Pub Date : 2021-12-31DOI: 10.23937/2469-5696/1410072
Chong Siew Lian, Asnawi Asral Wirda AHMAD, Law Kian Boon, Hamzah Roszymah, MuiTAN Sen
The Sysmex XN-3000 is a new automated haematology analyser designed to improve the accuracy of cell counts and the specificity of the flagging events of unusual parameters. By comparing the previous full blood count (FBC) reference intervals in Malaysia for Sysmex XE5000, we determined a reference interval for all parameters measured by the Sysmex XN-3000 for the Malaysian population. Through the voluntary recruitment of 397 adults ages 18-45 years, both genders, and the three main ethnic groups, FBC was performed on the two analysers. Qualified healthy participants were screened using a health questionnaire. This was followed by reference intervals, probability distribution measurements, and dispersion with point estimate determination. Complete data were available in 390 subjects comprising 222 females and 168 males, which were included in the reference interval calculation. Parameters such as haemoglobin, red blood cell count, platelet count including immature platelet fraction (IPF) showed significant differences in Malaysians. XN-3000 showed excellent precision and linearity results. Withinand between-run precisions were met for all parameters tested, except for IPF. For all parameters tested, ≤ 0.5% carry-over was seen. An acceptable correlation with both XN-3000 and XE-5000 was achieved in comparison studies performed. XN-3000 showed good analytical performance and could provide a solution for laboratories with medium-to-high workloads and evolving clinical needs. Local guidelines are required for the establishment of reference intervals.
{"title":"Reference Intervals in Malaysia: A Performance Evaluation and Comparison of Haematological Parameters between Sysmex Xe-5000 and Xn-3000","authors":"Chong Siew Lian, Asnawi Asral Wirda AHMAD, Law Kian Boon, Hamzah Roszymah, MuiTAN Sen","doi":"10.23937/2469-5696/1410072","DOIUrl":"https://doi.org/10.23937/2469-5696/1410072","url":null,"abstract":"The Sysmex XN-3000 is a new automated haematology analyser designed to improve the accuracy of cell counts and the specificity of the flagging events of unusual parameters. By comparing the previous full blood count (FBC) reference intervals in Malaysia for Sysmex XE5000, we determined a reference interval for all parameters measured by the Sysmex XN-3000 for the Malaysian population. Through the voluntary recruitment of 397 adults ages 18-45 years, both genders, and the three main ethnic groups, FBC was performed on the two analysers. Qualified healthy participants were screened using a health questionnaire. This was followed by reference intervals, probability distribution measurements, and dispersion with point estimate determination. Complete data were available in 390 subjects comprising 222 females and 168 males, which were included in the reference interval calculation. Parameters such as haemoglobin, red blood cell count, platelet count including immature platelet fraction (IPF) showed significant differences in Malaysians. XN-3000 showed excellent precision and linearity results. Withinand between-run precisions were met for all parameters tested, except for IPF. For all parameters tested, ≤ 0.5% carry-over was seen. An acceptable correlation with both XN-3000 and XE-5000 was achieved in comparison studies performed. XN-3000 showed good analytical performance and could provide a solution for laboratories with medium-to-high workloads and evolving clinical needs. Local guidelines are required for the establishment of reference intervals.","PeriodicalId":92793,"journal":{"name":"International journal of blood research and disorders","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49322010","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 : 2021-09-29DOI: 10.23937/2469-5696/1410069
Dassanayake Dmhmk, Gunawardena Vcp, Athauda Sb
