Medical Case Reports

Hemoglobinosis D-Punjab in a Moroccan Family

Background: Hemoglobinosis D, also called Hemoglobinosis Los Angeles or Punjab, is a structural variant derived from a point mutation of the beta-globin (HBB) gene in the first base of codon 121 (GAA → CAA) with the substitution of glutamine for glutamic acid (Glu> Gln) in the beta globin chain. It’s transmitted in autosomal recessive mode and occurs in different forms including heterozygous hbD trait.

Hemoglobinosis D is widespread worldwide, with dominance in the Punjab region of the northwest of India, unlike Morocco where it’s still very rare and poorly studied.

Case Report

We describe the first case of heterozygous HbD-Punjab in a Moroccan family, discovered following microcytic hypochromic anemia in a 6 years old child.

Conclusion

This case highlights the possibility of the appearance of rare phenotypes within our multiethnic population, and emphasizes the importance of precise genetic studies to plan genetic counseling and allow effective patient management before the onset of any complications.

Author(s):

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