

Bijan Keikhaei Dehdezi Thalassemia & Hemoglobinopathy Research center, Health research institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
Ali Khodadadi Thalassemia & Hemoglobinopathy Research center, Health research institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
Arta Farhadi Kia Medical Point Hospital, Izmir, Turkey
Atefeh Rezaei Thalassemia & Hemoglobinopathy Research center, Health research institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
Saeed Bitaraf Thalassemia & Hemoglobinopathy Research center, Health research institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
Roya Salehi Kahyesh Thalassemia & Hemoglobinopathy Research center, Health research institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran

DOI: https://doi.org/10.18502/ijpho.v16i1.20426

Keywords: Anemia, Differential Diagnosis, Genetic Variation, Iron Deficiency, Thalassemia Minor

Abstract

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.