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Data on stem cell transplantation (SCT) for Diamond-Blackfan Anemia (DBA) is limited. We studied patients transplanted for DBA and registered in the EBMT database. Between 1985 and 2016, 106 DBA patients (median age, 6.8 years) underwent hematopoietic stem cell transplantation from matched-sibling donors (57%), unrelated donors (36%), or other related donors (7%), using marrow (68%), peripheral blood stem cells (20%), both marrow and peripheral blood stem cells (1%), or cord blood (11%). The cumulative incidence of engraftment was 86% (80% to 93%), and neutrophil recovery and platelet recovery were achieved on day +18 (range, 16 to 20) and +36 (range, 32 to 43), respectively. Three-year overall survival and event-free survival were 84% (77% to 91%) and 81% (74% to 89%), respectively. Older patients were significantly more likely to die (hazard ratio, 1.4; 95% confidence interval, 1.06 to 1.23; P < .001). Outcomes were similar between sibling compared to unrelated-donor transplants. The incidence of acute grades II to IV of graft-versus-host disease (GVHD) was 30% (21% to 39%), and the incidence of extensive chronic GVHD was 15% (7% to 22%). This study shows that SCT may represent an alternative therapeutic option for transfusion-dependent younger patients. (C) 2021 Published by Elsevier Inc. on behalf of The American Society for Transplantation and Cellular Therapy.

Allogeneic HSCT represents the only potentially curative treatment for very high risk (VHR) ALL. Two consecutive international prospective studies, ALL-SCT-(I)BFM 2003 and 2007 were conducted in 1150 pediatric patients. 569 presented with VHR disease leading to any kind of HSCT. All patients >2 year old were transplanted after TBI-based MAC. The median follow-up was 5 years. 463 patients were transplanted from matched donor (MD) and 106 from mismatched donor (MMD). 214 were in CR1. Stem cell source was unmanipulated BM for 330 patients, unmanipulated PBSC for 135, ex vivo T-cell depleted PBSC for 62 and cord-blood for 26. There were more advanced disease, more ex vivo T-cell depletion, and more chemotherapy based conditioning regimen for patients transplanted from MMD as compared to those transplanted from MSD or MD. Median follow up (reversed Kaplan Meier estimator) was 4.99 years, median follow up of survivals was 4.88, range (0.01–11.72) years. The 4-year CI of extensive cGvHD was 13 ± 2% and 17 ± 4% (p = NS) for the patients transplanted from MD and MMD, respectively. 4-year EFS was statistically better for patients transplanted from MD (60 ± 2% vs. 42 ± 5%, p p

Relapsed/refractory Ewing sarcoma prognosis is dreadful, especially for recurrences within the first 2 years after initial diagnosis. It is obvious that there is an urgent need for novel treatment strategies for this dismal situation. NK-92 is an activated NK cell line with high cytotoxicity against malignant cells. Here, we present a relapsed/refractory Ewing sarcoma case who had no response to conventional strategies and recieved intratumoral NK-92 cell injections. We observe that intratumoral injection of NK-92 is safe, has no toxicity and shows preliminary evidence of tumor response in relapsed/refractory Ewing Sarcoma. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s13691-020-00406-6) contains supplementary material, which is available to authorized users.

