Detection of Anti-Lepore Hb P-Nilotic by Multiplex Ligation-Dependent Probe Amplification

Cui, Jialing; Azimi, Mahin; Adekile, Adekunle; Awadhi, Hanan Al; Hoppe, Carolyn

doi:10.3109/03630269.2012.660901

Cited by 8 publications

(1 citation statement)

References 9 publications

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“…Their detection is essential to differentiate the clinically severe form such as the homozygous state here described or δβ -thalassemia disorders from asymptomatic deletional conditions [23]. …”

Section: Discussionmentioning

confidence: 99%

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

Pirastru

Manca

Trova

et al. 2017

BioMed Research International

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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.

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Section: Discussionmentioning

confidence: 99%