Pub Date : 2023-10-17DOI: 10.12974/2312-5411.2023.10.02
Nikolay N. Mamaev, Alena I. Shakirova, Tatiana L. Gindina, Maria V. Latypova, Ildar M. Barkhatov, Airat M. Sadykov, Sergey S. Riumin, Yurii N. Kuznetsov, Alexander D. Kulagin
A discovery of nonrandom recurrent interstitial aberration at the long arm of chromosome 5 was made by Van den Berghe et al. in 1974. For a long time, this entity was classified as myelodysplastic syndrome (MDS). Meanwhile, its definition as well as classification criteria were repeatedly changed due to both clinical studies and advances in new techniques. In particular an insufficiency of ribosome-forming protein (RPS14) gene was found soon after similar gene RPS19 discovery in patients with severe inherited Diamond-Blackfan anemia (DBA). It cannot be excluded that basic pathogenetic mechanisms, including participation of activated gene TP53, seem to be similar in both entities.
This article for the first time presents the quantitative data on the BAALC expression in the majority (25/31) of patients tested with 5q- deletions to be under the cut-off values. It concerns a group of 14/16 patients with isolated 5q- anomaly, and 11 other cases in whom 5q- deletion was combined with additional non-identical chromosomal aberrations. On the contrary, this molecular parameter exceeded the cut-off levels in all (n=10) MDS patients without 5q- abnormality. Hence, these data might effectively support an assumption of a ribosomopathy in cases of isolated 5q- deletion. Since about 8-10 % of these patients are transformed into MDS and/or secondary AML, a possible exclusion of isolated 5q- deletion syndrome from MDS category should be discussed carefully and this assumption is needed an additional support in larger studies.
Van den Berghe等人在1974年发现了5号染色体长臂处的非随机复发性间质畸变。长期以来，这种实体被归类为骨髓增生异常综合征(MDS)。同时，由于临床研究和新技术的进步，其定义和分类标准不断发生变化。特别是在严重遗传性Diamond-Blackfan贫血(DBA)患者中，在发现类似基因RPS19后不久，发现核糖体形成蛋白(RPS14)基因不足。不能排除两种实体的基本发病机制，包括活化基因TP53的参与，似乎是相似的。
本文首次给出了大多数(25/31)5q-缺失患者BAALC表达低于临界值的定量数据。它涉及一组14/16患者分离5q-异常，和11其他病例中，5q-缺失合并额外的非同染色体畸变。相反，在所有(n=10)例无5q-异常的MDS患者中，该分子参数均超过了临界值。因此，这些数据可能有效地支持在分离的5q-缺失病例中存在核糖体病的假设。由于这些患者中约有8- 10%转化为MDS和/或继发性AML，因此应仔细讨论将孤立性5q缺失综合征从MDS类别中排除的可能性，这一假设需要在更大规模的研究中得到额外的支持。
{"title":"New Insights into the Nature of the 5q- Deletion Syndrome Based on Quantitative Measurement of BAALC- Expressing Stem Cell Burdens","authors":"Nikolay N. Mamaev, Alena I. Shakirova, Tatiana L. Gindina, Maria V. Latypova, Ildar M. Barkhatov, Airat M. Sadykov, Sergey S. Riumin, Yurii N. Kuznetsov, Alexander D. Kulagin","doi":"10.12974/2312-5411.2023.10.02","DOIUrl":"https://doi.org/10.12974/2312-5411.2023.10.02","url":null,"abstract":"A discovery of nonrandom recurrent interstitial aberration at the long arm of chromosome 5 was made by Van den Berghe et al. in 1974. For a long time, this entity was classified as myelodysplastic syndrome (MDS). Meanwhile, its definition as well as classification criteria were repeatedly changed due to both clinical studies and advances in new techniques. In particular an insufficiency of ribosome-forming protein (RPS14) gene was found soon after similar gene RPS19 discovery in patients with severe inherited Diamond-Blackfan anemia (DBA). It cannot be excluded that basic pathogenetic mechanisms, including participation of activated gene TP53, seem to be similar in both entities.