Background: HamoglobinE (HbE) is the second commonest structural haemoglobin variant and results from mutation in the β globin gene causing substitution of glutamic acid for lysine at position 26 of the β globin chain. When coinherited with β Thalassemia it becomes a major health burden. Objective: To assess the effectiveness of red cell parameters as a screening tool to identify haemoglobin E traits and to develop a score using red cell parameters which help to identify Haemoglobin E traits in population screening. Materials and methods: The study was carried out on 25 Haemoglobin E trait and 25 controls between 20 to 64 years of age. In all the participants’ full blood count analysis and Haemoglobin variant analysis were done. Participants were selected after excluding all factors which affect red cell indices such as iron deficiency, vitamin B12 and folate deficiency, pregnancy, liver disease, hypothyroidism, chronic alcohol consumption, Diabetes mellitus, Metformin treatment and recent blood transfusion. Comparative analysis of all haematological parameters done between two groups separately for males and females. Results: For cases of Haemoglobin E traits the overall mean Haemoglobin A was 67.9 ± 6.4%, Haemoglobin E 27.3 ± 3.7%, Haemoglobin F 0.3 ± 1.1%, Haemoglobin A2 2.6 ± 3.1%, RCC 5.03 ± 0.89 × 1012/L, Haemoglobin 12.6 ± 1.9 g/dl, MCV 77.4 ± 9.4 fl, MCH 25.4 ± 3.9 pg, MCHC 32.9 ± 2.1 g/dl, RDW 14.21 ± 4%. Between Haemoglobin E traits and normal controls following haematological parameters showed statistically significant difference. Haemoglobin E (p = 4.83 × 10-53), Haemoglobin A (p = 2.61 × 10-41), Haemoglobin F (p = 0.01), Haemoglobin (p = 0.042), Red cell count (p = 0.001), MCV (p = 4.890 × 10-12), MCH (p = 5.5 x 10-13), RDW (p = 0.007). Haemoglobin E percentage showed statistically significant positive correlation with following red cell parameters. Hb E and Red cell count (r = 0.445, t test 0.001), Hb E and Red cell distribution width (r = 0.345, t test 0.014). Haemoglobin E percentage showed statistically significant negative correlation with following indices. Hb E and MCV (r = (-) 0.76, t test 0.000) Hb E and MCH (r = (-)719, t test 0.000). Correlation of Haemoglobin E percentage with MCHC and Haemoglobin were not statistically significant (r = (-) 0.251, t test 0.078) and (r = (-)0.116, t test 0.424). In addition Hb E percentage negatively correlated with Hb A percentage (r = (-)0.917, t test 0.000) and positively correlated with Hb A2 percentage (r = 0.286, t test 0.044), and Hb F percentage (r = 0.366, t test 0.009). Sensitivity of a score as above to select patients for screening, using a cut off score of 2 or above for females and a score of 3 or above for males was 84%. Specificity was 100%. This is higher than if using the current criteria. If people with red cell count > 5 × 1012/L were also selected sensitivity would increase up to 84%, and negative predictive value to 86%. Conclusion: Even when MCV and MCH are normal, p
{"title":"Assessment of the Usefulness of Red Cell Indices as a Screening Tool in Haemoglobin E Trait: A Cross Sectional Study","authors":"Dassanayake Dmhmk, Gunawardena Vcp, Athauda Sb","doi":"10.23937/2469-5696/1410069","DOIUrl":"https://doi.org/10.23937/2469-5696/1410069","url":null,"abstract":"Background: HamoglobinE (HbE) is the second commonest structural haemoglobin variant and results from mutation in the β globin gene causing substitution of glutamic acid for lysine at position 26 of the β globin chain. When coinherited with β Thalassemia it becomes a major health burden. Objective: To assess the effectiveness of red cell parameters as a screening tool to identify haemoglobin E traits and to develop a score using red cell parameters which help to identify Haemoglobin E traits in population screening. Materials and methods: The study was carried out on 25 Haemoglobin E trait and 25 controls between 20 to 64 years of age. In all the participants’ full blood count analysis and Haemoglobin variant analysis were done. Participants were selected after excluding all factors which affect red cell