Sickle-beta Thalassemia: A Rare Case Report in a Young Child

Abstract

Introduction: Sickle cell disease (SCD) results from a point mutation in the beta globin gene located on chromosome 11. The combination of inheriting a sickle cell allele from one parent and a beta thalassemia allele from the other parent leads to sickle cell-beta thalassemia, often exhibit a more severe type of SCD thus health issues.
Case: A female child, aged 2 years and 11 months, came in with fever, weakness, and decreased appetite, history of frequent infections. The patient’s hemoglobin level was 4.8 g/dL, mean corpuscular volume measured 65.7 fl. HPLC analysis revealed a peak in the S-window at 68.7%, along with an increase in Hb levels.
Conclusion: Timely diagnosis and treatment of patients with sickle-beta thalassemia can aid in minimizing complications.