 This article for the first time presents the quantitative data on the BAALC expression in the majority (25/31) of patients tested with 5q- deletions to be under the cut-off values. It concerns a group of 14/16 patients with isolated 5q- anomaly, and 11 other cases in whom 5q- deletion was combined with additional non-identical chromosomal aberrations. On the contrary, this molecular parameter exceeded the cut-off levels in all (n=10) MDS patients without 5q- abnormality. Hence, these data might effectively support an assumption of a ribosomopathy in cases of isolated 5q- deletion. Since about 8-10 % of these patients are transformed into MDS and/or secondary AML, a possible exclusion of isolated 5q- deletion syndrome from MDS category should be discussed carefully and this assumption is needed an additional support in larger studies.","PeriodicalId":91541,"journal":{"name":"Journal of hematology research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136037750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-07-19DOI: 10.12974/2312-5411.2023.10.01
D.J. Govani, R. A. Trambadia, A.S. Bathani, K. Swamy, P. Midha, R. Patel
Dilution or concentration of blood sample during patient receiving intravenous fluids or at presentation of disease with severe volume depletion is common clinical scenario. There are various gold standard advanced technological time-consuming elective methods like radioactive chromium method, radioactive iodine method, etc which are useful for diagnosis of dilution or concentration. But during routine examination especially at smaller peripheral centres or low-income countries where these facilities are lacking, it is difficult to check that either sample is diluted, concentrated or due to altered pathological diseased state as both will give modified results than the actual state of the patient’s current pathophysiological condition. In acute care trauma settings, intensive or critical care units and high dependency units with critically ill patients many of them having multiple organ dysfunction and associated co-morbidities, many of the decisions about their care will be based on the results of hematological and biochemical profile and the time is very crucial to take decision and act in immediately. The simple innovative approach described allows quick and accurate decision making based on correct interpretation of the investigative findings.
{"title":"Novel Simple Approach for Differentiating Concentrated or Diluted Blood Samples, Hematological Disorders and Organ Dysfunctions in Acute Care Settings-A Global Perspective","authors":"D.J. Govani, R. A. Trambadia, A.S. Bathani, K. Swamy, P. Midha, R. Patel","doi":"10.12974/2312-5411.2023.10.01","DOIUrl":"https://doi.org/10.12974/2312-5411.2023.10.01","url":null,"abstract":"Dilution or concentration of blood sample during patient receiving intravenous fluids or at presentation of disease with severe volume depletion is common clinical scenario. There are various gold standard advanced technological time-consuming elective methods like radioactive chromium method, radioactive iodine method, etc which are useful for diagnosis of dilution or concentration. But during routine examination especially at smaller peripheral centres or low-income countries where these facilities are lacking, it is difficult to check that either sample is diluted, concentrated or due to altered pathological diseased state as both will give modified results than the actual state of the patient’s current pathophysiological condition. In acute care trauma settings, intensive or critical care units and high dependency units with critically ill patients many of them having multiple organ dysfunction and associated co-morbidities, many of the decisions about their care will be based on the results of hematological and biochemical profile and the time is very crucial to take decision and act in immediately. The simple innovative approach described allows quick and accurate decision making based on correct interpretation of the investigative findings.","PeriodicalId":91541,"journal":{"name":"Journal of hematology research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45135334","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-12-01DOI: 10.12974/2312-5411.2022.09.04
N. Mamaev, M. Latypova, Tatiana Gindina, M. Kanunnikov, Anna A. Osipova, S. Bondarenko, Sergey S. Riumin, L. Zubarovskaya
Favorable prognostic significance of sole trisomy 8 and its associations with additional chromosome aberrations was confirmed in 7 adult and 3 pediatric patients with myelodysplastic syndromes treated with hematopoietic stem cell transplantation (HSCT). The group of comparison included 10 MDS patients with sole monosomy 7 or 5 chromosome and those within complex karyotypes (CK). Cytogenetic investigations were carried out according to standard GTG and multi-colored fluorescence in situ hybridization (mFISH) techniques. Our data revealed significant difference in overall survival (OS) between the tested and control groups (p=0.045) thus being additional argument reinforcing the concept of favorable prognosis of trisomy 8 in HSCT-treated MDS patients. Eight of ten patients (5 with sole trisomy 8 and three with more complex karyotypes) are alive. Of the deceased patients, one had CK trisomy 8 was associated with poor-prognostic monosomy 7. In accordance with experimental findings Sloand et al., 2007, this favorable effect of trisomy 8 in MDS patients might be linked with inhibition of programmed cell death with anti-apoptotic proteins, including myc, which are activated in these cases and needs additional in-depth studies.