indices such as iron deficiency, vitamin B12 and folate deficiency, pregnancy, liver disease, hypothyroidism, chronic alcohol consumption, Diabetes mellitus, Metformin treatment and recent blood transfusion. Comparative analysis of all haematological parameters done between two groups separately for males and females. Results: For cases of Haemoglobin E traits the overall mean Haemoglobin A was 67.9 ± 6.4%, Haemoglobin E 27.3 ± 3.7%, Haemoglobin F 0.3 ± 1.1%, Haemoglobin A2 2.6 ± 3.1%, RCC 5.03 ± 0.89 × 1012/L, Haemoglobin 12.6 ± 1.9 g/dl, MCV 77.4 ± 9.4 fl, MCH 25.4 ± 3.9 pg, MCHC 32.9 ± 2.1 g/dl, RDW 14.21 ± 4%. Between Haemoglobin E traits and normal controls following haematological parameters showed statistically significant difference. Haemoglobin E (p = 4.83 × 10-53), Haemoglobin A (p = 2.61 × 10-41), Haemoglobin F (p = 0.01), Haemoglobin (p = 0.042), Red cell count (p = 0.001), MCV (p = 4.890 × 10-12), MCH (p = 5.5 x 10-13), RDW (p = 0.007). Haemoglobin E percentage showed statistically significant positive correlation with following red cell parameters. Hb E and Red cell count (r = 0.445, t test 0.001), Hb E and Red cell distribution width (r = 0.345, t test 0.014). Haemoglobin E percentage showed statistically significant negative correlation with following indices. Hb E and MCV (r = (-) 0.76, t test 0.000) Hb E and MCH (r = (-)719, t test 0.000). Correlation of Haemoglobin E percentage with MCHC and Haemoglobin were not statistically significant (r = (-) 0.251, t test 0.078) and (r = (-)0.116, t test 0.424). In addition Hb E percentage negatively correlated with Hb A percentage (r = (-)0.917, t test 0.000) and positively correlated with Hb A2 percentage (r = 0.286, t test 0.044), and Hb F percentage (r = 0.366, t test 0.009). Sensitivity of a score as above to select patients for screening, using a cut off score of 2 or above for females and a score of 3 or above for males was 84%. Specificity was 100%. This is higher than if using the current criteria. If people with red cell count > 5 × 1012/L were also selected sensitivity would increase up to 84%, and negative predictive value to 86%. Conclusion: Even when MCV and MCH are normal, p","PeriodicalId":92793,"journal":{"name":"International journal of blood research and disorders","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49642727","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 : 2021-09-22DOI: 10.23937/2469-5696/1410068
Kong Ling-ming, Zhuang Xiao-li, Zhang Li-yi
Objectives: This study aimed to investigate the diagnostic value of peripheral microRNA (miRNA) expression in schizophrenia (SZ). Methods: By using an Affymetrix array to identify differentially expressed miRNAs in SZ patients; quantitative real-time reverse transcription polymerase chain reaction (qRT-PCR) was used to verify identified microRNA and test major depressive disorder (MDD), generalized anxiety disorder (GAD) and mental retardation (MD) related microRNAs for comparison. Results: The expression levels of miR-1972, miR-26b, miR-4485, miR-4498 and miR-4743 were up-regulated significantly in MDD patients, among which the expression levels of miR-26b, miR-4485 and miR-4743 were also upregulated significantly in GAD patients, and miR-4485 and miR-4743 upregulated in MD patients; The ROC curve of miR-26b in SZ patients showed that its sensitivity and specificity for diagnosis were 0.721 and 0.950 respectively with the area under curve (AUC) being 0.868; the ROC of miR-26b for SZ and MD differentiation showed that its sensitivity and specificity were 0.78 and 0.65 respectively with AUC being 0.765; the ROC of miR-26b for SZ and GAD differentiation showed that its sensitivity and specificity were 0.667 and 0.825 respectively with AUC being 0.802; the ROC of miR-26b for SZ and MDD differentiation showed that its sensitivity and specificity were 0.537 and 0.675 respectively with AUC being 0.629. Conclusions: MiR-26b might have significant diagnostic value for SZ, and probably also serve a significant role in MDD.
