两名β地中海贫血携带者中因α珠蛋白基因等位基因六重复而导致的中度至重度中间型β地中海贫血表型。 - Suppr | 超能文献

Moderate-severe beta-thalassemia intermedia phenotype caused by sextuplicated alpha-globin gene allele in two beta-thalassemia carriers.

作者信息

Achour Ahlem, Knijnenburg Jeroen, Koopmann Tamara, Raz Amir, Tischkowitz Marc, Coates Thomas D, Baas F, Harteveld C L

机构信息

Department of clinical genetics/LDGA, Leiden University Medical Centre, Leiden, The Netherlands.

Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia.

出版信息

Am J Hematol. 2024 Aug;99(8):1655-1658. doi: 10.1002/ajh.27386. Epub 2024 May 30.

DOI:10.1002/ajh.27386

Abstract

摘要

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