EgeUn###, Invasive fungal infections (IFIs) are a major cause of infection-related morbidity and mortality in patients undergoing allogeneic hematopoietic stem cell transplantation (HSCT). Data from pediatric settings are scarce. To determine the incidence, risk factors and outcomes of IFIs in a 180-day period post-transplantation, 408 pediatric patients who underwent allogeneic HSCT were retrospectively analyzed. The study included only proven and probable IFIs. The cumulative incidences of IFI were 2.7%, 5.0%, and 6.5% at 30, 100, and 180 days post-transplantation, respectively. According to the multivariate analysis, the factors associated with increased IFI risk in the 180-day period post-HSCT were previous HSCT history (hazard ratio [HR], 4.57; 95% confidence interval [CI] 1.42-14.71; P =.011), use of anti-thymocyte globulin (ATG) (HR, 2.94; 95% CI 1.27-6.80; P =.012), grade III-IV acute graft-versus-host-disease (GVHD) (HR, 2.91; 95% CI 1.24-6.80; P =.014) and late or no lymphocyte engraftment (HR, 2.71; 95% CI 1.30-5.62; P =.007). CMV reactivation was marginally associated with an increased risk of IFI development (HR, 1.91; 95% CI 0.97-3.74; P =.063). IFI-related mortality was 1.5%, and case fatality rate was 27.0%. The close monitoring of IFIs in pediatric patients with severe acute GVHD who receive ATG during conditioning is critical to reduce morbidity and mortality after allogeneic HSCT, particularly among those with prior HSCT and no or late lymphocyte engraftment.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Allogeneic hematopoietic stem cell transplantation (HSCT) is beneficial for pediatric patients with relapsed or (very) high-risk acute lymphoblastic leukemia (ALL) in remission. A total of 1115 consecutive patients were included in the ALL SCT 2003 BFM study and the ALL SCT 2007 I-BFM study and were stratified according to relapse risk (standard versus high versus very high risk of relapse) and donor type (matched sibling versus matched donor versus mismatched donor). A total of 148 patients (60% boys; median age, 8.7 years; B cell precursor ALL, 75%) were transplanted from mismatched donors, which was defined as either less than 9/10 HLA-compatible donors or less than 5/6 unrelated cord blood after myeloablative conditioning regimen (total body irradiation based, 67%) for high relapse risk (HRR; n = 42) or very HRR (VHRR) disease (n = 106). The stem cell source was either bone marrow (n = 31), unmanipulated peripheral stem cells (n = 28), T cell ex vivo depleted peripheral stem cells (n = 59), or cord blood (n = 25). The median follow-up was 5.1 years. The 4-year rates of overall survival (OS) and event-free survival were 56% ± 4% and 52% ± 4%, respectively, for the entire cohort. Patients transplanted from mismatched donors for HRR disease obtained remarkable 4-year OS and event-free survival values of 82% ± 6% and 80% ± 6%, respectively, whereas VHRR patients obtained values of 45% ± 5% and 42% ± 5% (P .001), respectively. The cumulative incidence of relapse was 29% ± 4% and that of nonrelapse mortality 19% ± 3%. The cumulative incidence of limited and extensive chronic graft-versus-host disease was 13% ± 3% and 15% ± 4%, respectively, among the 120 patients living beyond day 100. Multivariate analysis showed that OS was lower for transplanted VHRR patients (P = .002; hazard ratio [HR], 3.62; 95% confidence interval [CI], 1.60 to 8.20) and for patients beyond second complete remission (CR2) versus first complete remission (P .001; HR, 3.68; 95% CI, 1.79 to 7.56); relapse occurred more frequently in patients with VHRR disease (P = .026; HR, 3.30; 95% CI, 1.16 to 9.60) and for those beyond CR2 (P = .005; HR, 4.16; 95% CI, 1.52 to 10.59). Nonrelapse mortality was not significantly higher for cytomegalovirus-positive recipients receiving cytomegalovirus-negative grafts (P = .12; HR, 1.96; 95% CI, .84 to 4.58). HSCT with a mismatched donor is feasible in pediatric ALL patients but leads to inferior results compared with HSCT with better matched donors, at least for patients transplanted for VHRR disease. The results are strongly affected by disease status. The main cause of treatment failure is still relapse, highlighting the urgent need for interventional strategies after HSCT for patients with residual leukemia before and/or after transplantation.