{"title":"Diagnostic Value of miR-26b in Schizophrenia","authors":"Kong Ling-ming, Zhuang Xiao-li, Zhang Li-yi","doi":"10.23937/2469-5696/1410068","DOIUrl":"https://doi.org/10.23937/2469-5696/1410068","url":null,"abstract":"Objectives: This study aimed to investigate the diagnostic value of peripheral microRNA (miRNA) expression in schizophrenia (SZ). Methods: By using an Affymetrix array to identify differentially expressed miRNAs in SZ patients; quantitative real-time reverse transcription polymerase chain reaction (qRT-PCR) was used to verify identified microRNA and test major depressive disorder (MDD), generalized anxiety disorder (GAD) and mental retardation (MD) related microRNAs for comparison. Results: The expression levels of miR-1972, miR-26b, miR-4485, miR-4498 and miR-4743 were up-regulated significantly in MDD patients, among which the expression levels of miR-26b, miR-4485 and miR-4743 were also upregulated significantly in GAD patients, and miR-4485 and miR-4743 upregulated in MD patients; The ROC curve of miR-26b in SZ patients showed that its sensitivity and specificity for diagnosis were 0.721 and 0.950 respectively with the area under curve (AUC) being 0.868; the ROC of miR-26b for SZ and MD differentiation showed that its sensitivity and specificity were 0.78 and 0.65 respectively with AUC being 0.765; the ROC of miR-26b for SZ and GAD differentiation showed that its sensitivity and specificity were 0.667 and 0.825 respectively with AUC being 0.802; the ROC of miR-26b for SZ and MDD differentiation showed that its sensitivity and specificity were 0.537 and 0.675 respectively with AUC being 0.629. Conclusions: MiR-26b might have significant diagnostic value for SZ, and probably also serve a significant role in MDD.","PeriodicalId":92793,"journal":{"name":"International journal of blood research and disorders","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49386309","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 : 2021-08-28DOI: 10.23937/2469-5696/1410067
Teresa Rubio-Tomás
SMYD2 is one of the five members (SMYD1-5) of the Su(Var)3-9, Enhancer-of-zeste and Trithorax (SET) and Myeloid, Nervy, and DEAF-1 (MYND) domain-containing (SMYD) protein family and is it known to methylate histone and non-histone substrates. By methylating a wide range of targets, SMYD2 acts as an oncogene in most cancer types. In this review I will comment on the last publications related to the role of SMYD2 in leukemia and I will refer to more extensive reviews if the reader aims to have a broader picture of the state of the art. *Corresponding author: Teresa Rubio-Tomás, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; School of Medicine, University of Crete, Crete, Greece Check for updates SMYD2 Promotes Leukemia Progression Remarkably, SMYD2 is not only involved in leukemia, but also normal lineage differentiation of hematopoietic stem cells, since mice lacking SMYD2 specifically in hematopoietic stem cells displayed aberrant lymphocyte development. Regarding leukemia, these SMYD2 knockout mice had a high rate of apoptosis and showed loss of anchorage-independent transformation of leukemia cells [1]. In line with these observations, the authors detected overexpression of SMYD2 in many types of human leukemia [1]. Even residual expression of SMYD2 (and SMYD3) can promote chronic lymphocytic leukemia, probably due to the acquisition of complex karyotype [2]. Zipin-Roitman, et al. observed that decreased expression of SMYD2 leads to overexpression of SET7/9, indicating some kind of interplay between these two methyl transferases, that results in higher resistance to DNA damage of leukemia cells [3]. In addition, SMYD2 seemed to be downstream of MYC in acute myeloid leukemia [4]. ISSN: 2469-5696 DOI: 10.23937/2469-5696/1410067 Tomás. Int J Blood Res Disord 2021, 8:067 • Page 2 of 2 • 5. Ping Z, Ruan JF, Weng W, Tang Y (2020) Overexpression of SET and MYND domain-containing protein 2 (SMYD2) is associated with poor prognosis in pediatric b lineage acute lymphoblastic leukemia. Leuk Lymphoma 61: 437-444. 6. Sakamoto LHT, Andrade RV, Felipe MSS, Motoyama AB, Silva FP, et al. (2014) SMYD2 is highly expressed in pediatric acute lymphoblastic leukemia and constitutes a bad prognostic factor. Leuk Res 38: 496-502. 7. Xin Y, Jiang XJ, Fang ZM (2019) HSistone methyltransferase SMYD2: Ubiquitous regulator of disease. Clinical Epigenetics 11: 112. 8. Edoardo F, Manoni E, Ferroni C, Del Rio A, Bartolini M (2019) Small-molecule inhibitors of lysine methyltransferases SMYD2 and SMYD3: Current trends. Future Medicinal Chemistry 11: 901-921. 9. Teresa R-T (2021) The SMYD family proteins in immunology: An update of their obvious and non-obvious relations with the immune system. Heliyon 7: e07387.