{"title":"Trisomy 8 is Associated with Favorable Outcome in the Patients with Myelodysplastic Syndromes Treated with Allogeneic Hematopoietic Stem Cell Transplantation","authors":"N. Mamaev, M. Latypova, Tatiana Gindina, M. Kanunnikov, Anna A. Osipova, S. Bondarenko, Sergey S. Riumin, L. Zubarovskaya","doi":"10.12974/2312-5411.2022.09.04","DOIUrl":"https://doi.org/10.12974/2312-5411.2022.09.04","url":null,"abstract":"Favorable prognostic significance of sole trisomy 8 and its associations with additional chromosome aberrations was confirmed in 7 adult and 3 pediatric patients with myelodysplastic syndromes treated with hematopoietic stem cell transplantation (HSCT). The group of comparison included 10 MDS patients with sole monosomy 7 or 5 chromosome and those within complex karyotypes (CK). Cytogenetic investigations were carried out according to standard GTG and multi-colored fluorescence in situ hybridization (mFISH) techniques. Our data revealed significant difference in overall survival (OS) between the tested and control groups (p=0.045) thus being additional argument reinforcing the concept of favorable prognosis of trisomy 8 in HSCT-treated MDS patients. Eight of ten patients (5 with sole trisomy 8 and three with more complex karyotypes) are alive. Of the deceased patients, one had CK trisomy 8 was associated with poor-prognostic monosomy 7. In accordance with experimental findings Sloand et al., 2007, this favorable effect of trisomy 8 in MDS patients might be linked with inhibition of programmed cell death with anti-apoptotic proteins, including myc, which are activated in these cases and needs additional in-depth studies.","PeriodicalId":91541,"journal":{"name":"Journal of hematology research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44081121","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-11-30DOI: 10.12974/2312-5411.2022.09.03
Marie-Eve Emond-Boisjoly, É. Lemieux-Blanchard, Antonia Maietta, Stéphanie Forté
Renal monoclonal immunoglobulin deposition disease (MIDD) is a rare disease defined by deposition of monoclonal light chains and/or heavy chains on basement membranes and vascular walls of the kidney. We describe a case of a 71-year-old woman with kidney failure secondary to monoclonal immunoglobulin deposition disease lambda in association with plasma cell dyscrasia. Her initial serum protein electrophoresis did not demonstrate a monoclonal protein, and classic cast nephropathy was absent on renal biopsy. However, lambda light chain deposits and associated changes confirmed MIDD. She achieved a very good partial response (VGRP) after 8 cycles of CyBorD (cyclophosphamide, bortezomib, dexamethasone) and her kidney function improved. This case highlights the importance of an early diagnostic with renal biopsy to prevent end-stage renal disease. A review of the existing literature and a discussion on the management of the disease is presented.
{"title":"Multiple Myeloma Presenting as Acute Kidney Failure Secondary to Lambda Light Chain Deposition","authors":"Marie-Eve Emond-Boisjoly, É. Lemieux-Blanchard, Antonia Maietta, Stéphanie Forté","doi":"10.12974/2312-5411.2022.09.03","DOIUrl":"https://doi.org/10.12974/2312-5411.2022.09.03","url":null,"abstract":"Renal monoclonal immunoglobulin deposition disease (MIDD) is a rare disease defined by deposition of monoclonal light chains and/or heavy chains on basement membranes and vascular walls of the kidney. We describe a case of a 71-year-old woman with kidney failure secondary to monoclonal immunoglobulin deposition disease lambda in association with plasma cell dyscrasia. Her initial serum protein electrophoresis did not demonstrate a monoclonal protein, and classic cast nephropathy was absent on renal biopsy. However, lambda light chain deposits and associated changes confirmed MIDD. She achieved a very good partial response (VGRP) after 8 cycles of CyBorD (cyclophosphamide, bortezomib, dexamethasone) and her kidney function improved. This case highlights the importance of an early diagnostic with renal biopsy to prevent end-stage renal disease. A review of the existing literature and a discussion on the management of the disease is presented.","PeriodicalId":91541,"journal":{"name":"Journal of hematology research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42392348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-06-03DOI: 10.12974/2312-5411.2022.09.01
Bogdan Ioan Coculescu, Gabi Valeriu Dincă, G. Manole, E. Coculescu
Currently, one of the major medical topics researched is the identification in the most diverse diseases, of new molecular biomarkers that would allow the establishment of a positive diagnosis, but also of the response to a certain established treatment (risk biomarkers). Prolonging the lifespan of individuals and increasing the frequency of heart failure from 1-2% in the adult population, regardless of age, to 10-12% in people over 70 explains the worldwide interest in identifying biomarkers and in this condition, regardless of etiology, which offers the possibility of complex assessment of the condition, including the prognosis.
