ISSN: 1300-7777 E-ISSN: 1308-5263
Turk J Hematol: 28 (3)
Volume: 28  Issue: 3 - 2011
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REVIEW
1.Allogeneic leukocytes in cardiac surgery: Good or bad?
Yavuz M. Bilgin, Anneke Brand
doi: 10.5152/tjh.2011.49  Pages 160 - 169 (2123 accesses)
Worldwide, cardiac surgery is a common procedure requiring a large quantity of allogeneic blood products, which are associated with postoperative complications. Leukocytes present in blood products may play a role in these complications, which are referred to as transfusion-related immunomodulation (TRIM). Several randomized controlled trials (RCTs) in different settings investigated the effects of allogeneic leukocytes in red blood cells (RBCs). Cardiac surgery studies reported a reduction in postoperative infections and mortality in patients that received leukocyte-reduced RBCs compared with leukocyte-containing RBCs; this was mainly due to more deaths due to infections and multiple organ dysfunction syndrome (MODS) in the group that received leukocyte-containing RBCs. Patients with postoperative complications had higher concentrations of inflammatory mediators. These findings suggest that leukocyte-containing transfusion during cardiac surgery induces a second insult to the systemic inflammatory response. In the present review we discuss the possible role of blood transfusions in cardiac surgery. Especially, we focus on the possible role of allogeneic leukocytes associated with postoperative complications after cardiac surgery.

RESEARCH ARTICLE
2.The role of tumor necrosis factor-alpha -308 G/A and transforming growth factor-beta 1 -915 G/C polymorphisms in childhood idiopathic thrombocytopenic purpura
Emel Okulu, Talia İleri, Vildan Koşan Çulha, Fatih Mehmet Azık, Yonca Eğin, Zümrüt Uysal, Nejat Akar
doi: 10.5152/tjh.2011.50  Pages 170 - 175 (1847 accesses)
AMAÇ: İdiopatik trombositopenik purpura (ITP)’nın etyolojisini anlayabilmek için, hastalığa yatkınlık üzerinde bazı sitokin gen polimorfizmleri incelenmiştir. Bu çalışmanın amacı çocukluk çağı ITP’si gelişimi ve klinik seyrinde tümör nekrozis faktör-alfa (TNF-α) –308G/A ve transforming growth faktör-beta1 (TGF-β1) –915G/C polimorfizmlerinin rolünü araştırmaktır.
YÖNTEMLER: Elli ITP’li çocuk hasta (25 akut ITP, 25 kronik ITP) ve 48 sağlıklı kontrol TNF-α–308G/A ve TGF-β1–915G/C polimorfizmleri için Light Cycler PCR analizi ile araştırıldı.
BULGULAR: Akut ITP, kronik ITP ve kontrollerde TNF-α–308G/A polimorfizm sıklığı sırasıyla %20, %16 ve %22,9 (p>0.05), ve TGF-β1–915G/C polimorfizm sıklığı sırasıyla %16, %8 ve %8,3 (p>0.05) idi. ITP gelişim riski ve klinik seyri ile TNF-α–308G/A (OR: 0.738, %95 Cl: 0.275-1.981 ve OR: 0.762, %95 Cl: 0.179-3.249) ve TGF-β1–915G/C (OR: 1.5, %95 Cl: 0.396-5.685 ve OR: 0.457, %95 Cl: 0.076-2.755) polimorfizmleri arasında ilişkili bulunamadı.
SONUÇ: Bu sonuçlar, çocukluk çağı ITP hastalarında TNF-α–308G/A ve TGF-β1–915G/C polimorfizmlerinin sıklığının sağlıklılardan farklı olmadığını göstermiş olup, bu polimorfizmlerin ITP gelişimi ve hastalığın klinik seyri için risk oluşturmadığını düşündürmektedir.
OBJECTIVE: To increase our understanding of the etiology of idiopathic thrombocytopenic purpura (ITP) some cytokine gene polymorphisms were analyzed for susceptibility to the disease. The aim of this study was to investigate the role of tumor necrosis factor-alpha (TNF-α) -308 G/A and transforming growth factor-beta 1 (TGF-β1) –915 G/C polymorphisms in the development and clinical progression of childhood ITP.
METHODS: In all, 50 pediatric patients with ITP (25 with acute ITP and 25 with chronic ITP) and 48 healthy controls were investigated via LightCycler® PCR analysis for TNF-α -308 G/A and TGF-β1 -915 G/C polymorphisms.
RESULTS: The frequency of TNF-α -308 G/A polymorphism was 20%, 16%, and 22.9% in the acute ITP patients, chronic ITP patients, and controls, respectively (p>0.05). The frequency of TGF-β1 -915 G/C polymorphism was 16%, 8%, and 8.3% in the acute ITP patients, chronic ITP patients, and controls, respectively (p>0.05). The risk of developing ITP and clinical progression were not associated with TNF-α -308 G/A (OR: 0.738, 95% CI: 0.275-1.981, and OR: 0.762, 95% CI: 0.179-3.249) or TGF-β1 -915 G/C (OR: 1.5, 95% CI: 0.396-5.685, and OR: 0.457, 95% CI: 0.076-2.755) polymorphisms.
CONCLUSION: The frequency of TNF-α -308 G/A and TGF-β1 -915 G/C polymorphisms did not differ between pediatric ITP patients and healthy controls, and these polymorphisms were not associated with susceptibility to the development and clinical progression of the disease.

