4. BETA-THALASSEMIA INTERMEDIA IN THE FIRST AFFECTED OFFSPRING OF CARRIER PARENTS: A CASE REPORT AND LITERATURE REVIEW

BETA-THALASSEMIA INTERMEDIA IN THE FIRST AFFECTED OFFSPRING OF
CARRIER PARENTS: A CASE REPORT AND LITERATURE REVIEW

Aakash Kumar1, A.S. Aaliev2 B.B.Kulambaev3
Asian International University named after Satkynbai Tentishev,
1Student scientific society, 2Teaching and Research Laboratory,
3Department of Therapeutic and Specialized Disciplines
Kant, Kyrgyzstan

ABSTRACT
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.