{"title":"Identification of Possible Biomarkers in Cardiovascular Diseases","authors":"Bogdan Ioan Coculescu, Gabi Valeriu Dincă, G. Manole, E. Coculescu","doi":"10.12974/2312-5411.2022.09.01","DOIUrl":"https://doi.org/10.12974/2312-5411.2022.09.01","url":null,"abstract":"Currently, one of the major medical topics researched is the identification in the most diverse diseases, of new molecular biomarkers that would allow the establishment of a positive diagnosis, but also of the response to a certain established treatment (risk biomarkers). Prolonging the lifespan of individuals and increasing the frequency of heart failure from 1-2% in the adult population, regardless of age, to 10-12% in people over 70 explains the worldwide interest in identifying biomarkers and in this condition, regardless of etiology, which offers the possibility of complex assessment of the condition, including the prognosis.","PeriodicalId":91541,"journal":{"name":"Journal of hematology research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46297590","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-06-03DOI: 10.12974/2312-5411.2022.09.02
C. Pepe, S. Eberle, H. Donato, N. Basack, M. T. Baña, M. Cedola, E. García, M. Rapetti, E. Rubulotta, B. Milanesio, A. Bisio, M.A. Cichierichetti, A. Lazarowski, V. A. Gómez
The red blood cell (RBC) pyruvate kinase deficiency (PKD) is the most common recessive congenital defect of glycolytic enzymes associated with non-spherocytic hemolytic anemia. It is a rare hereditary disorder caused by >300 variants in the PKLR gene. This is a retrospective study of 19 patients from different centers from Argentina with confirmed molecular diagnosis of PKD. Clinical follow-up was carried out from birth in most cases. Five consanguineous patients from “gypsy” community, were homozygous for the “PK-Gypsy deletion” (PK-Gd). During the neonatal period they developed anemia with icterus. Transfusion exchange was required in 60%, light therapy in 80%, and RBC transfusion in 80%. During the follow-up iron overload was detected in the 100%, cholecystectomy was indicated in 40%, and splenectomy in 60%. Thirteen cases had 2 missense variants (MS), being the Mediterranean variant (p.Arg486Trp) the more frequent detected (26%).Only 1 patient had a missense-splicing mutation combination. During the neonatal period, 86% had anemia and icterus. Light therapy was required in 78%, transfusion exchange in 21% and RBC transfusion in 64%. During the follow-up iron overload was detected in 57% and splenectomy was indicated in 43%. Transfusions (pre-splenectomy and post-splenectomy) were more required in PK-Gd cases as compared with patients with point mutations (100%/60% vs 71%/29% respectively). Our data indicates a high clinical-therapeutic-molecular heterogeneity in PKD patients with the PK-Gd group presenting the most severe cases.