3.Influence of detection of pretreatment cytogenetic abnormalities on first complete remission and survival in adult acute lymphoblastic leukemia
Milena Georgieva Velizarova, Evgueniy A. Hadjiev, Kamelia V. Alexandrova, Ivanka I. Dimova, Draga I. Toncheva, Nadya E. Dimitrova
doi: 10.5152/tjh.2011.51  Pages 176 - 185 (1659 accesses)
OBJECTIVE: Treatment of acute lymphoblastic leukemia (ALL) in adults focuses on the initial assessment of the prognostic relevant cytogenetic features as well as a response-guided therapy based on molecular data. We examined the importance of molecular-cytogenetic abnormalities for complete remission (CR) rates and the overall survival (OS) in adult ALLs.
METHODS: Conventional cytogenetics and fluorescence in situ hybridization were performed on bone marrow cells from 33 newly-diagnosed ALL adults. Two karyotype categories [standard- risk group- normal karyotype, hyperdiplody and other structural aberrations, and high-risk group-t(11q23)/MLL, t(9;22)/bcr-abl, t(1;19), t(8;14), C-MYC and complex karyotype] and the biologically and clinically relevant ALL ploidy subgroups were prospectively defined.
RESULTS: Chromosomal abnormalities were found in 52% of the cases with a high rate of poor-risk translocations - t(9;22), t(8q24), t(11q23), t(1;19). The total CR rate was 67% and the median time for achievement 2.33 months. Male sex, an age below 35 years and the absence of high risk translocations might have contributed to the high CR rates. Female patients, hyperdiplody, low white blood cells (WBC), and random cytogenetic aberrations had the longest OS. OS, 3- and 5-years survival periods were significantly shorter for poor-risk than standard risk group (p=.015, p=.001 and p=.005, respectively).
CONCLUSION: This study emphasizes the lack of influence of cytogenetic aberrations on the CR and the time to achieve CR. However, our observations show that these aberrations are an independent prognostic factor in adult ALL - they allow predicting therapy resistance and the OS time after intense treatment.

4.Variant Philadelphia translocations with different breakpoints in six chronic myeloid leukemia patients
Dilhan Kuru, Yelda Tarkan Argüden, Muhlis Cem Ar, Ayşe Çırakoğlu, Şeniz Öngören, Şükriye Yılmaz, Ahmet Emre Eşkazan, Ayhan Deviren, Teoman Soysal, Seniha Hacıhanefioğlu, Birsen Ülkü
doi: 10.5152/tjh.2011.52  Pages 186 - 192 (2346 accesses)
AMAÇ: t(9;22)(q34;q11) sonucu oluşan Philadelphia (Ph) kromozomu, kronik miyeloid lösemi (KML) olgularının %90’ dan fazlasında gözlenir. KML hastalarının %5-10 unda varyant Ph translokasyonları bulunur. Varyant translokasyonlar üç ve daha fazla kromozom içerebilmektedir. Bu çalışmada varyant Ph translokasyonlu 6 KML olgusu sunulmaktadır.
YÖNTEMLER: Kemik iliği örnekleri konvansiyonel sitogenetik kullanılarak incelendi; BCR-ABL 1D problarının kullanıldığı Floresan İn Situ Hibridizasyon (FISH) yöntemi bulguların doğrulanması ve konvansiyonel sitogenetik yöntemlerinin tespit etmekte yetersiz kaldığı yeniden düzenlemelerin tanımlanması amacıyla uygulandı.
BULGULAR: Çalışmada yer alan 6 hastanın varyant Ph translokasyonları: t(7;22)(p22;q11), t(9;22;15)(q34;q11;q22), t(15;22)(p11;q11), t(1;9;22;3)(q24;q34;q11;q21), t(12;22)(p13;q11) ve t(4;8;9;22)(q11;q13;q34;q11) dır.
SONUÇ: Üç olguda basit, 3 olguda ise karmaşık (kompleks) varyant Ph translokasyonları saptamış bulunuyoruz. Olgularımızın ikisi daha önce bildirilmeyen varyant Ph kromozomları taşıyorlardı. Bu olgulardan biri klasik Ph’lı bir klonun yanısıra 1, 9, 22 ve 3 numaralı kromozomları içeren t(1;9;22;3)(q24;q34;q11;q21) formüllü yeni bir kompleks Ph translokasyonuna; diğeri ise 4, 8, 9 ve 22 numaralı kromozomları içeren t(4;8;9;22)(q11;q13;q34;q11) kompleks translokasyonlu varyant Ph’ya sahiptiler. Varyant Ph’lı 6 olgunun tümü kötü prognoza işaret eden yetersiz imatinib cevabı gösterdiler.
OBJECTIVE: The Philadelphia (Ph) chromosome, consisting of the t(9;22)(q34;q11) translocation, is observed in ~90% of patients with chronic myeloid leukemia (CML). Variant Ph translocations are observed in 5%-10% of CML patients. In variant translocations 3 and possibly more chromosomes are involved. Herein we report 6 CML patients with variant Ph translocations.
METHODS: Bone marrow samples were examined using conventional cytogenetic meth ods. Fluorescence in situ hybridization (FISH) with whole-chromosome paints and BCR-ABL 1D probes were used to confirm and/or complement the findings, and identify rearrangements beyond the resolution of conventional cytogenetic methods.
RESULTS: Variant Ph translocations in the 6 patients were as follows: t(7;22)(p22;q11), t(9;22;15)(q34;q11;q22), t(15;22)(p11;q11), t(1;9;22;3)(q24;q34;q11;q21), t(12;22)(p13;q11), and t(4;8;9;22)(q11;q13;q34;q11).
CONCLUSION: Among the patients, 3 had simple and 3 had complex variant Ph translocations. Two of the presented cases had variant Ph chromosomes not previously described, 1 of which had a new complex Ph translocation involving chromosomes 1, 3, 9, 22, and t(1;9;22;3)(q24;q34;q11;q21) apart from a clone with a classical Ph, and the other case had variant Ph translocation with chromosomes 4, 8, 9, and 22, and t(4;8;9;22)(q11;q13;q34;q11) full complex translocation. Number of studies reported that some patients with variant Ph translocation were poor responders to imatinib. All of our patients with variant Ph translocations had suboptimal responses to imatinib, denoting a poor prognosis also. Variant Ph translocations may be important as they are associated with prognosis and therapy for CML patients.

