Biochemical and Molecular Analysis of the Hb Lepore Boston Washington in a Syrian Homozygous Child

الملخص EN

Hemoglobin (Hb) Lepore is composed of two normal α chains and two δβ fusion globins that arise from unequal crossover events between the δ- and β-globin genes.

The Hb Lepore is widespread all over the world and in many ethnic groups.

It includes some of the few clinically significant Hb variants that are associated with a β-thalassemia phenotype.

Here, we describe the first occurrence of Hb Lepore Boston Washington in a Syrian individual.

The patient, a 10-year-old child, shows severe anemia with a Hb level of 6.85 g/dL and typical thalassemic red cell indices.

The diagnostic procedure implies hematological, biochemical, and molecular analysis, including multiplex ligation-dependent probe amplification (MLPA) assay, GAP-PCR, and DNA sequencing.

This latter allowed us to define the correct structure of the hybrid δβ-globin gene.

The knowledge of the spectrum of mutations associated with different geographical areas is the prerequisite to set up large-scale screening programs and be able to offer genetic counseling to couples at risk.