在一个澳大利亚家庭中，由于α2聚腺苷酸化信号（AATAAA→AATA--）突变与3.7 kbα基因缺失共同作用导致的中度严重α地中海贫血病症。
A moderately severe alpha-thalassemia condition resulting from a combination of the alpha2 polyadenylation signal (AATAAA-->AATA- -) mutation and a 3.7 Kb alpha gene deletion in an Australian family.
作者信息
Prior John F, Lim Erna, Lingam Neela, Raven John L, Finlayson Jill
机构信息
Department of Haematology, PathWest Laboratory Medicine, Sir Charles Gairdner Hospital, Nedlands, Western Australia.
出版信息
Hemoglobin. 2007;31(2):173-7. doi: 10.1080/03630260701288997.
We have recently studied a family with a rare combination of two abnormal alpha-globin genes. The combination of a two-base (AA) deletion in the alpha2 polyadenylation signal (poly A) (AATAAA-->AATA- -) and a 3.7 kb alpha 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.
我们最近研究了一个家族，该家族有两个异常α-珠蛋白基因的罕见组合。在两个孩子中发现的α2聚腺苷酸化信号（poly A）中两个碱基（AA）缺失（AATAAA→AATA--）与3.7 kbα基因缺失的组合，导致了中度严重的地中海贫血症。对父母和三个兄弟姐妹都进行了检测，并呈现了血液学状况和分子检测结果。父亲出生于印度，有葡萄牙和英国血统；母亲是荷兰血统。三个兄弟姐妹均在澳大利亚出生。
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