5.Outcomes in 102 patients that present to the emergency department with chemotherapy-induced febrile neutropenia
Joo Han Lim, Hoon Kim, Woong Gil Choi, Kyung Hwan Kim, Dong Wun Shin, Moon Hee Lee
doi: 10.5152/tjh.2011.53  Pages 193 - 197 (1375 accesses)
OBJECTIVE: Febrile neutropenia (FN) is a major toxic responseto chemotherapy requiring prompt medical attention. There are a limited number of reports on clinical outcome in patients with FN that present to emergency departments.
METHODS: We retrospectively evaluated clinical manifestations, therapeutic outcomes, and risk factors for FN in 102 adult patients that presented to the emergency department between 1 January 2006 and 31 March 2009. FN was defined as a body temperature>38°C and a neutrophil count >0.5×109/L on the day of fever onset or the day after.
RESULTS: Mean age of the patients was 57 years. Mean absolute neutrophil count (ANC) was 436.8/mm3 (range: 0-1000/mm3). In all, 23 of the patients (22.5%) died due to complications related to FN. There were not a statistical difference in therapeutic outcome among tumor types, performance status, sex, depth of neutropenia, or time from emergency department presentationto initiation of antibiotic therapy.
Age was an important prognostic factor for therapeutic outcome. Mean age of fatal cases was 65 years versus 56 years for non-fatal cases (p=0.016). Bacteremia was noted in 19 patients, 10 (53%) of which died. The mortality rate was significantly higher in thepatients with blood culture-proven bacteria than in those whose blood culture yielded no organism (p=0.013).
CONCLUSION: FN patients that presented to the emergency department had a high mortality rate that increased with age. Given the increasing age of patients diagnosed with cancer as well as therapeutic interventions, the high mortality rate associated withchemotherapy-induced FN in elderly patients requires further study in order to reduce the risk of death.