The advances in hematopoietic cell transplantation (HCT) over the last decade have led to a transplant-related mortality below 15%. Hepatic sinusoidal obstruction syndrome/veno-occlusive disease (SOS/VOD) is a life-threatening complication of HCT that belongs to a group of diseases increasingly identified as transplant-related, systemic endothelial diseases. In most cases, SOS/VOD resolves within weeks; however, severe SOS/VOD results in multi-organ dysfunction/failure with a mortality rate > 80%. A timely diagnosis of SOS/VOD is of critical importance, given the availability of therapeutic options with favorable tolerability. Current diagnostic criteria are used for adults and children. However, over the last decade it has become clear that SOS/VOD is significantly different between the age groups in terms of incidence, genetic predisposition, clinical presentation, prevention, treatment and outcome. Improved understanding of SOS/VOD and the availability of effective treatment questions the use of the Baltimore and Seattle criteria for diagnosing SOS/VOD in children. The aim of this position paper is to propose new diagnostic and severity criteria for SOS/VOD in children on behalf of the European Society for Blood and Marrow Transplantation.

Nowadays, allogeneic haematopoietic stem cell transplantation (allo-HSCT) is a well-established treatment procedure and often the only cure for many patients with malignant and non-malignant diseases. Decrease in short-term complications has substantially contributed to increased survival. Therefore long-term sequelae are reaching the focus of patient care. One of the most important risks of stem cell transplant survivors is infertility. As well as in the field of allo-HSCT also the field of reproductive medicine has achieved substantial advances to offer potential options for fertility preservation in both boys and girls. Access to these procedures as well as their financing differs significantly throughout Europe. As all European children and adolescents should have the same possibility, the Paediatric Diseases Working Party of the European Society for Blood and Marrow Transplantation organised an expert meeting in September 2015. This manuscript describes the recommendations for the diagnosis and pre-emptive procedures that should be offered to all children and adolescents in Europe who have to undergo an allo-HSCT.

INTRODUCTION Diamond-Blackfan Anemia (DBA) is a congenital pure red cell aplasia, secondary to ribosomal protein genetic defects that usually presents within the first year of age and can be associated with congenital abnormalities and increased risk of cancer. Some patients are successfully treated with steroids but most of them remain transfusion-dependent. Stem Cell Transplantation (SCT) represents the only curative option for this disease, however data from literature is scarce and limited to a very small number of cases. In this retrospective study we describe the outcome of SCT in patients with DBA reported in the EBMT data base. PATIENTS AND METHODS The study was conducted on behalf of Severe Aplastic Anemia Working Party of the EBMT and was based on data of patients affected with DBA who underwent SCT and registered in the EBMT Data Base. Clinical information of the disease and details on transplant procedures and follow-up were collected by a specific form distributed to Centres participating in the study. RESULTS Between 1985-2016, 106 patients (60 males-46 females) aged 6.8 yo (range 1-32) underwent SCT from matched sibling donor (58, 57%), unrelated donor (37, 36%) or from other donors (7, 7%) using bone marrow (73, 69%), peripheral blood (21, 20%) or cord blood (12, 11%) as cell source. 91 patients (86%) received a myeloblative regimen which included Busulfan in 66 cases. 86% (80-93%) of patients engrafted by day 28. Median days to neutrophils and platelets engraftment were 18 and 36, respectively. EFS and OS at 36 months were 81% (74-89%) and 84% (77-91%), respectively. OS was significantly higher (p=0.01) in patients CONCLUSION To the best of our knowledge, this is the largest reported cohort of patients transplanted for DBA and having a long follow-up. The very good OS of patients undergoing transplant from both sibling and unrelated donors and the rather low rate of cGvHD confirms that this procedure can be considered an alternative option for transfusion-dependent patients Disclosures Bader: Riemser, Neovii: Research Funding; Medac: Patents & Royalties, Research Funding; Amgen (Brasil), Novartis: Consultancy, Speakers Bureau; Celgene: Consultancy. Risitano:Alexion: Honoraria, Research Funding, Speakers Bureau; Achillion: Research Funding; Apellis: Honoraria, Membership on an entity's Board of Directors or advisory committees; Apellis: Honoraria, Membership on an entity's Board of Directors or advisory committees; Biocryst: Membership on an entity's Board of Directors or advisory committees; Alexion: Honoraria, Research Funding, Speakers Bureau; Amyndas: Consultancy; Samsung: Membership on an entity's Board of Directors or advisory committees; Samsung: Membership on an entity's Board of Directors or advisory committees; Roche: Membership on an entity's Board of Directors or advisory committees; Novartis: Membership on an entity's Board of Directors or advisory committees, Research Funding; Roche: Membership on an entity's Board of Directors or advisory committees; Novartis: Membership on an entity's Board of Directors or advisory committees, Research Funding; Amyndas: Consultancy; Biocryst: Membership on an entity's Board of Directors or advisory committees; Pfizer: Honoraria, Membership on an entity's Board of Directors or advisory committees; Pfizer: Honoraria, Membership on an entity's Board of Directors or advisory committees; Ra Pharma: Research Funding; Ra Pharma: Research Funding; Alnylam: Research Funding; Alnylam: Research Funding; Achillion: Research Funding. Peffault de Latour:Pfizer: Consultancy, Honoraria, Research Funding; Amgen: Research Funding; Novartis: Consultancy, Honoraria, Research Funding; Alexion: Consultancy, Honoraria, Research Funding.

