土耳其家庭中的Hb Andrew Minneapolis变体

IF 1.5 4区医学 Q3 HEMATOLOGY Turkish Journal of Hematology Pub Date : 2023-08-31 Epub Date: 2023-07-31 DOI:10.4274/tjh.galenos.2023.2023-0239

Hamza Sümter, Soycan Mızrak, Serdar Ceylaner, Duran Canatan

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Hb Andrew-Minneapolis Variant in a Turkish Family

There are a total of 1864 known structural hemoglobin (Hb) variants [1] and Hb Andrew-Minneapolis is a rare variant. Hb Andrew-Minneapolis is a beta-chain variant of hemoglobin, which is formed with the replacement of lysine at position 144 with asparagine (HGVS name: HBB:c.435G>C, beta 144(HC1) Lys>Asn), and it was first identified in 1973 by Zak et al. [2]. This variant is inherited in an autosomal dominant manner [2,3]. The first case in Türkiye was published by Aykut et al. [4]. Here we present the Hb Andrew-Minneapolis variant in two siblings whose parents were not alive.

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来源期刊

Turkish Journal of Hematology HEMATOLOGY-

CiteScore

2.90

自引率

3.80%

发文量

审稿时长

1 months

期刊介绍： The Turkish Journal of Hematology is published quarterly (March, June, September, and December) by the Turkish Society of Hematology. It is an independent, non-profit peer-reviewed international English-language periodical encompassing subjects relevant to hematology. The Editorial Board of The Turkish Journal of Hematology adheres to the principles of the World Association of Medical Editors (WAME), International Council of Medical Journal Editors (ICMJE), Committee on Publication Ethics (COPE), Consolidated Standards of Reporting Trials (CONSORT) and Strengthening the Reporting of Observational Studies in Epidemiology (STROBE). The aim of The Turkish Journal of Hematology is to publish original hematological research of the highest scientific quality and clinical relevance. Additionally, educational material, reviews on basic developments, editorial short notes, images in hematology, and letters from hematology specialists and clinicians covering their experience and comments on hematology and related medical fields as well as social subjects are published. As of December 2015, The Turkish Journal of Hematology does not accept case reports. Important new findings or data about interesting hematological cases may be submitted as a brief report.