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Case report and characterization of a Brazilian family with a rare hemoglobin variant-Hb Maputo.

作者信息

Santos Eliana Abreu, Carvalho Renato Sampaio, Wermelinger Luciana Serrão

机构信息

Faculdade de Farmácia da Universidade Federal do Rio de Janeiro (FF UFRJ), Rio de Janeiro, RJ, Brazil.

Faculdade de Farmácia da Universidade Federal do Rio de Janeiro (FF UFRJ), Rio de Janeiro, RJ, Brazil.

出版信息

Hematol Transfus Cell Ther. 2024 Nov;46 Suppl 5(Suppl 5):S289-S293. doi: 10.1016/j.htct.2024.02.025. Epub 2024 Apr 17.

DOI:10.1016/j.htct.2024.02.025
PMID:38658298
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11670565/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e4e9/11670565/d0bf384f07fd/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e4e9/11670565/d0bf384f07fd/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e4e9/11670565/d0bf384f07fd/gr1.jpg

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本文引用的文献

1
HbA mutation causing false-normal HbA1c results determined by HPLC in a patient with type 2 diabetes mellitus: A case report.2型糖尿病患者中导致高效液相色谱法测定的糖化血红蛋白（HbA1c）结果呈假正常的HbA突变：一例报告
Exp Ther Med. 2021 Aug;22(2):845. doi: 10.3892/etm.2021.10277. Epub 2021 Jun 7.
2
Prevalence of hemoglobinopathies in the Brazilian adult population: National Health Survey 2014-2015.巴西成年人群血红蛋白病患病率：2014 - 2015年全国健康调查
Rev Bras Epidemiol. 2019 Oct 7;22Suppl 02(Suppl 02):E190007.SUPL.2. doi: 10.1590/1980-549720190007.supl.2. eCollection 2019.
3
Distinctive mutation spectrum of the HBB gene in an urban eastern Indian population.
印度东部城市人群中HBB基因独特的突变谱。
Hemoglobin. 2014;38(1):33-8. doi: 10.3109/03630269.2013.837394. Epub 2013 Oct 7.
4
Clinical and molecular characterization of hemoglobin Maputo [beta 47 (CD6) Asp > Tyr HBB: c.142G > T] and G-Ferrara [beta 57 (E1) Asn > Lys HBB: c.174C > A] in a newborn screening in Brazil.
Int J Lab Hematol. 2013 Dec;35(6):e1-4. doi: 10.1111/ijlh.12043. Epub 2012 Dec 27.
5
Mutation analysis of the HBB gene in selected Bangladeshi beta-thalassemic individuals: presence of rare mutations.孟加拉国部分β地中海贫血患者HBB基因的突变分析：罕见突变的存在
Genet Test Mol Biomarkers. 2010 Jun;14(3):299-302. doi: 10.1089/gtmb.2009.0160.
6
The significance of the hemoglobin A(2) value in screening for hemoglobinopathies.血红蛋白 A（2）值在血红蛋白病筛查中的意义。
Clin Biochem. 2009 Dec;42(18):1786-96. doi: 10.1016/j.clinbiochem.2009.06.026. Epub 2009 Jul 8.
7
Hemoglobin Maputo: a new beta-chain variant (alpha 2 beta 2 47 (CD6) Asp replaced by Tyr) in combination with hemoglobin S, identified by high performance liquid chromatography (HPLC).
Hemoglobin. 1983;7(5):423-33. doi: 10.3109/03630268309038411.
8
Hb Luxembourg [alpha 24(B5)Tyr----His], Hb Maputo [beta 47(CD6)Asp----Tyr], and Hb Fukuyama [beta 77(EF1)His----Tyr].
Hemoglobin. 1991;15(1-2):97-101. doi: 10.3109/03630269109072488.