Compound heterozygosity for Hb Tyne and HbS, that is very rare, was identified by direct DNA sequencing of the beta-globin gene in a Turkish patient. Hematological investigation of a girl at the age of 9 due to the presence of HbS (40.7%) led to the identification of a compound heterozygosity at codons 5-6. This was found to be the result of substitution of cytosine (C) for thymidine (T) at the fifth position and a substitution of adenine (A) for thymidine (T) at the sixth position of the beta globin gene. As a result of these mutations, the order of amino acids at codons 5-6 was changed from Pro-Glu to Ser-Val, respectively. Since the co-inheritance of Hb Tyne and HbS had not been reported in literature before, our case set an example for identification of coinheritance of Hb Tyne and HbS for the first time. Therefore, such cases may be considered as an important example for understanding the structural variants of hemoglobin and may provide important clues for critical amino acids responsible for stabilization of hemoglobin tetrameric structure and genetic counseling.Nadir görülen Hb Tyne ve HbS birlikteliği, hematolojik tetkik sonucu %40.7 HbS bulunan dokuz yaşındaki bir kız çocukta, beta-globin geninin direkt DNA dizi analizi sonucu ile kodon 5 ve kodon 6’da tanımlanmıştır. Bu mutasyonlar beta-globin geninde 5. kodonda sitozin yerine timinin, 6. kodonda adenin yerine timinin yer alması ile Hb Tyne ve HbS varyantları olarak ortaya çıktıkları görüldü. Bu mutasyonların sonucu olarak 5. ve 6. kodonlardaki aminoasitler ise sırasıyla Pro ve Glu yerine Ser ve Val şeklinde değişmişlerdir. Hb Tyne ve HbS’nin birlikte kalıtımı ilk defa bizim olgumuzda gözlenmiş olup, bu bulgu hemoglobinin yapısal varyantlarının, tetrame rik yapısının stabilizasyonu için sorumlu kritik aminoasitlerin öneminin anlaşılmasında ve doğru genetik danışma verilmesinde önemli rol oynayabilir.

