Beyond Iron Deficiency: An Atypical Peripheral Smear Revealing Hemoglobin C in an Adolescent

超越缺铁:一例青少年非典型外周血涂片显示血红蛋白C

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Abstract

Hemoglobinopathies are among the most common inherited disorders worldwide and represent a significant public health concern. The clinical presentation varies depending on genetic status--heterozygous or homozygous--and may involve structural abnormalities, defects in hemoglobin synthesis, or both. Despite their prevalence, hemoglobinopathies remain underdiagnosed, particularly when masked by more common causes of anemia. We report a 14-year-old male adolescent with no significant past medical history, referred for evaluation of microcytic hypochromic anemia. The clinical examination revealed pallor and mild splenomegaly, while laboratory tests showed low serum ferritin, decreased folate levels, and mild hyperbilirubinemia. Peripheral blood smear demonstrated target cells, anulocytes, dacryocytes, and occasional crystal-like erythrocytes. Hemoglobin electrophoresis and high-performance liquid chromatography (HPLC) confirmed a heterozygous hemoglobin C (HbC), previously unrecognized in the patient and his family. This case highlights the importance of considering hemoglobinopathies in the differential diagnosis of microcytic hypochromic anemia, even when iron deficiency appears to be the most likely cause. It emphasizes the diagnostic value of peripheral blood smear, an investigation often overlooked in routine practice, which was crucial for identifying heterozygous HbC in this patient. Beyond the individual case, it underscores the need for systematic diagnostic approaches, genetic counseling, and family screening to reduce underdiagnosis and mitigate the public health impact of hemoglobinopathies.

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