TY - JOUR A2 - De Rosa, Maria C. AU - Pirastru, Monica AU - Manca, Laura AU - Trova, Sandro AU - Mereu, Paolo PY - 2017 DA - 2017/05/03 TI - Biochemical and Molecular Analysis of the Hb Lepore Boston Washington in a Syrian Homozygous Child SP - 1261972 VL - 2017 AB - 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. SN - 2314-6133 UR - https://doi.org/10.1155/2017/1261972 DO - 10.1155/2017/1261972 JF - BioMed Research International PB - Hindawi KW - ER -