{"title":"Multicenter Study of Pyruvate Kinase Deficiency in Argentina","authors":"C. Pepe, S. Eberle, H. Donato, N. Basack, M. T. Baña, M. Cedola, E. García, M. Rapetti, E. Rubulotta, B. Milanesio, A. Bisio, M.A. Cichierichetti, A. Lazarowski, V. A. Gómez","doi":"10.12974/2312-5411.2022.09.02","DOIUrl":"https://doi.org/10.12974/2312-5411.2022.09.02","url":null,"abstract":"The red blood cell (RBC) pyruvate kinase deficiency (PKD) is the most common recessive congenital defect of glycolytic enzymes associated with non-spherocytic hemolytic anemia. It is a rare hereditary disorder caused by >300 variants in the PKLR gene. This is a retrospective study of 19 patients from different centers from Argentina with confirmed molecular diagnosis of PKD. Clinical follow-up was carried out from birth in most cases. Five consanguineous patients from “gypsy” community, were homozygous for the “PK-Gypsy deletion” (PK-Gd). During the neonatal period they developed anemia with icterus. Transfusion exchange was required in 60%, light therapy in 80%, and RBC transfusion in 80%. During the follow-up iron overload was detected in the 100%, cholecystectomy was indicated in 40%, and splenectomy in 60%. Thirteen cases had 2 missense variants (MS), being the Mediterranean variant (p.Arg486Trp) the more frequent detected (26%).Only 1 patient had a missense-splicing mutation combination. During the neonatal period, 86% had anemia and icterus. Light therapy was required in 78%, transfusion exchange in 21% and RBC transfusion in 64%. During the follow-up iron overload was detected in 57% and splenectomy was indicated in 43%. Transfusions (pre-splenectomy and post-splenectomy) were more required in PK-Gd cases as compared with patients with point mutations (100%/60% vs 71%/29% respectively). Our data indicates a high clinical-therapeutic-molecular heterogeneity in PKD patients with the PK-Gd group presenting the most severe cases.","PeriodicalId":91541,"journal":{"name":"Journal of hematology research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42372234","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-10-14DOI: 10.12974/2312-5411.2021.08.4
T. Kalynychenko
Hematopoietic stem cell transplantation (HSCT) is a life-saving medical technology for many serious diseases. Active international exchange of transplant material is ensured through productive cooperation of world international donation, transplantation, cell therapy organizations, along with their associations. Analysis of the experience of many countries has allowed the development of key recommendations from the Worldwide Network for Blood and Marrow Transplantation for establishing HSCT programs. According to them, to make the most effective use of the capabilities of this medical technology, the creation of new transplant programs requires both sufficient investment and the presence of specialized professional teams for multidisciplinary support of the entire process. This article discusses prospects for the development of the national transplant program in Ukraine. In particular, the role of Ukrainian national scientific and practical traditions detailed in the creation of cellular processing technologies and cryopreservation as part of the team support providing components of transplantation medical technology. It is looked forward that the development of the HCST program in Ukraine will take place through continuous improvement in order to meet the criteria of the highest quality and safety. Its serious basis is the solid scientific traditions, historical and modern experience of many directions that provide the field.
{"title":"Multidisciplinary Development Issues of Hematopoietic Stem Cell Transplantation Program in Ukraine: Role of Auxiliary Cryopreservation Technologies","authors":"T. Kalynychenko","doi":"10.12974/2312-5411.2021.08.4","DOIUrl":"https://doi.org/10.12974/2312-5411.2021.08.4","url":null,"abstract":"Hematopoietic stem cell transplantation (HSCT) is a life-saving medical technology for many serious diseases. Active international exchange of transplant material is ensured through productive cooperation of world international donation, transplantation, cell therapy organizations, along with their associations. Analysis of the experience of many countries has allowed the development of key recommendations from the Worldwide Network for Blood and Marrow Transplantation for establishing HSCT programs. According to them, to make the most effective use of the capabilities of this medical technology, the creation of new transplant programs requires both sufficient investment and the presence of specialized professional teams for multidisciplinary support of the entire process. \u0000This article discusses prospects for the development of the national transplant program in Ukraine. In particular, the role of Ukrainian national scientific and practical traditions detailed in the creation of cellular processing technologies and cryopreservation as part of the team support providing components of transplantation medical technology. It is looked forward that the development of the HCST program in Ukraine will take place through continuous improvement in order to meet the criteria of the highest quality and safety. Its serious basis is the solid scientific traditions, historical and modern experience of many directions that provide the field.","PeriodicalId":91541,"journal":{"name":"Journal of hematology research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48290175","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-06-02DOI: 10.12974/2312-5411.2021.08.1
Anne H. Metzger, M. Anim, C. Johnson
Sickle cell disease is genetic red blood cell disorder transmitted via an autosomal recessive mutation due to valine replacing glutamicacid on the beta globulin chain of the hemoglobin molecule. The disease impacts millions of people worldwide majority living in sub-Saharan Africa and India and impacts approximately 100,000 Americans mostly those of African descent. [2-3] In 2019, two novel treatment agents for sickle cell anemia, crizanlizumab (Adakveo) and voxelotor (Oxbryta) were approved by the United States Food and Drug Administration (US FDA) [7, 8]. Both medications offer sickle cell patients improved control of their disease by reducing sickling of the red blood cells (voxelotor) and the painful effects of vaso-occlusive crises, (crizanlizumab). We studied the effects of crizanlizumab and voxelotor on a population of patients in a sickle cell clinic. Fifty-two charts were reviewed for inclusion in the study; 12 patients were using crizanlizumab and 12 patients were using voxelotor. Eight patients met criteria for evaluation of crizanlizumab and 7 patients for voxelotor. Of all data collected, the only significant difference between baseline measures and post-therapy measures was for voxelotor and hemoglobin levels at baseline and at 3 or more months post therapy. This was a small study which reflects the experience of one clinic; sickle cell providers must continue to address the social determinants of health, psychosocial and psychological needs of their patients in addition to prescribing these novel medications.
