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 -