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Updated: Feb 19, 2026

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Anthropometric measurements in children having transfusion-dependent beta thalassemia
Bushra Moiz1, Aysha Habib1, Sobiya Sawani2
1a Department of Pathology and Laboratory Medicine , The Aga Khan University , Karachi , Pakistan.
Insights
Children with transfusion-dependent beta-thalassemia major in Pakistan experience stunted growth due to iron overload. Early iron chelation is crucial to prevent growth failure in these patients.
Area of Science:
- Pediatrics
- Hematology
- Endocrinology
Background:
- Transfusion-dependent beta-thalassemia major is a severe inherited blood disorder.
- Iron overload is a common complication of regular blood transfusions.
- Growth failure is a significant concern in children with beta-thalassemia major.
Purpose of the Study:
- To assess anthropometric measurements in Pakistani children with transfusion-dependent beta-thalassemia major.
- To investigate the correlation between serum ferritin levels and physical growth parameters.
Main Methods:
- A cohort of 367 children (5-17 years) with transfusion-dependent beta-thalassemia major was studied.
- Anthropometric measurements, serum ferritin, and pre-transfusion hemoglobin levels were recorded.
- Serum ferritin was correlated with height-for-age z-scores.
Main Results:
- Patients exhibited low mean pre-transfusion hemoglobin (7.66 g/dL) and high median serum ferritin (5012 ng/mL).
- The median height-for-age z-score was low (-2.69), with 65.4% of children showing stunting.
- A significant negative correlation was found between height-for-age z-score and serum ferritin levels (p < 0.000).
Conclusions:
- Children with beta-thalassemia major demonstrate delayed physical growth, likely due to iron overload.
- Stunting is prevalent and worsens with age.
- Effective and timely iron chelation therapy is essential to prevent growth failure.
Objectives:
The aim of this study was to determine the anthropometric measurements in transfusion-dependent β-thalassemia children in Pakistan. The secondary aim was to correlate serum ferritin with the physical growth.
Methods:
We enrolled 367 children (aged 5-17 years) with transfusion-dependent beta-thalassemia major in the study. Anthropometric measurements, serum ferritin levels, and pre-transfusion hemoglobin levels were measured. Serum ferritin was correlated with the height z-score for age.
Results:
Laboratory evaluation showed that patients had significantly low mean pre-transfusion hemoglobin of 7.66 ± 1.34 g/dl (range 2.5-10.5) and high median (Q3-Q1) serum ferritin of 5012 ng/ml (6829-3532). The median (Q3-Q1) height-for-age z-score of children was low at -2.69 and (-1.46 to -3.80) and 65.4% children had stunted growth (height for age z-score <-2). There was a significant negative correlation between height for age z-score and serum ferritin levels (p < 0.000). Stunting of growth began early during 5-10 years of age but increased markedly with the progress of time.
Conclusions:
The study showed that children with beta thalassemia major had delayed physical growth possibly secondary to iron overload. Effective and early iron chelation is needed for preventing growth failure in transfusion-dependent beta thalassemia.
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