{"title":"Outcomes and Barriers to Use of Novel Sickle Cell Therapeutic Agents in a Community Health Center","authors":"Anne H. Metzger, M. Anim, C. Johnson","doi":"10.12974/2312-5411.2021.08.1","DOIUrl":"https://doi.org/10.12974/2312-5411.2021.08.1","url":null,"abstract":"Sickle cell disease is genetic red blood cell disorder transmitted via an autosomal recessive mutation due to valine replacing glutamicacid on the beta globulin chain of the hemoglobin molecule. The disease impacts millions of people worldwide majority living in sub-Saharan Africa and India and impacts approximately 100,000 Americans mostly those of African descent. [2-3] In 2019, two novel treatment agents for sickle cell anemia, crizanlizumab (Adakveo) and voxelotor (Oxbryta) were approved by the United States Food and Drug Administration (US FDA) [7, 8]. Both medications offer sickle cell patients improved control of their disease by reducing sickling of the red blood cells (voxelotor) and the painful effects of vaso-occlusive crises, (crizanlizumab). We studied the effects of crizanlizumab and voxelotor on a population of patients in a sickle cell clinic. Fifty-two charts were reviewed for inclusion in the study; 12 patients were using crizanlizumab and 12 patients were using voxelotor. Eight patients met criteria for evaluation of crizanlizumab and 7 patients for voxelotor. Of all data collected, the only significant difference between baseline measures and post-therapy measures was for voxelotor and hemoglobin levels at baseline and at 3 or more months post therapy. This was a small study which reflects the experience of one clinic; sickle cell providers must continue to address the social determinants of health, psychosocial and psychological needs of their patients in addition to prescribing these novel medications. ","PeriodicalId":91541,"journal":{"name":"Journal of hematology research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48298017","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-06-02DOI: 10.12974/2312-5411.2021.08.2
Flavia Anchielle Carvalho da Silva, A. L. Ferreira, L. Pimentel, Carlos Henrique Monteiro Maciel Lyra, M. F. Hazin-Costa, G. Guerra, A. Araújo, A. I. Souza
Hydroxyurea (HU) has been an effective treatment for sickle cell anemia (SCA) by inducing fetal hemoglobin production as well as reducing the rate of painful crisis. The use of HU during pregnancy still has been a concerned situation due to the risk of malformation, but there is already a proposal for the possibility of the use, even during pregnancy, depending on the situation of the disease. On the other side, the potential of HU for mutagenesis and teratogenesis in humans has not been confirmed yet. This case series describe the perinatal outcomes on women at a Women's Care Center in Recife, Brazil. Women used HU early in their pregnancies and no record of malformation was report. Our sample was composed of 13 SCA women using HU just before or during pregnancy. Of these women, 4 had gotten pregnant twice by using HU and for this we have analyzed a total of 17 cases. There were no reports on malformation in any of these cases. In the literature review, we found seven studies on the use of HU in pregnancy and only one of these studies reported malformation in a fetus. We concluded that HU usage and teratogenic effects has not been confirmed in humans yet and suggested to await results of well-controlled studies to define the use of HU as a treatment for vasooculsive crises during pregnancy. Thus, we consider that this publication could be added to other cases in which have been already published where fetal malformation has not been registered yet.
