Publication:

Haematological abnormalities in transfusion dependent thalassemia patients: an observational study

Background Thalassemia is a common inherited hemoglobinopathy, with transfusion-dependent thalassemia (TDT) representing the most severe phenotype. Despite advances in transfusion and chelation therapy, patients remain at risk of hematological derangements arising from ineffective erythropoiesis, chronic anemia, and iron overload. Comprehensive evaluation of hematological indices in this population is essential for assessing transfusion adequacy and predicting complications. Objectives were to evaluate hematological abnormalities in transfusion-dependent thalassemia patients and to assess correlations between hematological indices and serum ferritin levels.

Methods This hospital-based observational cross-sectional study was conducted in the departments of pediatrics and pathology, GMERS Medical College, Junagadh, over five months. A total of 43 children and adolescents with TDT, on regular transfusion for at least one year, were enrolled through universal sampling. Venous blood was collected prior to transfusion and analyzed using an automated hematology analyzer for hemoglobin (Hb), hematocrit (HCT), red blood cell (RBC) count, mean corpuscular indices (MCV, MCH, MCHC), red cell distribution width (RDW), total leukocyte count (TLC), and platelet count. Serum ferritin was measured using a fully automated biochemistry analyzer. Data were analyzed with SPSS v20; continuous variables were expressed as mean±SD, and correlations with ferritin were assessed by Pearson’s coefficient.

Results Patients had persistent moderate anemia with mean hemoglobin 7.48±1.24 gm/dl and hematocrit 22.53±4.21%. RBC counts averaged 2.93±0.51 ×10⁶/µl, with microcytosis (MCV 76.83±5.32 fl), low MCH (24.91±2.90 pg), and relatively preserved MCHC (32.39±3.01 gm/dl). RDW was markedly raised (18.68±4.33%). TLC showed wide variability (11,418.60±8,351.91/µl), and thrombocytosis was frequent (platelets 445,667±210,270/µl). Serum ferritin was markedly elevated (4,236.32±3,248.98 ng/ml). Correlations between ferritin and Hb, HCT, MCH, and platelets were negligible or weak and statistically non-significant (p>0.05).

Conclusions Transfusion-dependent thalassemia patients exhibited persistent anemia, microcytosis, hypochromia, anisocytosis, and frequent thrombocytosis despite regular transfusions. Serum ferritin levels, although elevated, showed poor correlation with hematological indices, underscoring their independent role as markers of iron overload rather than hematologic status. Continuous monitoring of complete blood counts alongside ferritin remains crucial for guiding management and preventing complications.