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Background: Hemoglobin D-Ouled Rabah is a rare β-chain variant [β19(B1)Asn>Lys], mainly found in Tuareg tribes of Algeria and Mali. This paper reports the first documented heterozygous case in Morocco, confirmed by genetic analysis.
Methods: A hemoglobin variant was incidentally discovered in a 53-year-old patient during hemoglobin A1c measurement using high-performance liquid chromatography, where it was initially identified as hemoglobin E. However, subsequent capillary electrophoresis identified it as hemoglobin D. Due to this discrepancy, a genotypic analysis was performed.
Results: DNA sequencing subsequently confirmed the hemoglobin D-Ouled Rabah variant by detecting a nucleotide substitution at position 60, where cytosine is replaced by adenine, resulting in a protein alteration with asparagine being substituted by lysine at position 20.
Conclusions: This case underscores the importance of enhancing genetic screening and monitoring programs in Morocco to gain deeper insights into the epidemiology of rare hemoglobinopathies and their public health impications.
DOI: 10.7754/Clin.Lab.2025.250350
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