{"title":"The Use of Hydroxyurea During Pregnancy in Sickle Cell Anemia Women: A Case Series and Literature Review","authors":"Flavia Anchielle Carvalho da Silva, A. L. Ferreira, L. Pimentel, Carlos Henrique Monteiro Maciel Lyra, M. F. Hazin-Costa, G. Guerra, A. Araújo, A. I. Souza","doi":"10.12974/2312-5411.2021.08.2","DOIUrl":"https://doi.org/10.12974/2312-5411.2021.08.2","url":null,"abstract":"Hydroxyurea (HU) has been an effective treatment for sickle cell anemia (SCA) by inducing fetal hemoglobin production as well as reducing the rate of painful crisis. The use of HU during pregnancy still has been a concerned situation due to the risk of malformation, but there is already a proposal for the possibility of the use, even during pregnancy, depending on the situation of the disease. On the other side, the potential of HU for mutagenesis and teratogenesis in humans has not been confirmed yet. This case series describe the perinatal outcomes on women at a Women's Care Center in Recife, Brazil. Women used HU early in their pregnancies and no record of malformation was report. Our sample was composed of 13 SCA women using HU just before or during pregnancy. Of these women, 4 had gotten pregnant twice by using HU and for this we have analyzed a total of 17 cases. There were no reports on malformation in any of these cases. In the literature review, we found seven studies on the use of HU in pregnancy and only one of these studies reported malformation in a fetus. We concluded that HU usage and teratogenic effects has not been confirmed in humans yet and suggested to await results of well-controlled studies to define the use of HU as a treatment for vasooculsive crises during pregnancy. Thus, we consider that this publication could be added to other cases in which have been already published where fetal malformation has not been registered yet.","PeriodicalId":91541,"journal":{"name":"Journal of hematology research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43608551","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-06-02DOI: 10.12974/2312-5411.2021.08.3
Rina Kansal
The diagnosis of any genetic predisposition to any malignancy carries profound significance for the patient and the family, with implications for clinical management that differ from when there is no identifiable heritable cause. The presence of a genetic predisposition to develop hematologic neoplasms is under-recognized. Therefore, such genetic predisposition was added as a separate diagnosis in the diagnostic World Health Organization classification in 2016. Such genetic predisposition may occur in the absence of syndromic or physical signs; even a familial history may be absent in some individuals. Also, currently, surveillance guidelines for individuals who may harbor such a genetic predisposition but have not developed a malignancy are mostly limited to expert opinion. The application of genomic sequencing methods in clinical laboratories has allowed increased recognition of such germline predisposition. Very recently, evidence is beginning to emerge that sheds light on possible steps for progression to a myelodysplastic syndrome or acute myeloid leukemia. This article provides an overview of the clinical aspects of the inherited forms of bone marrow failure syndromes, myelodysplastic syndromes, and acute myeloid leukemia, including for germline mutated CEBPA, RUNXI, ANKRD26, ETV6, DDX41, GATA2, and SAMD9/9L genes. Considerations for diagnosis are discussed for individuals and families who harbor a genetic or familial predisposition to developing a myeloid malignancy with future perspectives.
{"title":"Germline Predisposition to Myeloid Neoplasms in Inherited Bone Marrow Failure Syndromes, Inherited Thrombocytopenias, Myelodysplastic Syndromes and Acute Myeloid Leukemia: Diagnosis and Progression to Malignancy","authors":"Rina Kansal","doi":"10.12974/2312-5411.2021.08.3","DOIUrl":"https://doi.org/10.12974/2312-5411.2021.08.3","url":null,"abstract":"The diagnosis of any genetic predisposition to any malignancy carries profound significance for the patient and the family, with implications for clinical management that differ from when there is no identifiable heritable cause. The presence of a genetic predisposition to develop hematologic neoplasms is under-recognized. Therefore, such genetic predisposition was added as a separate diagnosis in the diagnostic World Health Organization classification in 2016. Such genetic predisposition may occur in the absence of syndromic or physical signs; even a familial history may be absent in some individuals. Also, currently, surveillance guidelines for individuals who may harbor such a genetic predisposition but have not developed a malignancy are mostly limited to expert opinion. The application of genomic sequencing methods in clinical laboratories has allowed increased recognition of such germline predisposition. Very recently, evidence is beginning to emerge that sheds light on possible steps for progression to a myelodysplastic syndrome or acute myeloid leukemia. This article provides an overview of the clinical aspects of the inherited forms of bone marrow failure syndromes, myelodysplastic syndromes, and acute myeloid leukemia, including for germline mutated CEBPA, RUNXI, ANKRD26, ETV6, DDX41, GATA2, and SAMD9/9L genes. Considerations for diagnosis are discussed for individuals and families who harbor a genetic or familial predisposition to developing a myeloid malignancy with future perspectives. ","PeriodicalId":91541,"journal":{"name":"Journal of hematology research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46881548","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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