SMYD2是Su（Var）3-9的五个成员（SMYD1-5）之一，它是组氨酸和三酮的增强剂（SET）和含髓、Nervy和DEAF-1（MYND）结构域（SMYD）蛋白家族的成员之一，已知它能使组蛋白和非组蛋白底物甲基化。SMYD2通过甲基化多种靶点，在大多数癌症类型中起到癌基因的作用。在这篇综述中，我将评论与SMYD2在白血病中的作用有关的最新出版物，如果读者想更广泛地了解最新技术，我将参考更广泛的综述。*通讯作者：Teresa Rubio Tomás，Institut d’Investigacions Biomèdiques August Pi I Sunyer（IDIPAPS），西班牙巴塞罗那；希腊克里特岛克里特大学医学院查看最新消息SMYD2促进白血病进展值得注意的是，SMYD2不仅与白血病有关，而且与造血干细胞的正常谱系分化有关，因为在造血干细胞中缺乏SMYD2的小鼠表现出异常的淋巴细胞发育。关于白血病，这些SMYD2敲除小鼠具有高的细胞凋亡率，并且显示出白血病细胞的锚定非依赖性转化的丧失[1]。根据这些观察结果，作者在许多类型的人类白血病中检测到SMYD2的过度表达[1]。即使SMYD2（和SMYD3）的残留表达也可能促进慢性淋巴细胞白血病，这可能是由于获得了复杂的核型[2]。Zipin Roitman等人观察到，SMYD2表达的减少导致SET7/9的过度表达，表明这两种甲基转移酶之间存在某种相互作用，从而导致白血病细胞对DNA损伤具有更高的抵抗力[3]。此外，在急性髓系白血病中，SMYD2似乎是MYC的下游[4]。ISSN:2469-5696 DOI:10.23937/2469-5696/141067托马斯。Int J Blood Res Disord 2021，8:067•第2页，共2页•5。Ping Z，Ruan JF，Weng W，Tang Y（2020）SET和MYND结构域含蛋白2（SMYD2）的过表达与儿童b谱系急性淋巴细胞白血病的不良预后相关。白血病61:437-444。6.Sakamoto LHT、Andrade RV、Felipe MSS、Motoyama AB、Silva FP等人（2014）SMYD2在儿童急性淋巴细胞白血病中高度表达，并构成不良预后因素。Leuk Res 38:496-502。7、辛勇，姜新军，方ZM（2019）高丝氨酸甲基转移酶SMYD2：疾病的普遍调节因子。临床表观遗传学11:112。8.Edoardo F，Manoni E，Ferroni C，Del Rio A，Bartolini M（2019）赖氨酸甲基转移酶SMYD2和SMYD3的小分子抑制剂：当前趋势。《未来药物化学》11:901-921。9.Teresa R-T（2021）免疫学中的SMYD家族蛋白：它们与免疫系统的明显和非明显关系的更新。Heliyon 7:e07387。
{"title":"SMYD2 in Leukemia: An Update","authors":"Teresa Rubio-Tomás","doi":"10.23937/2469-5696/1410067","DOIUrl":"https://doi.org/10.23937/2469-5696/1410067","url":null,"abstract":"SMYD2 is one of the five members (SMYD1-5) of the Su(Var)3-9, Enhancer-of-zeste and Trithorax (SET) and Myeloid, Nervy, and DEAF-1 (MYND) domain-containing (SMYD) protein family and is it known to methylate histone and non-histone substrates. By methylating a wide range of targets, SMYD2 acts as an oncogene in most cancer types. In this review I will comment on the last publications related to the role of SMYD2 in leukemia and I will refer to more extensive reviews if the reader aims to have a broader picture of the state of the art. *Corresponding author: Teresa Rubio-Tomás, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; School of Medicine, University of Crete, Crete, Greece Check for updates SMYD2 Promotes Leukemia Progression Remarkably, SMYD2 is not only involved in leukemia, but also normal lineage differentiation of hematopoietic stem cells, since mice lacking SMYD2 specifically in hematopoietic stem cells displayed aberrant lymphocyte development. Regarding leukemia, these SMYD2 knockout mice had a high rate of apoptosis and showed loss of anchorage-independent transformation of leukemia cells [1]. In line with these observations, the authors detected overexpression of SMYD2 in many types of human leukemia [1]. Even residual expression of SMYD2 (and SMYD3) can promote chronic lymphocytic leukemia, probably due to the acquisition of complex karyotype [2]. Zipin-Roitman, et al. observed that decreased expression of SMYD2 leads to overexpression of SET7/9, indicating some kind of interplay between these two methyl transferases, that results in higher resistance to DNA damage of leukemia cells [3]. In addition, SMYD2 seemed to be downstream of MYC in acute myeloid leukemia [4]. ISSN: 2469-5696 DOI: 10.23937/2469-5696/1410067 Tomás. Int J Blood Res Disord 2021, 8:067 • Page 2 of 2 • 5. Ping Z, Ruan JF, Weng W, Tang Y (2020) Overexpression of SET and MYND domain-containing protein 2 (SMYD2) is associated with poor prognosis in pediatric b lineage acute lymphoblastic leukemia. Leuk Lymphoma 61: 437-444. 