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Hemoglobin Agenogi is a rare beta-globin variant causing mild anemia. This case highlights a child with both Hemoglobin Agenogi and beta-thalassemia trait, emphasizing the importance of family studies for accurate diagnosis.

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Area of Science:

  • Hematology
  • Genetics
  • Molecular Biology

Background:

  • Hemoglobin (Hb) Agenogi is a rare, asymptomatic beta-globin chain variant.
  • It is characterized by a specific amino acid substitution (glutamic acid to lysine at position 90) and elutes in the C-window on HPLC.
  • Diagnosis of rare hemoglobinopathies often requires comprehensive hematological and genetic analysis.

Observation:

  • A 10-year-old male presented with symptoms of anemia, including fatigue, lethargy, pallor, and mild splenomegaly.
  • Hematological parameters indicated microcytic hypochromic anemia and a slightly elevated red blood cell count, consistent with thalassemia trait.
  • High-performance liquid chromatography (HPLC) revealed a significant peak in the C-window (82.6%) and elevated HbA2 levels (9.3%).

Findings:

  • Family studies were crucial for diagnosis.
  • The father exhibited findings consistent with beta-thalassemia trait.
  • The mother and brother showed HPLC patterns and elevated HbA2 levels indicative of Hb Agenogi.
  • DNA sequencing confirmed beta-thalassemia trait in the father and heterozygous Hb Agenogi mutation in the mother and brother.
  • The proband was found to be coinherit both beta-thalassemia trait and Hb Agenogi mutations.

Implications:

  • This case underscores the diagnostic challenges posed by coinherited hemoglobin variants.
  • Accurate diagnosis of compound heterozygosity for Hb Agenogi and beta-thalassemia trait is essential for genetic counseling and management.
  • Comprehensive family screening is vital for identifying individuals with rare hemoglobin variants and understanding inheritance patterns.