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.

Biochemical and Molecular Analysis of the Hb Lepore Boston Washington in a Syrian Homozygous Child / Pirastru, Monica; Manca, Laura; Sandro, Trova; Mereu, Paolo. - In: BIOMED RESEARCH INTERNATIONAL. - ISSN 2314-6141. - 2017:(2017). [10.1155/2017/1261972]

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

PIRASTRU, Monica
;
MANCA, Laura;MEREU, Paolo
2017

Abstract

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.
Biochemical and Molecular Analysis of the Hb Lepore Boston Washington in a Syrian Homozygous Child / Pirastru, Monica; Manca, Laura; Sandro, Trova; Mereu, Paolo. - In: BIOMED RESEARCH INTERNATIONAL. - ISSN 2314-6141. - 2017:(2017). [10.1155/2017/1261972]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11388/175068
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