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Compound Heterozygosity for Hb D-Ibadan (HBB: c.263C>A) and Hb C (HBB: c.19G>A)
Sirisha Kundrapu1, Nafiseh Janaki1, Howard J Meyerson1
1a Department of Pathology , University Hospitals Cleveland Medical Center and Case Western Reserve University , Cleveland , OH , USA.
A novel compound hemoglobinopathy involving Hb D-Ibadan and Hb C was identified during prenatal screening. This clinically silent condition presents with thalassemia minor-like red cell indices.
Area of Science:
- Hematology
- Genetics
- Molecular Biology
Background:
- Hemoglobinopathies are genetic disorders affecting hemoglobin synthesis.
- Compound heterozygosity for different variant hemoglobin genes can lead to complex clinical presentations.
- Prenatal screening plays a crucial role in identifying hemoglobin variants early in pregnancy.
Observation:
- A young woman was found to have compound heterozygosity for Hb D-Ibadan (HBB: c.263C>A) and Hb C (HBB: c.19G>A).
- This specific combination of variant hemoglobins (Hbs) had not been previously reported.
- Diagnostic techniques included high-performance liquid chromatography (HPLC), capillary electrophoresis (CE), and Sanger DNA sequencing.
Findings:
- Hb D-Ibadan was present in a significantly higher proportion (70.3%) compared to Hb C (24.4%).
- Complete blood count (CBC) revealed moderate microcytosis and slight anemia.
- The patient's clinical history indicated the compound hemoglobinopathy was asymptomatic.
Implications:
- This case expands the known spectrum of compound hemoglobinopathies.
- The observed red cell indices resemble those of thalassemia minor.
- Unequal distribution of variant Hbs in compound heterozygotes warrants further investigation and comparison with similar conditions.
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