6.Management of autoimmune hemolytic anemia in children and adolescents: A single center experience
Nazan Sarper, Suar Çakı Kılıç, Emine Zengin, Sema Aylan Gelen
doi: 10.5152/tjh.2011.54  Pages 198 - 205 (5652 accesses)
AMAÇ: Bu makalede otoimmün hemolitik anemi tedavisinin tartışılması amaçlanmıştır.
YÖNTEMLER: Üçüncü basamak bir hematoloji merkezinde 10 yıl içinde tanı alan tüm otoimmün hemolitik anemi olgularının (OİHA) (n=19) hastane kayıtları geriye dönük olarak incelenmiştir.
BULGULAR: Tanı sırasında ortanca yaş 5 (4 ay-17 yaş) tir. On üç hastada primer (idyopatik) OİHA, 3 hastada primer Evans Sendromu (ES), 2 hastada otoimmün lenfoproliferatif sendrom (OLPS) +ES, ve 1 hastada Wiskott-Aldrich sendromu (WAS) +OIHA saptanmıştır. On üç primer OİHA’li hastadan dokuzu 4-8 haftalık prednizolon tedavisine cevap verirken ve nüks etmezken, üç hasta daha uzun süreli prednizolon gerektirdi. Hastalardan biri prednizolona oldukça dirençliydi ve siklosporin A (CsA) ilavesiyle hemoliz kontrol altına alınabildi. Tüm primer OİHA’li hastalar ortalama 3 yıllık (4 ay-10 yıl) takipte remisyondaydı. Primer ES’lu hastaların ikisinde OİHA, OLPS’li hastalara benzer şekilde nükslerle seyretti. Primer ES’li hastaların birine splenektomi yapıldı ve halen remisyondadır. OLPS’li hastaların biri prednizolona ilave olarak dirençli OİHA nedeniyle mikofenolat mofetil de gerektirdi. WAS lı hasta dirençli OİHA atağı sırasında septisemi ile kaybedildi.
SONUÇ: Çocukluk çağında primer OİHA genellikle kortikosteroide iyi cevap veren akut bir seyir gösterirken, primer veya sekonder ES nükslerle giden kronik bir seyir gösterir ve tedavide kortikosteroidlere ilave olarak diğer immunosupresif ajanlar da gerekebilir. Altta yatan immün yetersizlik olduğunda splenektominin komplikasyonları göz ardı edilmemelidir. WAS’da OİHA kayda değer morbidite ve mortalite nedenidir.
OBJECTIVE: To present and discuss the treatment of autoimmune hemolytic anemia (AIHA).
METHODS: The medical records of all patients (n=19) diagnosed in a tertiary hematology center between 1999 and 2010 were retrospectively reviewed.
RESULTS: Median age at diagnosis of AIHA was 5 years (range: 4 months-17 years). In all, 13 patients had primary (idiopathic) AIHA, whereas 2 had primary Evans Syndrome (ES), 2 had autoimmune lymphoproliferative syndrome (ALPS)+ES, and 1 had Wiskott-Aldrich syndrome (WAS)+AIHA. Among the 13 primary idiopathic AIHA patients, 9 recovered following a 4-8-week course of prednisolone treatment without relapses, whereas 3 patients required a longer course of prednisolone. One AIHA patient that was very resistant to prednisolone recovered after cyclosporine A was added to the treatment. All patients with primary idiopathic AIHA were in remission for a median of 3 years (range: 4 months-10 years) at the time this manuscript was written. Among the patients with primary ES, 2 had relapses similar to the ALPS patients. Splenectomy was performed in 1 primary ES patient, who at the time this report was written was also in remission. One ALPS patient required the addition of mycophenolate mofetil due to prednisolone resistance. The WAS patient was treatment resistant and died due to septicemia.
CONCLUSION: Primary AIHA in pediatric patients generally has an acute onset and good response to corticosteroids. Primary or secondary ES has a chronic or relapsing course, and treatment may require other immunosuppressive agents in addition to corticosteroids. Complications of splenectomy must not be underestimated in patients with underlying immunodeficiency. AIHA often causes considerable morbidity and mortality in WAS. (Turk J Hematol 2011; 28: 198-205)

