α地中海贫血。哥斯达黎加一个家庭中α地中海贫血的病例报告。
Alpha-thalassemia. Case report alpha-thalassemia in a Costa Rican family, A case report.
作者信息
Solano-Vargas Mariela, Chui David H K, Rodriguez-Romero Walter
机构信息
Research Center of Hematology and Related Disorders (CIHATA) Universidad de Costa Rica San José Costa Rica.
Hemoglobin Diagnostic Reference Laboratory Boston Medical Center Boston MA USA.
出版信息
Clin Case Rep. 2020 Nov 29;9(1):291-293. doi: 10.1002/ccr3.3518. eCollection 2021 Jan.
Abstract
This case report highlights the importance for health care providers to be aware of the αlpha-thalassemia syndromes, their relevance to clinical care and family counseling, appropriate diagnostic algorithm for definitive diagnosis.
摘要
本病例报告强调了医疗保健提供者了解α地中海贫血综合征的重要性，它们与临床护理和家庭咨询的相关性，以及用于明确诊断的适当诊断算法。
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Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies.用于群体和序列变异研究的人类血红蛋白变异体和地中海贫血突变的HbVar数据库的改进。
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