Introduction: Most pediatric patients (pts) with ALL receive total body irradiation (TBI) for myeloablative conditioning of allogeneic hematopoietic stem cell transplantation (allo-HSCT). It is unproven whether TBI can be replaced by chemotherapy (CHT). Methods: To compare the outcomes of TBI- versus (vs.) CHT-based conditioning, we performed a retrospective EBMT-registry based study. Children between 2 and 18 years of age (y.) after myeloablative conditioning for first allo-HSCT of bone marrow (BM) or peripheral blood SC (PBSC) from matched sibling (MSD) or unrelated donors (UD) in first (CR1) or second remission (CR2) between 2000 and 2012 were included. Propensity score weighting was used to consider the covariate "distribution of TBI recipients" for pts who did not receive TBI. Results: In total 3071 pts (CR1: 1504 (49%), CR2: 1567 (51%)) were included. CR1: 1045 pts (69%) received BM and 459 pts (31%) PBSC from MSD (760 (51%)) or UD (744 (49%)). CR2: 1067 pts (68%) received BM and 500 pts (32%) PBSC from MSD (675 (43%)) or UD (892 (57%)). Overall, conditioning was TBI- in 2647 (86%) and CHT-based in 424 pts (14%). Busulfan/Cyclophosphamide (Bu/Cy) and Bu/Cy/Etoposide (Bu/Cy/Eto) were the two most frequently applied CHT combinations in CR1 (68 (32%), 66 (31%)) and CR2 (68 (32%), 52 (25%)). The remaining conditionings included 5 different combinations of chemotherapeutics (other chemo). 1504 pts in CR1 were conditioned with TBI (1291), Bu/Cy/Eto (66) or other chemo (147) with a median follow-up of 4.4, 3.4 and 2.4 y. In weighted univariate analysis no significant differences were detected for LFS (5-y.-LFS, range: 62.4 to 67.5%) and relapse incidence (5-y.-RI, range: 24.0 to 29.0%). In pairwise testing, OS after Bu/Cy/Eto was significantly better compared with TBI (5-y.-OS, 78.7 vs. 66.8%, P=.006). Non-relapse mortality was significantly higher after other chemo (5-y.-NRM, 12.7%, P Other significant influencing factors on LFS were age (5-y.-LFS, 2-11 y. 65.8 vs. 12-18 y. 58.0%, P=.009), y. of HSCT (2008-2012 65.9 vs. 2000-2007 59.6%, P=.035) and donor type (MSD 64.9 vs. UD 59.5%, P=.007). RI was influenced by y. of HSCT (5-y.-RI, 2008-2012 21.7 vs. 2000-2007 26.8%. P=.026). OS was influenced by age (5-y.-OS, 2-11 y. 72.7 vs. 12-18 y. 61.7%, P In weighted multivariable Cox model clustered on EBMT centers, TBI-based conditioning in CR1 was associated with lower RI (HR 0.70, P=.047), lower OS (HR 1.54, P=.017) and higher NRM (HR 3.97, P 1567 pts in CR2 were conditioned with TBI (1356), Bu/Cy (68) or other chemo (143) with a median follow-up of 3.9, 3.2 and 3.1 y. In weighted univariate analysis highly significant differences of survival were detected. TBI-based conditioning resulted in highest 5-y.-LFS of 52.2% (Bu/Cy 41.0%, other chemo 18.4%, P Other significant influencing factors on LFS were age (5-y.-LFS, 2-11 y. 53.5 vs. 12-18 y. 43.0%, P In weighted multivariable Cox model clustered on EBMT centers, TBI-based conditioning in CR2 was associated with higher LFS (HR 0.48, P Conclusion: Conditioning by TBI demonstrated clear superiority in comparison to CHT for children with ALL undergoing HSCT in CR2. For pts in CR1, TBI- and CHT-based conditioning showed similar results. This retrospective data is currently re-evaluated in a prospective, randomized, international trial (ALL SCTped 2012 FORUM). Disclosures Büchner: Novartis Pharmaceuticals Corporation: Consultancy; Pfizer: Consultancy. Veys: Bellicum: Research Funding; Servier: Research Funding. Bader: Novartis, Medac, Amgen, Riemser, Neovii: Consultancy, Honoraria, Research Funding.

