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

Biomed Res Int. 2017:2017:1261972. doi: 10.1155/2017/1261972. Epub 2017 May 3.

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.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Hemoglobins, Abnormal* / chemistry
  • Hemoglobins, Abnormal* / genetics
  • Hemoglobins, Abnormal* / metabolism
  • Homozygote*
  • Humans
  • Syria
  • beta-Thalassemia* / genetics
  • beta-Thalassemia* / metabolism

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Lepore