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[Hemoglobinopathies and patients with foreign names]
Kristin Lilleholt1, Marit H Hallberg, Tor-Arne Hagve
1Avdeling for medisinsk biokjemi, Rikshospitalet, 0027 Oslo.
Summary
Low mean corpuscular volume (MCV) effectively screens for haemoglobinopathies in individuals with foreign ethnic backgrounds in Norway. This diagnostic approach aids in identifying conditions like beta-thalassemia minor.
Area of Science:
- Hematology
- Medical Diagnostics
- Genetic Medicine
Context:
- Increasing immigration to Norway necessitates improved diagnosis of haemoglobinopathies.
- Haemoglobinopathies are prevalent in many immigrant-sending countries.
- Previous diagnostic methods lacked specific focus on this demographic.
Purpose:
- To investigate the correlation between mean corpuscular volume (MCV) and diagnosed haemoglobinopathies in Norway.
- To assess the utility of low MCV as a screening tool for haemoglobinopathies in diverse populations.
Summary:
- A three-year study analyzed 263 samples with low MCV (<70 fl) using high-pressure liquid chromatography.
- 18% of samples revealed haemoglobinopathy variants, predominantly beta-thalassemia minor.
- 35% of individuals with low MCV and African/Asian ethnicity had heterozygous haemoglobinopathies.
Impact:
- Low MCV is a valuable initial diagnostic step for haemoglobinopathies in patients of foreign ethnic origin.
- This finding supports targeted screening strategies in Norway's evolving population.
- Early identification of haemoglobinopathies can lead to timely management and genetic counseling.