6. Sakamoto LHT, Andrade RV, Felipe MSS, Motoyama AB, Silva FP, et al. (2014) SMYD2 is highly expressed in pediatric acute lymphoblastic leukemia and constitutes a bad prognostic factor. Leuk Res 38: 496-502. 7. Xin Y, Jiang XJ, Fang ZM (2019) HSistone methyltransferase SMYD2: Ubiquitous regulator of disease. Clinical Epigenetics 11: 112. 8. Edoardo F, Manoni E, Ferroni C, Del Rio A, Bartolini M (2019) Small-molecule inhibitors of lysine methyltransferases SMYD2 and SMYD3: Current trends. Future Medicinal Chemistry 11: 901-921. 9. Teresa R-T (2021) The SMYD family proteins in immunology: An update of their obvious and non-obvious relations with the immune system. Heliyon 7: e07387.","PeriodicalId":92793,"journal":{"name":"International journal of blood research and disorders","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47129716","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 : 2021-01-01DOI: 10.23937/2469-5696/1410066
R. Gomes
Thalassemia refers to a group of inherited diseases characterized by decreased or absent synthesis of normal globin chains. The direct consequence is an imbalance of the alpha and beta globin chain synthesis that results in anemia from ineffective erythropoiesis and hemolysis. The term thalassemia major refers to the severe form that is often associated with life-long transfusion dependent anemia. Hypogonadism is the most frequently reported endocrine complication, affecting 70-80% of thalassemia major patients. Hypogonadism is likely to be caused by hypertransfusion therapy resulting in iron deposits in the gonads, pituitary gland or both. However, hypogonadotropic hypogonadism resulting from iron deposition in the pituitary gonadotrope is more commonly found. Gonadal iron deposition in ovaries or testes occurs less frequently, as the majority of amenorrheic women can still ovulate after hormonal treatment. Despite recent advances in iron chelation therapy, excess iron overload in pituitary gonadotropic cells remains one of the major problems in thalassemic patients. Hypogonadism, mostly hypogonadotropic hypogonadism, is usually detected during puberty. Early diagnosis and treatment are crucial for normal pubertal development and to reduce the complications of hypogonadism. The risks and benefits of hormonal replacement therapy, especially regarding the thromboembolic event, remain a challenge for providers caring for thalassemic patients. We hereby present a case of 15-year-old unmarried girl with thalassemia major presenting with primary amenorrhea and poorly developed secondary sexual characteristics. A thorough history, clinical examination, laboratory and radiological investigations were conducted. These tests confirmed the diagnosis of hypogonadotropic hypogonadism. Patient was started on hormone replacement therapy. She is on regular follow-up and compliant with her treatment.