7.Surgical and histopathological effects of topical Ankaferd® hemostat on major arterial vessel injury related to elevated intra-arterial blood pressure
Tulga A. Ulus, Nilüfer N. Turan, Sertan Özyalçın, Gülden Aydoğ, Fatma Ulus, Hakan Göker, İbrahim C. Haznedaroğlu
doi: 10.5152/tjh.2011.55  Pages 206 - 212 (2497 accesses)
AMAÇ: Bu çalışmanın amacı büyük arter yaralanmalarında arter içi basınç artışı ile paralel olarak uygulanan topikal Ankaferd Blood Stopper (ABS)’ın cerrahi ve histopatolojik hemostatik etkilerini deneysel bir tavşan modelinde değerlendirmektir.
YÖNTEMLER: Çalışma grubunu ondört Yeni Zelanda tavşanı oluşturmuştur. Hayvanların bir ekstremitesinde oluşturulan femoral arter hasarında ABS uygulanırken karşı ekstremite kontrol olarak kullanılmıştır. Benzer biçimde, abdominal aort hasarı oluşturulan hayvanlarda, hayvanların yarısında topikal ABS uygulanırken diğer grup kontrol olarak çalışmaya alınmıştır. Büyük arter kanamaları normal arteriyel basınç altında oluşturulmuşken, çalışma intra-arteriyel basınç %50 arttırılarak tekrar edilmiştir. Histopatholojik incelemeler çalışılan tüm hayvanlarda gerçekleştirilmiştir.
BULGULAR: Hasar görmüş femoral arterden gelişen ortalama ‘kanama zamanı’ ABS olmadan 105.0±18.3 sn. iken topikal ABS uygulamasıyla 51.4±9.8 saniyeye düşürülmüştür (p<0.05). Hasar görmüş femoral arterden gelişen ortalama ‘kanama miktarı’ ABS olmadan 5.0±1.5 mg iken topikal ABS uygulamasıyla 1.6±0.4 mg’a gerilemiştir (p<0.05). Abdominal aorta kanama modelinde ise ortalama ‘kanama zamanı’ ve ortalama ‘kanama miktarı’ kan basıncı yükseltildiğinde bile ABS kullanımıyla azalmasına karşın kontrol grupları ile farklılık istatistiksel anlamlılık düzeylerine erişmemiştir. Hasar görmüş arteriyel yapıların histopatolojik incelemelerinde ABS uygulaması ile ilişkili kırmızı küre aggregatları belirgin biçimde gözlenmiştir.
SONUÇ: Topikal Ankaferd Hemostat uygulaması deneysel büyük arter modelinde “kanama zamanı” ve “kanama miktarı” değerlerini normal ve yüksek arter-içi basınç durumlarında aşağıya çekmiştir. ABS-bağımlı eritroid aggregasyon vasküler doku düzeyinde belirgin olarak gösterilmiştir. Gözlemler bu yeni hemostatik ajan’ın kanamayı engelleyici ve damar onarımına zemin hazırlayan etkilerinin gelecek deneysel ve klinik çalışmalarla ortaya konulması için temel teşkil etmektedir.
OBJECTIVE: The aim of this study was to assess the surgical and histopathological hemostatic effects of topical Ankaferd blood stopper (ABS) on major arterial vessel injury related to elevated intra-arterial blood pressure in an experimental rabbit model.
METHODS: The study included 14 New Zealand rabbits. ABS was used to treat femoral artery puncture on 1 side in each animal and the other untreated side served as the control. Likewise, for abdominal aortic puncture, only 50% of the aortic injuries received topical liquid ABS and the others did not (control). The experiment was performed under conditions of normal arterial blood pressure and was repeated with a 50% increase in blood pressure. Histopathological analysis was performed in all of the studied animals.
RESULTS: Mean bleeding time in the control femoral arteries was 105.0±18.3 s, versus 51.4±9.8 s (p<0.05) in those treated with ABS. Mean blood loss from the punctured control femoral arteries was 5.0±1.5 mg and 1.6±0.4 mg from those treated with ABS (p<0.05). Histopathological examination of the damaged arterial structures showed that ABS induced red blood cell aggregates.
CONCLUSION: ABS administered to experimental major arterial vessel injury reduced both bleeding time and blood loss under conditions of normal and elevated intra-arterial blood pressure. ABS-induced erythroid aggregation was prominent at the vascular tissue level. These findings will inform the design of future experimental and clinical studies on the anti-bleeding and vascular repairing effects of the novel hemostatic agent ABS.

8.ADAMTS-13 gene expression in antiphospholipid syndrome
Veysel Sabri Hançer, Reyhan Diz Küçükkaya, Ayşegül Topal Sarıkaya
doi: 10.5152/tjh.2011.56  Pages 213 - 218 (1763 accesses)
AMAÇ: Antifosfolipid sendrom (AFS), tekrarlayan tromboz ve fetal kayıplar ile karakterize olan otoimmün bir hastalıktır. Trombotik mikroanjiyopati (TMA), katastrofik AFS ve nefropatinin eşlik ettiği AFS olgularında önemli bir histolojik bulgudur. Ailesel trombotik trombositopenik purpura olgularının incelenmesi sonucu, ADAMTS-13 enziminin işlev bozukluğuna yol açan mutasyonların varlığını göstermiştir. Bu çalışmada ADAMTS-13 mutasyonları ile, enzimin aktivite ve miktarının AFS’ye katkısının olup olmadığının araştırılması amaçlanmıştır.
YÖNTEMLER: Bu kapsamda C365del, Q449stop kodonu, P475S ve C508Y mutasyonları analiz edildi. Transkripsiyon aşaması gerçek zamanlı polimeraz zincir reaksiyonu, enzimin aktivite ve miktarı ise florojenik bir yöntem ile incelendi.
BULGULAR: Varlığı araştırılan mutasyonlar kontrol ve hasta gruplarında tespit edilmedi. ADAMTS-13 mRNA ve protein miktarının hasta grubunda kontrol grubundaki düzeyin yarısı kadar olduğu saptandı. (p<0.0001). Enzim aktivitesi açısından ise iki grup arasında istatistik olarak anlamlı bir fark gözlenmedi.
SONUÇ: Sonuç olarak, ADAMTS-13 enzim aktivitesi ve miktarının AFS hastalarında trombotik komplikasyonlar, trombositopeni ve gebelik komplikasyonları ile ilişkili olmadığı saptandı.
OBJECTIVE: Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by recurrent thrombosis and fetal mortality. Thrombotic microangiopathy (TMA) is an important histological finding in catastrophic APS (CAPS) and in APS patients with nephropathy. Analysis of familial thrombotic thrombocytopenic purpura patients showed that there are mutations in the ADAMTS-13 gene that lead to functional defects in the ADAMTS-13 enzyme. The aim of this study was to investigate the prevalence of the aforementioned mutations in APS, as well as to evaluate the level and activity of the ADAMTS-13 enzyme in patients with APS.
METHODS: C365del, Q449stop codon, P475S, and C508Y mutations were analyzed in APS patients. Transcriptions were analyzed using real-time PCR, and the level and activity of ADAMTS-13 were analyzed via fluorogenic assay.
RESULTS: None of the mutations tested were present in the patient or control groups. The level of ADAMTS-13 mRNA in the patient group was 50% lower than that in the control group. Although a significant difference in ADAMTS-13 activity was not observed between the patient and control groups, a significant association was observed with the level of ADAMTS-13 (p<0.0001).
CONCLUSION: The level and activity of ADAMTS-13 were not associated with thrombotic complications, thrombocytopenia, or pregnancy complications in the patients with APS.

