A Moderately Severe α-Thalassemia Condition Resulting From a Combination of the α2 Polyadenylation Signal (AATAAA→AATA– –) Mutation and a 3.7 Kb α Gene Deletion in an Australian Family

Abstract

We have recently studied a family with a rare combination of two abnormal α-globin genes. The combination of a two-base (AA) deletion in the α2 polyadenylation signal (poly A) (AATAAA→AATA– –) and a 3.7 kb α gene deletion, found in two children, resulted in a moderately severe thalassemic condition. Both parents and three siblings were tested and the hematological condition and molecular findings are presented. The father was born in India with Portuguese and British ancestry; the mother is of Dutch ancestry. All three siblings were born in Australia.

Keywords:

• α2 Polyadenylation signal (poly A)
• 3.7 kb a Gene deletion
• DNA sequencing
• Multiplex polymerase chain reaction (PCR) for common α-globin gene deletions