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Clinical and Laboratory Features of Hemoglobin La Desirade Variant in Association with Sickle Cell and Alpha Thalassemia Genes.

作者信息

Alkindi S, Al Zadjali S, Al Rawahi M, Al Haddabi H, Daar S, ElSadek R A, Sherkawy B D, Pathare A V

机构信息

Department of Haematology, Sultan Qaboos University Hospital.

College of Medicine & Health Sciences, Muscat, Oman.

出版信息

Mediterr J Hematol Infect Dis. 2021 Jan 1;13(1):e2021010. doi: 10.4084/MJHID.2021.010. eCollection 2021.

DOI:10.4084/MJHID.2021.010
PMID:33489049
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7813281/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/962c/7813281/f1c1af29d97f/mjhid-13-1-e2021010f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/962c/7813281/1e36d6538207/mjhid-13-1-e2021010f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/962c/7813281/8f4bcd35b456/mjhid-13-1-e2021010f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/962c/7813281/f1c1af29d97f/mjhid-13-1-e2021010f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/962c/7813281/1e36d6538207/mjhid-13-1-e2021010f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/962c/7813281/8f4bcd35b456/mjhid-13-1-e2021010f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/962c/7813281/f1c1af29d97f/mjhid-13-1-e2021010f3.jpg

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本文引用的文献

1
Low oxygen saturation and severe anemia in compound heterozygous Hb Louisville [β42(CD1)Phe→Leu] and Hb La Desirade [β129(H7)Ala→Val].
Hematology. 2017 Mar;22(2):114-118. doi: 10.1080/10245332.2016.1231989. Epub 2016 Sep 27.
2
Broader spectrum of β-thalassemia mutations in Oman: regional distribution and comparison with neighboring countries.阿曼β地中海贫血突变的更广泛谱系：区域分布及与邻国的比较。
Hemoglobin. 2015;39(2):107-10. doi: 10.3109/03630269.2015.1009632. Epub 2015 Feb 13.
3
Reappraisal of known malaria resistance loci in a large multicenter study.在一项大型多中心研究中对已知疟疾抗性基因座的重新评估。
Nat Genet. 2014 Nov;46(11):1197-204. doi: 10.1038/ng.3107. Epub 2014 Sep 28.
4
Homozygous Southeast Asian ovalocytosis is a severe dyserythropoietic anemia associated with distal renal tubular acidosis.纯合子东南亚椭圆形红细胞增多症是一种与远端肾小管酸中毒相关的严重红细胞生成异常性贫血。
Blood. 2014 Mar 20;123(12):1963-5. doi: 10.1182/blood-2014-01-548149.
5
A stepwise α-thalassemia screening strategy in high-prevalence areas.在高发地区采用逐步的α-地中海贫血筛查策略。
Eur J Haematol. 2013 Aug;91(2):164-9. doi: 10.1111/ejh.12136. Epub 2013 Jun 15.
6
The β-globin promoter -71 C>T mutation is a β+ thalassemic allele.β-珠蛋白启动子-71C>T 突变是β+地中海贫血等位基因。
Eur J Haematol. 2011 Nov;87(5):457-60. doi: 10.1111/j.1600-0609.2011.01687.x. Epub 2011 Sep 15.
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Forecasting hemoglobinopathy burden through neonatal screening in Omani neonates.通过对阿曼新生儿进行新生儿筛查预测血红蛋白病负担。
Hemoglobin. 2010 Jan;34(2):135-44. doi: 10.3109/03630261003677213.
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Influence of iron deficiency anaemia on haemoglobin A2 levels: possible consequences for beta-thalassaemia screening.缺铁性贫血对血红蛋白A2水平的影响：对β地中海贫血筛查的可能后果。
Scand J Clin Lab Invest. 1999 Feb;59(1):65-70. doi: 10.1080/00365519950186011.
9
Hemoglobin La Desirade alpha A2 beta 2 129 (H7) Ala----Val: a new unstable hemoglobin.
Hemoglobin. 1986;10(6):593-605. doi: 10.3109/03630268609036564.