CASE REPORT
9.The effect of HBB: c.*+96T>C (3’UTR +1570 T>C) on the mild b-thalassemia intermedia phenotype
Türker Bilgen, Duran Canatan, Yunus Arıkan, Akif Yeşilipek, İbrahim Keser
doi: 10.5152/tjh.2011.57  Pages 219 - 222 (2814 accesses)
Hemoglobin beta (HBB): c.*+96T>C, β-globin geninde çok nadir görülen ve klinik önemi henüz tam olarak aydınlatılamamış bir değişimdir. Bu çalışmada; bir Türk ailede HBB: c.*+96T>C değişiminin beta-talasemi intermedia fenotipi üzerine etkisini araştırmayı amaçladık. Beta-talasemi intermedia ön tanılı çocuk ile anne ve babasının β-globin gen mutasyonları DNA dizi analizi yöntemiyle tarandı. Aile bireylerinin hematolojik ve klinik bulguları elde edilerek, genotipleri ile birlikte değerlendirildi. Direkt DNA dizi analizi yöntemiyle mutasyon taranması sonucunda, olgunun Cod 8 (-AA) ve HBB: c.*+96T>C mutasyonları açısından birleşik heterozigot olduğu belirlendi. Annenin Cod 8 (-AA) mutasyonu, babanın ise HBB: c.*+96T>C mutasyonu yönünden taşıyıcı oldukları görüldü. Anne klasik beta-talasemi taşıyıcı bulgularına sahip iken, babanın klinik ve hematolojik açıdan normale yakın olduğu belirlendi. Diğer yandan olgu, hematoloji bulgularına ek olarak, hepato-splenomegalinin varlığı ile ılımlı tip beta-talasemi intermedia tanısı aldı. Bu çalışmada, HBB: c.*+96T>C değişimi ilk kez bir Türk ailesinde bildirilmektedir. Cod 8 (-AA) ve HBB: c.*+96T>C değişimleri açısından birlikte heterozigot olan olguda, sadece Cod 8 (-AA) mutasyonu ile açıklanamayacak klinik bulguların gözlenmesi nedeniyle, HBB: c.*+96T>C’ nın taşıyıcılarda sessiz, ancak başka bir mutasyonla birlikte olduğunda hastalık şiddetini artıran, klinik açıdan önemli bir β-globin geni mutasyonu olduğu sonucuna varıldı. Ayrıca, çiftlerden birinin taşıyıcılığının genetik testlerle kesinleştiği durumlarda, diğerinin klinik ve hematolojik olarak taşıyıcı bulgularına sahip olmasa bile, HBB: c.*+96T>C gibi hematolojik açıdan sessiz mutasyonlar için taranması gerektiğini önermekteyiz.
Hemoglobin beta (HBB): c.*+96T>C substitution is very rare among β-globin gene mutations and its clinical significance remains to be clarified. The present study aimed to investigate the role of HBB: c.*+96T>C in the β-thalassemia intermedia phenotype in a Turkish family. The proband and parents were screened for β-globin gene mutations via direct sequencing. Hematological and physical examination results were recorded, and correlated according to genotype. The proband was compound heterozygous for Cod 8 (-AA) and HBB: c.*+96T>C, whereas his mother and father were heterozygous for Cod 8 (-AA) and HBB: c.*+96T>C, respectively. The father had almost normal hematological findings, whereas the mother had the typical β-thalassemia trait phenotype. The proband was diagnosed as mild β-thalassemia intermedia based on hepatosplenomegaly and hematological findings. To the best of our knowledge this is the first report of HBB: c.*+96T>C mutation in a Turkish family. HBB: c.* 96T>C substitution is a very rare, but clinically relevant β-globin gene mutation. Additionally, we think that if 1 spouse is a carrier for β-globin gene mutation the other should be screened for silent mutations, such as HBB: c.*+96T>C mutation of the β-globin gene, even if she/he does not have any clinical or hematological signs of the β-thalassemia trait phenotype.

