Characterization of two unique α-globin gene cluster deletions causing α-thalassemia in Israeli Arabs

Oded Gilad, Orly Dgany, Sharon Noy-Lotan, Tania Krasnov, Sarah Elitzur, Serge Pissard, Iris Kventsel, Joanne Yacobovich, Hannah Tamary*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

The molecular basis of α-thalassemia (α-thal) is complex. The use of multiplex ligation-dependent probe amplification (MLPA) has offered the possibility of identifying more gene deletions causing α-thal. Our objective was to determine the molecular basis of two patients with Hb H (β4) disease. By using MLPA in combination with comparative genomic hybridization (CGH) we identified two novel α-globin gene cluster deletions: a 30kb deletion (patient 1) we refer to as - JAL and a large 216kb deletion (patient 2) we refer to as - LOD. Patient 1 was a compound heterozygote for - JAL and -α3.7 (rightward deletion). Twelve family members of patient 1 carrying the - JAL deletion were available for evaluation: five with - JAL/-α3.7, four with - JALHph Iα and three with - JAL/αα. Their clinical picture of compound heterozygosity was compatible with moderate Hb H disease. In patient 2 (- -LOD/-α3.7), no additional symptoms were present despite the heterozygous deletion of seven known genes, three non coding RNAs (ncRNAs), four unknown genes and two pseudo genes. Further analysis of more patients with α-thal deletions will have implications for genetic counseling and appropriate therapy.

Original languageEnglish
Pages (from-to)319-324
Number of pages6
JournalHemoglobin
Volume38
Issue number5
DOIs
StatePublished - 1 Oct 2014

Keywords

  • Deletion
  • α-Globin gene cluster
  • α-thalassemia (α-thal)

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