Novel 31.2 kb α⁰ Deletion in a Palestinian Family with α-Thalassemia

Abstract

A previously unknown α⁰ deletion, designated – –^DANE, was found in three generations of a Danish family of Palestinian origin. Six patients were heterozygous and three patients had deletional Hb H (β4) disease with a compound heterozygosity for the common −α^3.7 (rightward) deletion. Multiplex ligation-dependent probe amplification (MLPA) supplemented by repeated polymerase chain reaction (PCR) amplification identified the 5′ and 3′ breakpoints in the α-globin gene cluster. This novel 31.2 kb deletion (NG_000006.1: g.8800_40007del31208) leads to the removal of the HBZ, HBA2 and HBA1 genes.

• α-Globin gene cluster
• α-thalassemia (α-thal) deletion
• – –^DANE
• Hb H (β4)
• multiplex ligation-dependent probe amplification (MLPA)

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.