Biochemical and Molecular Analysis of the Hb Lepore Boston Washington in a Syrian Homozygous Child
Joint Authors
Mereu, Paolo
Pirastru, Monica
Manca, Laura
Trova, Sandro
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-05-03
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract 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.
American Psychological Association (APA)
Pirastru, Monica& Manca, Laura& Trova, Sandro& Mereu, Paolo. 2017. Biochemical and Molecular Analysis of the Hb Lepore Boston Washington in a Syrian Homozygous Child. BioMed Research International،Vol. 2017, no. 2017, pp.1-6.
https://search.emarefa.net/detail/BIM-1133761
Modern Language Association (MLA)
Pirastru, Monica…[et al.]. Biochemical and Molecular Analysis of the Hb Lepore Boston Washington in a Syrian Homozygous Child. BioMed Research International No. 2017 (2017), pp.1-6.
https://search.emarefa.net/detail/BIM-1133761
American Medical Association (AMA)
Pirastru, Monica& Manca, Laura& Trova, Sandro& Mereu, Paolo. Biochemical and Molecular Analysis of the Hb Lepore Boston Washington in a Syrian Homozygous Child. BioMed Research International. 2017. Vol. 2017, no. 2017, pp.1-6.
https://search.emarefa.net/detail/BIM-1133761
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1133761