10.Eculizumab before and after allogeneic hematopoietic stem cell transplantation in a patient with paroxysmal nocturnal hemoglobinuria
Hakan Göker, Burak Uz, Yahya Büyükaşık, Salih Aksu, İbrahim Haznedaroğlu, Nilgün Sayınalp, Yasemin Karacan, Fatma Tekin, Osman İlhami Özcebe
doi: 10.5152/tjh.2011.58  Pages 223 - 227 (2597 accesses)
Paroksismal noktürnal hemoglobinüri (PNH) intravasküler hemoliz, venöz trombozlar ve sitopenilerden oluşan bir triadla kendini gösterir. Hastalığın tedavisi genellikle destekleyici türdedir. Kök hücre nakli tek şifa sağlayıcı tedavi yolu olmakla birlikte, anlamlı oranda morbidite ve mortaliteyle birliktedir. Burada ekulizumab (C5 düzeyinde terminal kompleman aktivitesini inhibe eden monoklonal insan kaynaklı antikor) tedavisinin işlem öncesi ve hemen sonrasında kullanıldığı bir allojeneik çevresel kök hücre transplantasyonu olgusunu sunmak istedik. Ekulizumab, allojeneik nakil öncesinde kullanıldığında hastanın hemoliz ataklarında ve transfüzyon ihtiyacında belirgin bir azalma gözlendi. Bununla birlikte, naklin ilk gününde meydana gelen hemolitik atak nedeniyle ekulizumab uygulaması tekrarlandı. Hemolitik atak başarıyla tedavi edilirken, sonrasında hastanın transfüzyon ihtiyacı olmadı. Bu olgu sunumu bize, PNH'lı ve allojeneik periferik kök hücre nakli uygulaması yapılan hastalarda meydana gelebilecek hemolitik atakların tedavisinde ekulizumabın güvenli ve etkili bir şekilde uygulanabileceğini düşündürmektedir.
Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by the triad of intravascular hemolysis, venous thrombosis, and cytopenia. Treatment of PNH is generally supportive. Bone marrow transplantation is the only curative therapy for PNH, but is associated with significant morbidity and mortality. Herein, we present a patient with PNH that received eculizumab, a humanized monoclonal antibody that blocks activation of the terminal complement at C5, before and immediately following allogeneic peripheral stem cell transplantation. Prior to hematopoietic stem cell transplantation eculizumab treatment markedly reduced hemolysis and transfusion requirement; however, 1 d post transplantation a hemolytic episode occured, which was successfully stopped with eculizumab re-treatment. Afterwards the patient did not require additional transfusions. The results of this study indicate that early administration of eculizumab may be a safe and effective therapy for hemolytic episodes associated with allogeneic peripheral stem cell transplantation in patients with PNH.

11.Extramedullary plasmacytoma presenting as a mediastinal mass
Arpana Shukla, Vivek Bansal, Ritu Bhutani, Gaurav Kumar, Jai Sharma, Surinder Solanki, Anurag Mehta
doi: 10.5152/tjh.2011.59  Pages 228 - 231 (1785 accesses)
Ekstramedüller plazmasitom (EMP) kemik iliği tutulumu veya multipl miyelomun diğer sistemik özelliklerinin bulunmadığı bir plazma hücre neoplazisidir. Özellikle mediasten kökenli EMP seyrek görüldüğünden büyük ölçekli klinik çalışma sayısı oldukça azdır. Burada reaktif plevra sıvısı ile birlikte mediastende plazmasitomun görüldüğü nadir bir olgu bildirilmektedir. Derece 4 dispne ve disfajiden yakınan 58 yaşındaki bir kadında PET incelemesi mediasten kitlesini ortaya çıkarmıştır. CT-yönlendirmeli biyopsi bulguları ön mediastenden kaynaklanan IgG kappa-tip EMP tanısını koydurmuştur. Mediastene lokal radyoterapi uygulanarak iyi klinik ve radyolojik yanıt elde edilmiştir. Radyoterapi mediasten kökenli EMP için etkin bir tedavi olmakla birlikte. bu kitlelerin büyük bir bölümü multipl miyelomla birlikte geliştiğinden PET’i de içeren tam bir klinik çalışma yapmak zorunludur.
Extramedullary plasmacytoma (EMP) is a plasma cell neoplasm without bone marrow involvement or other systemic characteristics of multiple myeloma. Few large-scale clinical studies have been conducted because of the rarity of EMP, especially when it arises from the mediastinum. Herein we report a rare case of solitary mediastinal plasmacytoma with reactive pleural effusion. A 58-year-old female presented with grade 4 dyspnea and dysphagia, with a mediastinal mass observed with on PET. CT-guided biopsy results were suggestive of IgG kappa-type EMP arising from the anterior mediastinum. The patient was treated with local radiotherapy to the mediastinum, and had clinical and radiological response s were good. Radiotherapy is an effective treatment for mediastinal EMP, but a complete workup is mandatory, including PET, as the majority of such masses coexist with multiple myeloma.

