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Bone marrow transplantation is now called hematopoietic stem cell transplantation (HSCT) because, apart from bone marrow, peripheral blood and umbilical cord blood can also be used as stem cell sources. HSCT can be performed in three ways. One is autologous stem cell transplantation. The other is allogeneic stem cell transplantation. Another type of transplantation applied in recent years is haploidentic transplantation. More than 20% of all allogeneic HSCTs are performed in patients under 20 years of age. HSCT has become a well-established lifesaving treatment procedure for many patients with hematological malignancies, hemoglobinopathies, inborn errors, or bone marrow failure syndromes. HSCT is now integrated as an essential part in many treatment concepts and protocols. HSCT is a treatment that provides an increase in success compared to other treatments when it is performed in suitable patients and in accordance with the standards. Selection of the appropriate transplant type, appropriate donor, appropriate preparation regimen, and close monitoring of complications are essential.

© 2022 by Turkish Society of Hematology Turkish Journal of Hematology, Published by Galenos Publishing House.Objective: Patients with solid malignancies are more vulnerable to severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection than the healthy population. The outcome of SARS-CoV-2 infection in highly immunosuppressed populations, such as in patients with hematological malignancies, is a point of interest. We aimed to analyze the symptoms, complications, intensive care unit admissions, and mortality rates of patients with hematological malignancies infected with SARS-CoV-2 in Turkey. Materials and Methods: In this multicenter study, we included 340 adult and pediatric patients diagnosed with SARS-CoV-2 from March to November 2020. Diagnosis and status of primary disease, treatment schedules for hematological malignancies, time from last treatment, life expectancy related to the hematological disease, and comorbidities were recorded, together with data regarding symptoms, treatment, and outcome of SARS-CoV-2 infection. Results: Forty four patients were asymptomatic at diagnosis of SARS-CoV-2 infection. Among symptomatic patients, fever, cough, and dyspnea were observed in 62.6%, 48.8%, and 41.8%, respectively. Sixty-nine (20%) patients had mild SARS-CoV-2 disease, whereas moderate, severe, and critical disease was reported in 101 (29%), 71 (20%), and 55 (16%) patients, respectively. Of the entire cohort, 251 (73.8%) patients were hospitalized for SARS-CoV-2. Mortality related to SARS-CoV-2 infection was 26.5% in the entire cohort; this comprised 4.4% of those patients with mild disease, 12.4% of those with moderate disease, and 83% of those with severe or critical disease. Active hematological disease, lower life expectancy related to primary hematological disease, neutropenia at diagnosis of SARS-CoV-2, ICU admission, and first-line therapy used for coronavirus disease-2019 treatment were found to be related to higher mortality rates. Treatments with hydroxychloroquine alone or in combination with azithromycin were associated with a higher rate of mortality in comparison to favipiravir use. Conclusion: Patients with hematological malignancy infected with SARS-CoV-2 have an increased risk of severe disease and mortality.

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Objective: Patients with solid malignancies are more vulnerable to severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection than the healthy population. The outcome of SARS-CoV-2 infection in highly immunosuppressed populations, such as in patients with hematological malignancies, is a point of interest. We aimed to analyze the symptoms, complications, intensive care unit admissions, and mortality rates of patients with hematological malignancies infected with SARS-CoV-2 in Turkey. Materials and Methods: In this multicenter study, we included 340 adult and pediatric patients diagnosed with SARS-CoV-2 from March to November 2020. Diagnosis and status of primary disease, treatment schedules for hematological malignancies, time from last treatment, life expectancy related to the hematological disease, and comorbidities were recorded, together with data regarding symptoms, treatment, and outcome of SARS-CoV-2 infection. Results: Forty four patients were asymptomatic at diagnosis of SARS CoV-2 infection. Among symptomatic patients, fever, cough, and dyspnea were observed in 62.6%, 48.8%, and 41.8%, respectively. Sixty nine (20%) patients had mild SARS-CoV-2 disease, whereas moderate, severe, and critical disease was reported in 101 (29%), 71 (20%), and 55 (16%) patients, respectively. Of the entire cohort, 251 (73.8%) patients were hospitalized for SARS-CoV-2. Mortality related to SARS-CoV-2 infection was 26.5% in the entire cohort; this comprised 4.4% of those patients with mild disease, 12.4% of those with moderate disease, and 83% of those with severe or critical disease. Active hematological disease, lower life expectancy related to primary hematological disease, neutropenia at diagnosis of SARS-CoV-2, ICU admission, and first-line therapy used for coronavirus disease-2019 treatment were found to be related to higher mortality rates. Treatments with hydroxychloroquine alone or in combination with azithromycin were associated with a higher rate of mortality in comparison to favipiravir use. Conclusion: Patients with hematological malignancy infected with SARS-CoV-2 have an increased risk of severe disease and mortality.

