Thalassemia Reports最新文献_第4页

Molecular Heterogeneity of Hb H Disease in India 印度Hb H病的分子异质性

IF 0.3

Thalassemia Reports Pub Date : 2022-07-06 DOI: 10.3390/thalassrep12030012

Pallavi Thaker, N. Mahajan, M. Mukherjee, R. Colah

{"title":"Molecular Heterogeneity of Hb H Disease in India","authors":"Pallavi Thaker, N. Mahajan, M. Mukherjee, R. Colah","doi":"10.3390/thalassrep12030012","DOIUrl":"https://doi.org/10.3390/thalassrep12030012","url":null,"abstract":"Alpha thalassemia is an autosomal recessive disorder caused by large deletions and/or point mutations in the α- globin genes. Hemoglobin H (Hb H) disease is most frequently due to deletion of three of the four α globin genes associated with variable clinical severity depending on the genotype. There are few reports on Hb H disease in Indians where genotyping has been done and we have reviewed the molecular and clinical heterogeneity of these cases. An electronic search for relevant articles was conducted using two journal databases, i.e., PubMed and Science Direct using the key words “Hb H Disease”, “Hemoglobin H”, “α-thalassemia”, “mutations”, “molecular heterogeneity”, “case reports” and “India”. This review was performed based on preferred reporting items for the systematic review and meta-analysis protocols (PRISMA-P) guidelines. The molecular spectrum of Hb H disease in Indians includes the most common [-α3.7, -α4.2, --SA, Poly A (AATAAA→AATA--), Hb Sallanches], rare [--SEA, --MED, IVS 1nt 1 (G→A), Hb Koya Dora, Hb Sun Prairie], very rare [Hb Iberia, Hb Seal Rock, Hb Zürich-Albisrieden] and novel [Codon 76 (+T) and --Kol] α-globin gene mutations inherited largely as compound heterozygotes with considerable clinical variability. The molecular diagnosis of Hb H disease is important for genetic counseling and management.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2022-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46793590","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}

引用次数: 0

Direct Chromosomal Phasing: An Easy and Fast Approach for Broadening Prenatal Diagnostic Applicability 直接染色体分期:扩大产前诊断适用性的一种简单快速的方法

IF 0.3

Thalassemia Reports Pub Date : 2022-07-01 DOI: 10.3390/thalassrep12030011

S. Byrou, G. Christopoulos, Agathoklis Christofides, C. Makariou, Christiana Ioannou, M. Kleanthous, T. Papasavva

{"title":"Direct Chromosomal Phasing: An Easy and Fast Approach for Broadening Prenatal Diagnostic Applicability","authors":"S. Byrou, G. Christopoulos, Agathoklis Christofides, C. Makariou, Christiana Ioannou, M. Kleanthous, T. Papasavva","doi":"10.3390/thalassrep12030011","DOIUrl":"https://doi.org/10.3390/thalassrep12030011","url":null,"abstract":"The assignment of alleles to haplotypes in prenatal diagnostic assays has traditionally depended on family study analyses. However, this prevents the wide application of prenatal diagnosis based on haplotype analysis, especially in countries with dispersed populations. Here, we present an easy and fast approach using Droplet Digital PCR for the direct determination of haplotype blocks, overcoming the necessity for acquiring other family members’ genetic samples. We demonstrate this approach on nine families that were referred to our center for a prenatal diagnosis of β-thalassaemia using four highly polymorphic single nucleotide variations and the most common pathogenic β-thalassaemia variation in our population. Our approach resulted in the successful direct chromosomal phasing and haplotyping for all nine of the families analyzed, demonstrating a complete agreement with the haplotypes that are ascertained based on family trios. The clinical utility of this approach is envisaged to open the application of prenatal diagnosis for β-thalassaemia to all cases, while simultaneously providing a model for extending the prenatal diagnostic application of other monogenic diseases as well.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43250348","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}

引用次数: 0

Hb Mazandaran (α1) α51 Gly > Cys(CE9), c.154 GGC > TGC: A Novel Haemoglobin Variant of α1-Globin Gene Hb Mazandaran (α1) α51 Gly > Cys(CE9)， c.154TGC: α1-珠蛋白基因的一种新的血红蛋白变体

IF 0.3

Thalassemia Reports Pub Date : 2022-06-22 DOI: 10.3390/thalassrep12030010

H. Jalali, M. Mahdavi, Mahan Mahdavi, Adel Abbasi

引用次数: 1

The First Case of Haemophagocytic Lymphohistiocytosis Triggered by the Booster Dose of Anti-SARS-CoV-2 Vaccine in a Patient with β-Thalassemia 抗sars - cov -2疫苗加强剂量引发的首例β-地中海贫血患者嗜血淋巴组织细胞增多症

