Alpha-Thalassemia Unmasked in a Patient With Sickle Cell Trait: A Case Report

TL;DR

A patient with sickle cell trait was found to also have alpha-thalassemia, explaining her persistent microcytic anemia and highlighting the need for accurate diagnosis.

Contribution

Highlights the importance of molecular testing in diagnosing co-inherited hemoglobinopathies to avoid misdiagnosis.

Findings

Coexistence of sickle cell trait and homozygous alpha-thalassemia explained the patient's microcytic anemia.

Molecular analysis confirmed the diagnosis and emphasized the need for tailored management in such cases.

Recognition of combined hemoglobinopathies is critical to prevent unnecessary treatments and guide counseling.

Abstract

Sickle cell trait is usually an asymptomatic, benign carrier state with mild or no anemia. We present the case of a 59-year-old female with sickle cell trait and mild persistent microcytic anemia. Iron studies were normal, and ferritin was elevated. Peripheral smear demonstrated microcytosis and occasional sickled cells. Given the marked microcytosis, molecular analysis was performed and confirmed homozygous alpha-thalassemia via gap-polymerase chain reaction. The coexistence of sickle cell trait and homozygous alpha-thalassemia accounted for the hematologic findings. Recognition of this genotype is critical to prevent misdiagnosis, avoid unnecessary iron supplementation, and guide appropriate genetic counseling and follow-up. Co-inheritance of hemoglobinopathies may present diagnostic challenges and require further investigation, particularly when laboratory results are inconsistent with expected phenotypes. In cases of unexplained microcytosis, especially in individuals with known hemoglobin variants, molecular testing for alpha-thalassemia should be considered to ensure accurate diagnosis and tailored management.

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