A Rare Case of T-cell Acute Lymphoblastic Leukemia in Paediatric Patient with Sickle Cell Trait

Abstract

Background: By definition, the HbS level is less than 50% among sickle cell trait carriers. Patients with sickle cell disease seldom develop hemato-oncological cancers. Adult hemato-oncological cancers with sickle cell characteristics are extremely rare. However, as far as we are aware, this is the first case report of pediatric sickle cell trait patients with acute T-cell lymphoblastic leukemia.
Clinical Description: An 11-year-old boy presented with a two-month history of fever, weight loss, and an enlarging left upper chest swelling. He had notable lymph node enlargement in the neck, armpits, and groin, but no enlargement of the liver or spleen.
Management and Outcome: The child had clinical signs of mild anemia and suspicion of malignancy. Laboratory tests showed a low hemoglobin level (9.1% gm) with a peripheral smear indicating microcytic hypochromic anemia, along with 22% blast cells. The sickling test was positive, confirming sickle cell heterozygosity. CXR imaging revealed mediastinal widening, and chest CT scan indicated soft tissue mass with chest wall infiltration, suggesting a probable lymphoma or thymoma. LDH levels were notably elevated (3089 IU/L). Fine-needle aspiration cytology (FNAC) and biopsy confirmed small round blue cell tumor, consistent with lymphoma. Cytochemistry and immunophenotypic analysis revealed T-cell Acute Lymphoblastic Leukemia (T-ALL). The child received treatment with IV Methotrexate, Folinic acid, 6-Mercaptopurine, and Cytarabine and responded positively.
Conclusion: This case highlights a rare and possibly under-recognized association between sickle cell trait and hematological malignancies, specifically T-cell Acute Lymphoblastic Leukemia. Given this finding, we recommend that patients diagnosed with hematological malignancies— particularly in regions with a high prevalence of hemoglobinopathies—should be routinely screened for sickle cell disease and sickle cell trait. Early identification of coexisting hemoglobinopathies may influence clinical management, risk stratification, and follow-up protocols. At the same time, further research is warranted to explore the prevalence and potential mechanisms linking sickle cell trait to malignancy. Patients with sickle cell disease should be screened for hematological malignancies.