Abnormal hemoglobins are the most common hemoglobinopathies after beta-thalassemia in the world. More than 40 abnormal hemoglobin variants have been reported in the Turkish population. Therefore, it is one of the target areas for carrier screening. In our study, we aimed to screen the abnormal hemoglobins that cause clinical thalassemia in the Antalya population. Materials and methods: The present study identified the abnormal hemoglobins associated with the beta-globin gene using different molecular genetic techniques following high performance liquid chromatography (HPLC) results. We studied 972 postnatal and 361 prenatal cases (total: 1333 cases, 2666 chromosomes) with the disorder from 1998 up to July 2008. DNA extraction from peripheral blood, chorionic villi samples (CVS), amniotic cells, and cord blood samples was carried out using standard procedures. Following polymerase chain reaction (PCR) and amplification of the beta-globin gene, allele refractory mutation system (ARMS), reverse dot blot hybridization (RDBH), Nanochip, and DNA sequencing were performed to identify the mutations. Variable number of tandem repeats (VNTR) analysis was used for elimination of maternal contamination in prenatal diagnosis. We identified and characterized abnormal hemoglobin variants with novel and rare beta-thalassemic mutations. Results: Seven different abnormal hemoglobins were found in Antalya province, Turkey, namely Hb Antalya, Hb Tyne, HbS, Hb G-Coushatta, HbE, Hb Knossos, and Hb D-Los Angeles. Conclusion: Some of the abnormal hemoglobin variants found are unstable and some of them cannot be detected by simple electrophoretic examinations. Our findings suggest that abnormal hemoglobins are more frequent than expected among the other abnormal hemoglobins found in Turkey, and it is important both to perform prenatal diagnosis and to give genetic counseling for abnormal hemoglobins to families at risk for thalassemia.

Hemoglobinopathies include an enormous patient population in south part of Turkey. Allogeneic hematopoietic stem cell transplantation is only curative treatment in thalassemia. Optimal medical therapy is very important in the years before transplant to achieve a successful transplantation. In this study, the indications, risk factors, results and the situation related with hematopoietic stem cell transplantation in thalassemia in Turkey was reviewed., Hemoglobinopatiler ülkemizin özellikle güney bölümünde önemli bir hasta populasyonunu kapsamaktadır. Talasemide küratif tek tedavi yöntemi allojenik hematopoetik kök hücre naklidir. Nakilden önceki yıllarda uygun medikal tedavinin verilmesi transplantın başarısı açısından çok önemlidir. Bu yazıda talasemideki kök hücre nakli ile ilgili endikasyonlar, risk faktörleri, sonuçlar ve Türkiye'deki durum gözden geçirilmiştir.

One hundred and one children with visceral leishmaniasis (VL) who admitted to Akdeniz University Hospital during a 20-year period were analyzed. Median age of the patients was 3 years (range: 5.5 months-13 years). The most common symptoms at presentation were fever, pallor and abdominal distension. Splenomegaly was found in all of the patients while hepatomegaly was present in 98%. Anemia (96%), leukopenia (74%) and thrombocytopenia (56%) were the main laboratory abnormalities. Thirty-three (33%) of the patients were pancytopenic on admission. Bone marrow smear was positive for leishmania in 91% of the patients. Seventy-four patients were treated with antimony +/- pentamidine and 27 with amphotericin B. Three of our patients died because of secondary infections and hemorrhage. Relapse was observed in two patients. No patient showed post kala-azar dermal leishmaniasis findings. We conclude that VL should be considered in patients with prolonged fever, hepatosplenomegaly and cytopenia who live in an endemic region. Amphotericin B is a therapeutic agent as effective as pentavalent antimony compounds and could be preferred.

