Suppr超能文献

由α地中海贫血和β地中海贫血相互作用导致的中度地中海贫血。

Thalassaemia of intermediate severity resulting from the interaction between alpha- and beta-thalassaemia.

作者信息

Musumeci S, Schilirò G, Pizzarelli G, Fischer A, Russo G

出版信息

J Med Genet. 1978 Dec;15(6):448-51. doi: 10.1136/jmg.15.6.448.

Abstract

A Sicilian family is described in which the alpha-thalassaemia gene is interacting in several members with beta-thalassaemia resulting in a balanced alpha/beta chain production ratio. In one patient, affected by homozygous beta-thalassaemia, the presence of alpha-thalassaemia resulted in a less severe clinical expression of the disease, less marked imbalance in the alpha/non-alpha ratio, and a lower level of HbF. Further studies of haemoglobin synthesis are needed to clarify the complex genetic picture that results from the interaction of different forms of thalassaemia.

摘要

描述了一个西西里家庭,其中α地中海贫血基因在几个成员中与β地中海贫血相互作用,导致α/β链产生比例平衡。在一名患有纯合β地中海贫血的患者中,α地中海贫血的存在导致疾病的临床表型较轻,α/非α比例的失衡不明显,且HbF水平较低。需要对血红蛋白合成进行进一步研究,以阐明由不同形式的地中海贫血相互作用所导致的复杂遗传情况。

相似文献

9
The triplicated alpha gene locus and beta thalassaemia.
Br J Haematol. 1983 Jun;54(2):201-7. doi: 10.1111/j.1365-2141.1983.tb02088.x.

本文引用的文献

2
A possible case of alpha-beta thalassaemia.一例可能的α-β地中海贫血病例。
Acta Genet Stat Med. 1962;12:202-8. doi: 10.1159/000151199.
4
Alpha-beta thalassemia disease in a Negro family.一个黑人家庭中的α-β地中海贫血病
N Engl J Med. 1966 Jul 28;275(4):176-81. doi: 10.1056/NEJM196607282750402.
6
Alpha- and beta-thalassemia in Thailand.泰国的α和β地中海贫血
Ann N Y Acad Sci. 1969 Nov 20;165(1):60-82. doi: 10.1111/j.1749-6632.1969.tb27777.x.
7
-thalassemia in the American Negro.美国黑人中的β地中海贫血
J Clin Invest. 1972 Feb;51(2):412-8. doi: 10.1172/JCI106827.
8
The clinical and biosynthetic characterization of -thalassaemia.β-地中海贫血的临床与生物合成特征
Br J Haematol. 1972 Apr;22(4):497-512. doi: 10.1111/j.1365-2141.1972.tb05695.x.

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验