12.Non-Hodgkin's lymphoma in a chronic myelocytic leukemia patient treated with imatinib
Semra Paydaş, Berna Bozkurt Duman, Melek Ergin
doi: 10.5152/tjh.2011.60  Pages 232 - 234 (1678 accesses)
İmatinib klinikte kullanılan tirozin kinaz (TK) inhibitörlerinin önemli bir örneğidir. Bcr Abl füzyon proteininin ATP bağlayan bölgesini bloke eder ve selektif olarak TK aktivitesini bloke eder. Kronik miyeloid lösemide (KML) imatinib'e yanıt heyecan vericidir ve kabul edilebilir toksisite profiline sahiptir. Bu özellikleri ile son on yılda KML yönetimini değiştirmiştir. Klinikte kullanılan her ilaçta olduğu gibi bazı yan etkiler uzun süreli takipte rapor edilmektedir. Diğer yan etkilerine ek olarak, imatinib tedavisi sırasında bazı neoplastik bozukluklar yayımlanmıştır. Burada KML nedeniyle imatinib almakta iken non-Hodgkin lenfoma (NHL) gelişen bir olgu sunulmuştur.
Imatinib is an important example of tyrosine kinase inhibitors (TKIs) used in clinical practice. Imatinib blocks the ATP binding site of the Bcr-Abl fusion protein and selectively inhibits Bcr-Abl tyrosine kinase (TK) activity. Treatment of chronic myelocytic leukemia (CML) with imatinib is encouraging and it has an acceptable toxicity profile, and as such has changed the management of CML during the last decade. As with all drugs used in clinical practice, side effects of imatinib have been reported in studies with extended follow-up periods. In addition, some neoplastic disorders have been reported to occur during imatinib therapy. Herein we present a CML case that developed non-Hodgkin’s lymphoma (NHL) while receiving imatinib treatment.

LETTER TO EDITOR
13.The incidence of alpha-thalassemia in Iraqi Turks
Arjan Esmael, Ayşenur Öztürk, Nejat Akar
doi: 10.5152/tjh.2011.61  Pages 235 - 236 (1909 accesses)
Abstract | Full Text PDF

14.Non-Hodgkin’s lymphoma in a hemophilic patient with a traumatic hematoma
Nihal Özdemir, Ayşe Yurt, Emine Türkan, Tiraje Celkan
doi: 10.5152/tjh.2011.62  Pages 237 - 238 (1590 accesses)
Abstract | Full Text PDF

15.A chronic eosinophilic leukemia patient presenting with blurred vision
Demircan Özbalcı, Ülkü Ergene, Harun Yazgan
doi: 10.5152/tjh.2011.63  Pages 239 - 240 (1502 accesses)
Abstract | Full Text PDF

16.The frequency of FV G1691A and PT G20210A mutations in an Albanian population
A. Avni Atay, Mustafa Tekin, Klodian Allajalebeu, Yonca Eğin, Nejat Akar
doi: 10.5152/tjh.2011.64  Pages 241 - 242 (1409 accesses)
Abstract | Full Text PDF

17.Cytopenia associated with iron deficiency anemia and iron therapy: A report of two cases
Nihal Özdemir, Tiraje Celkan, Rejin Kebudi, Meltem Bor, İnci Yıldız
doi: 10.5152/tjh.2011.65  Pages 243 - 244 (1584 accesses)
Abstract | Full Text PDF

18.Accidental intrathecal methotrexate overdose
Emel Özyürek, Namık Özbek
doi: 10.5152/tjh.2011.66  Pages 245 - 246 (1468 accesses)
Abstract | Full Text PDF

19.CTLA-4 A49G polymorphism and autoimmune blood disease: A comment
Viroj Wiwanitkit
doi: 10.5152/tjh.2011.67  Page 247 (1254 accesses)
Abstract | Full Text PDF

20.Iron deficiency anemia and total antioxidant capacity
Viroj Wiwanitkit
doi: 10.5152/tjh.2011.68  Page 248 (1311 accesses)
Abstract | Full Text PDF

21.Decreased erythrocyte catalase level in iron deficiency
Şinasi Özsoylu
doi: 10.5152/tjh.2011.69  Page 249 (1395 accesses)
Abstract | Full Text PDF

22.Partial splenic embolization versus splenectomy for the management of autoimmune hemolytic anemia: A response
Selami Koçak Toprak
doi: 10.5152/tjh.2011.71  Pages 250 - 251 (1744 accesses)
Abstract | Full Text PDF

IMAGES IN HEMATOLOGY
23.A rare cause of iron deficiency anemia in a child: Lithobezoar
Yasemin Altuner Torun, Edip Torun, Ayşe Betül Ergül, Musa Karakükçü, Türkan Patıroğlu
doi: 10.5152/tjh.2011.72  Pages 252 - 253 (1730 accesses)
Abstract | Full Text PDF

24.An unusual cause of iron deficiency anemia in a healthy man: Hijamah
Remzi Adnan Akdoğan, Elif Akdoğan
doi: 10.5152/tjh.2011.73  Pages 254 - 256 (1928 accesses)
Abstract | Full Text PDF

 



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