YEN DOĞANLARDA ORAK HÜCRE ANEM S N NTARANMASIZEYNEP ÖZTÜRKDünyada yaygın olarak görülen hemoglobinopatiler hemoglobinmolekülünün genetik bozukluklarıdır. Hb S en yaygın hemoglobin varyantıdırve β-globin zincirinin altıncı pozisyonunda glutamik asit yerine valin geçişi iletek bir aminoasitin yer değiştirmesi sonucu oluşur. Orak hücre hastalıklarıAfrika, Akdeniz ülkeleri, Türkiye, Arab yarımadası, Hindistan Yarımadası veAmerika'da yaygındır. Ülkemiz için özellikle de bölgemiz için önemli birproblemdir. Yetişkinler arasında yapılan bir çalışmada talasemiden sonra enyüksek prevalansa sahip olarak bulunmuştur fakat yenidoğan dönemindeyapılmış bir çalışmaya literatürde rastlanılmamıştır. Orak hücre hastalıkları içinetkili bir yenidoğan taraması erken tanı ve beraberinde azalmış morbitidesağlayabilir ve bu şekilde orak hücre hastalığı olan çocuğun hayatını kurtarabilir.Bu çalışmada Antalya populasyonunda yenidoğan döneminde orak hücrehastalığı veya taşıyıcılığının prevelansını belirlemeyi amaçladık. ÇalışmaAkdeniz Üniversitesi Hastanesi'nde 8 aylık bir dönemde gerçekleştirildi.Çalışmaya 806 olgu dahil edildi. Yenidoğanların topuk kanları Guithre filtrekağıtllarına alındı ve 3-mm'lik yuvarlaklar test için kullanıldı. Örnekler Bio RadVaryant HPLC (yüksek basınçlı sıvı kromatografisi) sistemi ile çalışıldı ve testmetodu olarak Sickle Cell Short Program seçildi. Bu program özellikleyenidoğan döneminde hemoglobin A, F, S, C, D ve E'yi nitel olarak belirlemekiçin tasarlanmıştır. Üç yenidoğan orak hücre taşıyıcısı (%0,37) ve bir yenidoğanHb D taşıyıcısı (%0,12) bulundu. Taşıyıcı olgular, ebeveynleri ve kardeşleriyledaha sonraki dönemlerde çağırıldı ve hemoglobin analizleri çalışılarak konulantanı doğrulandı. Bu ailelere genetik danışmanlık verildi. Hiç homozigot orakhücre hastası belirlenmedi. Bu sonucun örnek sayısının düşük olmasındankaynaklandığı düşünüldü. Orak hücre hastalığının öldürücü komplikasyonlarınıönlemek ve hemoglobinopatilerin yaygın olduğu bölgemizdeki taşıyıcı bireyleribelirlemek için her yenidoğanın orak hücre hastalığı açısından taranmasıgerektiği sonucuna varıldı.Anahtar kelimeler: Orak hücre hastalığı, yenidoğan taraması, HPLC NEWBORN SCREENINNG FOR SICKLE CELL ANEMIAZEYNEP ÖZTÜRKHemoglobinopathies are hereditary disorders of the hemoglobin moleculewith a high prevalance worldwide. Hb S is the most common variant hemoglobinand results from a single aminoacid subsititution of valine for glutamic acid atthe sixth position of the β-globin chain. Sickle cell diseases are common amongpeople from Africa, Mediterranean countries, Turkey, the Arabian peninsula,Indian subcontinent, and United States. It is an important problem for ourcountry especially for our region. In a screening study including adults, Hb Shad the highest prevalance after thalassemia but there is no study in literatureperformed in newborn period. An effective neonatal screening program for sicklecell disease will reduce morbity by providing early diagnosis and by this way cansave lives of children with this disorder.In this study we aimed to identify prevelance of sickle cell disorder andheterozygous individuals in newborn period in Antalya population. This studywas conducted in 8-month period in Akdeniz University Hospital. During thestudy period, 806 samples were tested. Heel prick samples of newborn takenonto Guithre filter paper and 3-mm spots used for test. The samples wereperformed by Bio Rad Variant HPLC (High Presssure Liquid Chromatography)system and Sickle Cell Short Program was chosen as the test method. Thisprogram is specially designed to provide a qualitative result for hemoglobins A,F, S, C, D, and E in neonates. Three newborn was found to be sickle cell trait(%0,37) and one was found to be Hb D trait (%0,12). All four trait infants withtheir parents and siblings were called later and their hemoglobins analysis wereperformed again to confirm thr diagnosis. Genetic counselling was given to thosefamilies. No homozygous sickle cell patient was detected It may be because ofthe low number of the samples. In conclusion, every newborn should bescreened for sickle cell disease to prevent potentially fatal complications ofsickle cell disease and to identify heterozygous individuals in our region wherehemoglobinopathies are very common.Key words: Sickle cell disease, newborn screening, HPLC 60