{"title":"Hypogonadotropic Hypogonadism in a Female Patient with Thalassemia Major","authors":"R. Gomes","doi":"10.23937/2469-5696/1410066","DOIUrl":"https://doi.org/10.23937/2469-5696/1410066","url":null,"abstract":"Thalassemia refers to a group of inherited diseases characterized by decreased or absent synthesis of normal globin chains. The direct consequence is an imbalance of the alpha and beta globin chain synthesis that results in anemia from ineffective erythropoiesis and hemolysis. The term thalassemia major refers to the severe form that is often associated with life-long transfusion dependent anemia. Hypogonadism is the most frequently reported endocrine complication, affecting 70-80% of thalassemia major patients. Hypogonadism is likely to be caused by hypertransfusion therapy resulting in iron deposits in the gonads, pituitary gland or both. However, hypogonadotropic hypogonadism resulting from iron deposition in the pituitary gonadotrope is more commonly found. Gonadal iron deposition in ovaries or testes occurs less frequently, as the majority of amenorrheic women can still ovulate after hormonal treatment. Despite recent advances in iron chelation therapy, excess iron overload in pituitary gonadotropic cells remains one of the major problems in thalassemic patients. Hypogonadism, mostly hypogonadotropic hypogonadism, is usually detected during puberty. Early diagnosis and treatment are crucial for normal pubertal development and to reduce the complications of hypogonadism. The risks and benefits of hormonal replacement therapy, especially regarding the thromboembolic event, remain a challenge for providers caring for thalassemic patients. We hereby present a case of 15-year-old unmarried girl with thalassemia major presenting with primary amenorrhea and poorly developed secondary sexual characteristics. A thorough history, clinical examination, laboratory and radiological investigations were conducted. These tests confirmed the diagnosis of hypogonadotropic hypogonadism. Patient was started on hormone replacement therapy. She is on regular follow-up and compliant with her treatment.","PeriodicalId":92793,"journal":{"name":"International journal of blood research and disorders","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68748349","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 : 2020-07-02DOI: 10.22541/au.159373075.58159098
C. Malaval, M. Queudeville, Michaela D ring, U. Hartmann, P. Lang, R. Handgretinger, M. Ebinger
Background: Leukemia in children has a good prognosis with an overall cure rate of 85% in pediatric patients with acute lymphoblastic leukemia and 50-60% in pediatric patients with acute myeloid leukemia. Nevertheless in patients with refractory or relapsed leukemia the prognosis is limited and can only be cured by a salvage chemotherapy, in most cases followed by an allogeneic hematopoietic stem cell transplantation. Methods: In this retrospective case cohort ananlysis we investigated the outcome of eight patients with relapsed or refractory acute myeloid (n=2), lymphoblastic (n=4), biphenotypic (n=1) leukemia or T-lymphoblastic lymphoma (n=1) who failed to respond to standard salvage regimens. They received a salvage therapy with melphalan and cytarabine at our institution between 2015 and 2019. Results: After salvage chemotherapy with melphalan and cytarabine 63% of the patients achieved a remission of the disease and qualified for subsequent allogeneic hematopoietic stem cell transplantation. The one year overall survival rate was 50%, the three year overall survival rate was 29%. 25% of patients experienced a temporary period of fever and SIRS. Conclusions: The reported results of our case cohort analysis indicate that a salvage therapy with melphalan and cytarabine in relapsed or refractory leukemia could represent a curative approach with the possibility of achieving remission and subsequent allogeneic hematopoietic stem cell transplantation. Future multicentre studies are needed to verify the here presented results.
{"title":"Melphalan and cytarabine as a salvage therapy in children with relapsed or refractory acute leukemia","authors":"C. Malaval, M. Queudeville, Michaela D ring, U. Hartmann, P. Lang, R. Handgretinger, M. Ebinger","doi":"10.22541/au.159373075.58159098","DOIUrl":"https://doi.org/10.22541/au.159373075.58159098","url":null,"abstract":"Background: Leukemia in children has a good prognosis with an overall cure rate of 85% in pediatric patients with acute lymphoblastic leukemia and 50-60% in pediatric patients with acute myeloid leukemia. Nevertheless in patients with refractory or relapsed leukemia the prognosis is limited and can only be cured by a salvage chemotherapy, in most cases followed by an allogeneic hematopoietic stem cell transplantation. Methods: In this retrospective case cohort ananlysis we investigated the outcome of eight patients with relapsed or refractory acute myeloid (n=2), lymphoblastic (n=4), biphenotypic (n=1) leukemia or T-lymphoblastic lymphoma (n=1) who failed to respond to standard salvage regimens. They received a salvage therapy with melphalan and cytarabine at our institution between 2015 and 2019. Results: After salvage chemotherapy with melphalan and cytarabine 63% of the patients achieved a remission of the disease and qualified for subsequent allogeneic hematopoietic stem cell transplantation. The one year overall survival rate was 50%, the three year overall survival rate was 29%. 25% of patients experienced a temporary period of fever and SIRS. Conclusions: The reported results of our case cohort analysis indicate that a salvage therapy with melphalan and cytarabine in relapsed or refractory leukemia could represent a curative approach with the possibility of achieving remission and subsequent allogeneic hematopoietic stem cell transplantation. Future multicentre studies are needed to verify the here presented results.","PeriodicalId":92793,"journal":{"name":"International journal of blood research and disorders","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48886042","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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