Amaç: Hemofili B (HB), yaklaşık 30.000 canlı erkek doğumda bir görülen, X’e bağlı kalıtsal kanama bozukluğudur. Klinik bulgular, koagülasyon faktörü 9’un aktivite düzeyine göre değişkenlik gösterir. Bugüne kadar koagülasyon faktörü 9’u kodlayan F9 geninde 1.200’den fazla varyant tanımlanmıştır. Varyantların yaklaşık %70’ini nokta mutasyonları oluşturur. Bu çalışmada, Türkiye’deki HB hastalarında F9 gen varyant dağılımının belirlenmesi ve yeni varyantlar tanımlayarak genotip-fenotip ilişkisine katkıda bulunulması amaçlanmıştır. Gereç ve Yöntemler: Türkiye’deki sekiz farklı merkezde HB tanısı ile takip edilen ve Ege Üniversitesi Tıp Fakültesinde Kasım 2018-Ocak 2020 tarihleri arasında moleküler analizi yapılmış 55 hasta çalışmaya alınmıştır. Olguların klinik ve laboratuvar bulguları hastane kayıtlarından elde edilmiştir. F9 geni dizi analizi, yeni nesil dizi analizi platformu (MiSeq™ Illimuna) kullanılarak yapılmıştır. Saptanan yeni varyantların patojeniteleri ACMG 2015 kriterlerine göre sınıflandırılmıştır. Saptanan varyantlar ile fenotip ilişkisi değerlendirilmiştir. Bulgular: Çalışmaya alınan 55 erkek hastanın 33 (%60)’ünde ağır, 15 (%27,3)’inde orta ve 7 (%12,7)’sinde hafif HB fenotipi vardı. F9 dizi analizi sonucunda 54 (%98,2) olguda 46 farklı varyant saptandı. Bu varyantların 30 (%63,8)’u yanlış anlamlı, 9 (%19,1)’u anlamsız, 3 (%6,4)’ü çerçeve kayması ve 4 (%8,5)’ü kırpılma noktası mutasyonuydu. Belirlenen varyantların 10 tanesi daha önce literatürde tanımlanmamıştı. Sonuç: Bu çalışmada, Türkiye’deki HB hastalarında, moleküler analizin tanı başarısı ve F9 geninde varyant dağılımı literatüre benzer şekilde bulunmuştur. Çalışmanın sonuçları, HB’nin genotipik olarak heterojen bir hastalık olduğunu desteklemektedir. On yeni varyant ilk kez bu çalışma ile tanımlanmış ve hastalığın genotip-fenotip ilişkisine katkıda bulunulmuştur., Objective: Hemophilia B (HB) is an X-linked hereditary bleeding disorder seen in approximately one in 30,000 live male births. Clinical findings vary according to the activity level of the coagulation factor 9. More than 1,200 mutations have been identified in the F9 gene to date. Point mutations make up approximately 70% of the mutations. In this study, we aimed to determine the F9 gene mutation spectrum in HB patients in Turkey and to contribute to the genotype-phenotype relationships identifying novel mutations. Material and Methods: Fifty five patients who were followed with a diagnosis of HB in 8 different centers and molecularly analyzed in Ege University Faculty of Medicine in November 2018 and January 2020 enrolled to the study. Clinical and laboratory findings of patients were obtained from hospital records. F9 gene sequence analysis was performed using a next generation sequencing platform (MiSeq™ Illimuna) Pathogenicity of novel variants were classified according to ACMG 2015. The correlation between mutation distribution and phenotype was evaluated. Results: Among 55 HB patients enrolled in the study, severe