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LETTERS TO THE EDITORTurk J Hematol 2021;38:155-174problems; however, ethical problems in screening programs canbe reduced if they are only used for training and informationpurposes, instead of being used to prevent people from carryingout certain activities.Under the current conditions, screening programs, at leastduring prenatal genetic counseling prior to marriage, shouldgive HbS carriers the opportunity to receive information fromfirst-degree healthcare professionals and hematologists aboutSCT complications and prevention.Keywords: Sickle cell trait, Splenic infarct, ComplicationAnahtar Sözcükler: Orak hücre taşıyıcılığı, Dalak infarktı,KomplikasyonEthicsInformed Consent: Obtained.Authorship ContributionsSurgical and Medical Practices: M.Y.; Concept: C.B.; Design: C.B.;Data Collection or Processing: M.Y.; Analysis or Interpretation:M.Y.; Literature Search: M.Y., C.B.; Writing: M.Y.Conflict of Interest: No conflict of interest was declared by theauthors.Financial Disclosure: The authors declared that this studyreceived no financial support.References1. Karacaoglu PK, Asma S, Korur A, Solmaz S, Buyukkurt NT, Gereklioglu C,Kasar M, Ozbalcı D, Unal S, Kaya H, Gurkan E, Yeral M, Sariturk Ç, BogaC, Ozdogu H. East Mediterranean region sickle cell disease mortality trial:retrospective multicenter cohort analysis of 735 patients. Ann Hematol2016;95:993-1000.2. Goodman J, Hassell K, Irwin D, Witkowski EH, Nuss R. The splenic syndromein individuals with sickle cell trait. High Alt Med Biol 2014;15:468-471.3. Naik RP, Smith-Whitley K, Hassell KL, Umeh NI, de Montalembert M, SahotaP, Haywood C Jr, Jenkins J, Lloyd-Puryear MA, Joiner CH, Bonham VL, KatoGJ. Clinical outcomes associated with sickle cell trait: a systematic review.Ann Intern Med 2018;169:619-627.4. Naik RP, Derebail VK, Grams ME, Franceschini N, Auer PL, Peloso GM, YoungBA, Lettre G, Peralta CA, Katz R, Hyacinth HI, Quarells RC, Grove ML, BickAG, Fontanillas P, Rich SS, Smith JD, Boerwinkle E, Rosamond WD, Ito K,Lanzkron S, Coresh J, Correa A, Sarto GE, Key NS, Jacobs DR, KathiresanS, Bibbins-Domingo K, Kshirsagar AV, Wilson JG, Reiner AP. Associationof sickle cell trait with chronic kidney disease and albuminuria in AfricanAmericans. JAMA 2014;312:2115-2125.5. Shetty A, Matrana MR. Renal medullary carcinoma: a case report and briefreview of the literature. Ochsner J 2014;14:270-275.6. Key NS, Derebail VK. Sickle-cell trait: novel clinical significance. HematologyAm Soc Hematol Educ Program 2010;2010:418-422.7. Harmon KG, Drezner JA, Klossner D, Asif IM. Sickle cell trait associated with aRR of death of 37 times in National Collegiate Athletic Association footballathletes: a database with 2 million athlete-years as the denominator. Br JSports Med 2012;46:325-330.8. Turkish Ministry of Health. Hemoglobinopati Kontrol Programı. Ankara,Ministry of Health, 2017. Available at https://hsgm.saglik.gov.tr/tr/cocukergen-tp-liste/hemoglobinopati-kontrol-program%C4%B1.html.©Copyright 2021 by Turkish Society of HematologyTurkish Journal of Hematology, Published by Galenos Publishing HouseAddress for Correspondence/Yazışma Adresi: Mahmut Yeral, M.D., Başkent University Faculty of Medicine,Adana Dr. Turgut Noyan Training and Research Center, Clinic of Hematology, Adana, TurkeyPhone : +90 322 327 27 27-2023,E-mail : drmyeral@gmail.com ORCID: orcid.org/0000-0002-9580-628XReceived/Geliş tarihi: June 22, 2020Accepted/Kabul tarihi: October 13, 2020DOI: 10.4274/tjh.galenos.2020.2020.0344160
Turk J Hematol 2021;38:155-174LETTERS TO THE EDITORNovel Mutation p.Asp374Val of SERPINC1 in a Turkish Family withInherited Antithrombin DeficiencyKalıtsal Antitrombin Eksikliği Olan Bir Türk Ailede SERPINC1 Geninde Yeni Bir Mutasyon(p.asp374val)Deniz AslanGazi University Faculty of Medicine, Department of Pediatrics, Division of Hematology, Ankara, TurkeyTo the Editor,Antithrombin (AT) is a major inhibitor of blood coagulation. Itis a serine protease inhibitor (SERPIN) that degrades thrombin,factor (F) IXa, FXa, FXIa, and FXIIa. It is constantly active, but thepresence of heparan sulfate or the administration of heparinswill further increase this inactivation [1]. Inherited AT deficiency(ATD) (OMIM #107300) is a rare autosomal dominant disorderassociated with an increased risk of venous thromboembolism(VTE), which usually develops in young and middle-aged adults[2].The AT gene (SERPINC1) contains seven exons and six introns[2]. Approximately 400 distinct mutations in SERPINC1 havebeen described [3]. ATD is characterized by either a reduced levelof circulating protein (quantitative, type I) or by the presenceof variant proteins (qualitative, type II) [4]. We herein reporta novel mutation, a base pair substitution (c.1121A>T) leadingto p.Asp374Val, in SERPINC1 in a patient with inherited ATDpresenting with cerebral sinovenous thrombosis.The proband was a 16-year-old Turkish male with a familyhistory of deep venous thrombosis (DVT). He was hospitalizedafter two days of recurrent headache. Diffusion magneticresonance imaging (MRI) and venography showed thrombosisin the right transverse sinus and right sigmoid sinus. He wasdiagnosed with cerebral sinovenous theombosis.He had no acquired risk factors such as obesity, infection,immobility, or trauma. Hematological work-up revealed reducedAT activity (8%; normal range: 80%-120%) (STA®-Stachrom®AT III Kit). Factor V Leiden (FVL), prothrombin 20210A mutation,presence of antiphospholipid and anticardiolipin antibodies,and protein C or S deficiency were excluded. Fibrinogen andthrombin time results were within normal limits. His motherand maternal aunt had been treated for unprovoked DVT duringtheir thirties without thorough investigation of the underlyingcause. The remaining family members had no history of DVT.Hematological evaluation of the core family revealed a reducedAT level in the mother (Figure 1). The level of AT in the maternalaunt was not available. None of the family members had liveror kidney disease, and there were no other factors contributingto AT reduction.The patient was successfully treated with subcutaneousenoxaparin at 1.0 mg/kg twice a day (adjusted according toFigure 1. The pedigree of the proband. A double circle or square represents an individual with a definite history of venousthromboembolism. Wt, wild-type; mut*, the p.Asp374Val mutation of SERPINC1, the mutation identified in the proband.161
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