Beta-Thalassemia Intermedia in the First Affected Offspring of Carrier Parents: A Case Report and Literature Review

Purpose: To describe a case of β-thalassemia intermedia in the first affected offspring of two carrier parents, with emphasis on the interpretation of the automated complete blood count, and to review the literature on the pathophysiology, inheritance, and prevention of β-thalassemia. Methods: A single-patient case report combined with a narrative literature review (PubMed/MEDLINE, StatPearls, GeneReviews, Orphanet). The clinical history, three-generation family history, and a complete blood count obtained on a 5-part differential automated hematology analyzer were analyzed descriptively against reference ranges; absolute leukocyte subpopulation counts were calculated and the internal consistency of the red cell indices was verified. Results: A 22-year-old woman with β-thalassemia intermedia, transfused approximately once a year, was the first affected member of her family across three generations; both parents were identified as carriers despite normal routine blood counts. The complete blood count showed moderate anemia (Hb 8.8 g/dL, Hct 24.6%, RBC 3.15×10⁶/µL) with red cell indices within or at the limits of the reference range (MCV 78.3 fL, MCH 28 pg, MCHC 35.8 g/dL), marked anisocytosis (RDW-CV 26.9%), and thrombocytosis (610×10³/µL). The total leukocyte count was 73.92×10³/µL with 80.3% lymphocytes (absolute count 59.36×10³/µL). A peripheral blood smear and a nucleated red blood cell count were not available. Conclusion: The case illustrates classical autosomal recessive transmission of β-thalassemia from clinically silent carrier parents and supports carrier screening and family-wide genetic counseling. In transfused patients, near-normal red cell indices may reflect admixture of donor erythrocytes, and an extreme automated leukocyte count with apparent lymphocytosis must be verified by a peripheral smear with correction for nucleated red blood cells; if confirmed, it requires urgent hematological evaluation to exclude infection or a hematological malignancy.

Keywords: beta-thalassemia intermedia; autosomal recessive inheritance; carrier screening; genetic counseling; nucleated red blood cells; case report.