HB phenotype were determined in 33 (60%), moderate in 15 (27.3%) and mild in 7 (12.7%). Molecular analysis was revealed 46 different variants in 54 patients (98.2%) of these variants, 30 were missense (63.8%), nine nonsense (19.1%), three frameshift (6.4%), and four splice site (8.5%) mutations. Ten of 46 variants identified has not previously been reported. In one patient no mutation was dertected by sequencing. Conclusion: In this study, the molecular diagnostic success rate and F9 gene mutation spectrum in Turkish HB patients was in accordance with the literature. The results of the study support that HB is a genotypically heterogeneous disease. Ten novel mutations were identified for the first time with this study and contributed to the genotype-phenotype relationship sof the disease.

WOS: 000536674800121 …

Amaç: Otoimmun HemolitikAnemiler (OİHA) eritrosit yüzey membranına bağlanan otoantikorlar sonucueritrositlerin erken parçalanması ile karakterizedirler. Evans Sendromu (ES), OİHAgeliştiği sırada veya anemi geliştikten sonra immün trombositopeni gelişen birhemolitik anemidir. Bu çalışmada OİHA ve ES tanısı ile izlenen çocuk hastalarındemografik, klinik ve laboratuvar özelliklerinin, klinik seyirlerinin, tedaviyecevaplarının, ve prognozlarına etki eden faktörlerin değerlendirilmesinamaçlandık.Yöntem: Haziran 2006- Haziran 2011 tarihleriarasında Ondokuzmayıs Üniversitesi Çocuk Hematoloji Bilim Dalı’nda takip edilenOİHA ve ES tanılı hastaların dosyaları geriyedönük olarak incelendi. Otoimmunhemolitik anemi tanısı, aynı zaman diliminde hemoglobin konsantrasyonu11g/dl’den düşük, direkt antiglobintesti (DAT) pozitif ve periferik yaymada hemoliz bulgusu varlığının üçünün debulunduğu hastalara konuldu. Talasemimajor hastaları, kemik iliği transplantasyonu (KİT) sonrası gelişen hemolitikanemiler ve yenidoğan döneminde görülen Rh ve ABO uygunsuzluğuna bağlıhemolitik anemiler çalışmaya dahil edilmedi. Bu hastaların demografik, klinik ve laboratuvar özellikleri, etiyolojiderol oynayan faktörleri, klinik seyirleri, tedaviye cevapları ve sağ kalımları kaydedildi. Bulgular: ÇalışmamızaOİHA ve ES tanısı olan yaş ortancası 36 (12-44) [ortanca (ÇAA)] ay olan, 21(%57’si erkek) hasta dahil edildi. Evans sendromlu 7 olgudan 4’ünde (%57) ‘çift negatif T lenfosit’ pozitifliğiolduğu için bu hastalar otoimmün lenfoproliferatif sendrom (OLPS) tanısı alarakçalışma dışı bırakıldı. Yirmi bir hastanın 18’i (%85) OİHA, 3’ü (%15) ES idi.OİHA’lı hastaların 13’ü (%72) primer OİHA 5’i (%28) sekonder OİHA idi. İzole OİHA18 hastamızın tedaviye cevap durumu incelendiğinde; 16’sının (%88) tamremisyona girip tedavisinin kesildiği, 1’inin (%6) halen tedavi almakta olduğu,1’inin ise (%6) eksitus olduğu tespit edildi.Tartışma: Tam remisyona girenhastalarımızın yaklaşık yarısı standart steroid tedavisi ile remisyona girememişve bu hastalara ilave diğer tedaviler verilmiştir. Otoimmun hemolitik anemiler ve ES çocuklukçağında nadir görülmesine rağmen mortalite ve morbiditeleri fazladır.

