A moderately severe alpha-thalassemia condition resulting from a combination of the alpha 2 polyadenylation signal (AATAAA -> AATA- -) mutation and A 3.7 KB alpha gene deletion in an Australian family

作者：Prior John F^*; Lim Erna; Lingam Neela; Raven John L; Finlayson Jill

来源：Hemoglobin, 2007, 31(2): 173-177.

DOI：10.1080/03630260701288997

We have recently studied a family with a rare combination of two abnormal a-globin genes. The combination of a two-base (AA) deletion in the alpha 2 polyadenylation signal (poly A) (AATAAA -> ATA- -) and a 3.7 kb a 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.

• 出版日期2007