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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.

Hemoglobin
|January 4, 2019
PubMed

Insights

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.

Keywords:
Hb CHb D-Ibadanhemoglobinopathy

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