Amaç:Bu çalışmada; akut myeloblastik lösemi (AML) tanısı ile kemoterapi bloklarıalan çocuk hastalara verilmiş olan toplam eritrosit, random trombosit ve afereztrombosit süspansiyonun, hastanın o dönemde almış olduğu kemoterapi (KT) bloğuile olan ilişkisi değerlendirilmiştir.Gereçve Yöntemler: AML tanısıile takip edilen toplam 146 hastanın transfüzyon ihtiyacı, hastaların kanbankası verilerine girilerek tedavi süresince, torba sayısı ve tipiolarak eritrosit, random trombosit ve trombosit süspansiyonu olarak belirlendi.Bulgular:Toplam37 hastanın tanı konulduğu andan tedavinin bittiği döneme kadarki süreçte hastabaşı ortalama toplam eritrosit kullanımı 27 (10-102) adetti. KT bloklarıesnasında hem eritrosit hem de aferez trombosit kullanımının en fazla olduğublok Aie bloğu idi. Bu blokta ki ortalama kişi başı eritrosit kullanımı 8 (2-20) adet iken, aferez trombositkullanımı 8,5 (1-28) adet olarak saptanmıştır. Random trombosit kullanım adetiise kişi başı ortalama 20 (7-139) adet iken, en fazla random trombosit kullanılanKT bloğu olan İdame’de ki ortalama kişi başı random trombosit kullanım adeti 27(1-102) olarak saptanmıştır.Sonuç: AML’liçocuklarda KT süresince çok sayıda kan ve kan ürünü transfüzyonu gereklidir. Butransfüzyonun etkinliği akut löseminin tipine, hastanın yaşına, cinsiyetine,hastanın aldığı KT bloğu ile o dönem aldığı KT ilaçlarına ya da hastanın odönemde ki enfeksiyon, sepsis, yaygın tüketim koagulopatisi gibi klinik birtabloda olup olmaması gibi çok sayıda etkene bağlı olabilir., Aim: This study evaluates the association of totalerythrocyte, random platelet and apheresis platelet suspension given tochildren receiving chemotherapy (CT) blocks with a diagnosis of acutemyeloblastic leukemia (AML) with the chemotherapy (CT) block the patientreceived in that period. Material and Methods: The transfusion need of a total of 146 patientsfollowed with a diagnosis of AML were determined as erythrocyte, randomplatelet and platelet suspension as number and type in bags from the moment thepatients were diagnosed to the period the treatment ended by entering the bloodbank data base records. Results: The number of total per patient average erythrocyteuse of a total of 37 patients during the process from the moment they were diagnosed to the period thetreatment ended was 27 (100-102). Of the CT blocks, the block in which botherythrocyte and apheresis platelet use was the highest was Aie block. While theaverage per person erythrocyte use was 8(2-20) in this block, apheresis platelet use was found as 8,5 (1-28). While thenumber of average per person random platelet use was 20 (7-139), the number ofaverage per person random platelet use was as 27 (1-102) in the Maintenanceblock, which is the CT block in which the most random platelet was used. Conclusion: In children withAML, a great number of blood and blood product transfusions are neededduring CT. The efficiency of these transfusions can depend on a great number offactors such as the type of acute leukemia, patient age, patient gender, the CTblock the patient is receiving, the CT drugs the patient is receiving in thatperiod and whether the patient has a clinical picture such as infection,sepsis, intense consumption coagulopathy during that period.