IF 0.3

Thalassemia Reports Pub Date : 2022-06-16 DOI: 10.3390/thalassrep12020009

G. Calvaruso, M. Chiavetta, D. Renda, S. Raso, F. Dieli, V. L. Lentini, M. Gentile, A. Carroccio, A. Maggio

引用次数: 1

The Effect of COVID-19 on Hemoglobinopathy Patients’ Daily Lives While Quarantined: Four Greek Hospitals’ Experiences 新冠肺炎对隔离期间血红蛋白病患者日常生活的影响:希腊四家医院的经验

IF 0.3

Thalassemia Reports Pub Date : 2022-06-06 DOI: 10.3390/thalassrep12020008

S. Delicou, A. Xydaki, K. Manganas, E. Koullias, L. Evliati, Chryssoula Kalkana, M. Diamantidis, Achilles Manafas, Marianna Katsatou, Leonidas Roumpatis, Theodoros Aforozis

{"title":"The Effect of COVID-19 on Hemoglobinopathy Patients’ Daily Lives While Quarantined: Four Greek Hospitals’ Experiences","authors":"S. Delicou, A. Xydaki, K. Manganas, E. Koullias, L. Evliati, Chryssoula Kalkana, M. Diamantidis, Achilles Manafas, Marianna Katsatou, Leonidas Roumpatis, Theodoros Aforozis","doi":"10.3390/thalassrep12020008","DOIUrl":"https://doi.org/10.3390/thalassrep12020008","url":null,"abstract":"During a pandemic, people are fearful of becoming infected with the virus, which causes anxiety, loss of purpose, and depression. This study aimed to evaluate the social and psychological impact, as well as the impact on homecare, of patients with hemoglobinopathies during the pandemic. Material and Methods: In total, 130 patients from four Thalassemia and Sickle Cell Disease Units of the National Health System of Greece Hospitals were examined via an anonymous questionnaire developed and distributed through stratified sampling. Results: Transfusion-dependent thalassemia, transfused sickle cell disease, and other hemoglobinopathies were represented by 130 patients. During the pandemic, the main concern of patients was the affordability of blood for transfusion. During the lockdown, patients’ moods varied, and their daily lives were disrupted by a lack of access to basic goods and communication with friends and family. Their eating habits, access to exercise, and, to a lesser extent, their financial situation have all been affected in their daily lives. It is crucial to highlight that while access to health services did not suffer in terms of medication and regular visits for their actual disease, it did suffer in terms of the systematic monitoring of complications.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2022-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46526400","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}

引用次数: 2

Peripheral Blood Erythrocyte Parameters in Β-Thalassemia Minor with Coexistent Iron Deficiency: Comparisons between Iron-Deficient and -Sufficient Carriers β-地中海贫血合并缺铁患者外周血红细胞参数：铁缺乏和铁充足携带者的比较

IF 0.3

Thalassemia Reports Pub Date : 2022-06-06 DOI: 10.3390/thalassrep12020007

D. Aslan, Şeyda Değermenci

{"title":"Peripheral Blood Erythrocyte Parameters in Β-Thalassemia Minor with Coexistent Iron Deficiency: Comparisons between Iron-Deficient and -Sufficient Carriers","authors":"D. Aslan, Şeyda Değermenci","doi":"10.3390/thalassrep12020007","DOIUrl":"https://doi.org/10.3390/thalassrep12020007","url":null,"abstract":"Changes in erythrocyte parameters are well known in both β-thalassemia minor (BTM) and iron deficiency (ID) when either is present alone; however, to our knowledge, there has been no study showing the changes when the two conditions coexist. We herein assessed erythrocyte parameters in BTM with coexistent ID. The BTM cases were divided into two groups based on ferritin levels as ID+ and ID−; the ID+ group was then further divided based on hemoglobin (Hb) levels as iron-deficient carriers with (IDA+) and without (IDA−) anemia. When compared to the ID− group, all parameters were significantly different in the IDA+ group except mean corpuscular volume (MCV) and red blood cells (RBC). All parameters except RBC were significantly different between the IDA+ and IDA− groups. Hb, hematocrit (Hct), MCV, and mean corpuscular hemoglobin (MCH) levels in the IDA− group were found to be lower than in the ID− group. Changes in erythrocyte parameters in iron-deficient carriers are critical in screening for BT, particularly for correct formulation of mathematical algorithms utilized by artificial intelligence programs.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2022-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42447412","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}

引用次数: 1

Post-COVID-19 Lymphocytopenia and Opportunistic Pathogens Infection in a Thalassemia Major Patient 一例地中海贫血患者COVID-19后淋巴细胞减少和机会性病原体感染

IF 0.3

Thalassemia Reports Pub Date : 2022-04-29 DOI: 10.3390/thalassrep12020006

A. Petrungaro, E. Quartarone, P. Sciarrone, L. Rigoli

引用次数: 0

Publisher’s Note: Page Numbers Changed to Article Numbers for Articles Published in Thalassemia Reports Volumes 1–11 出版商注:页码更改为文章编号发表在地中海贫血报告卷1-11

IF 0.3

Thalassemia Reports Pub Date : 2022-02-23 DOI: 10.3390/thalassrep12010005

引用次数: 0

Random Forest Clustering Identifies Three Subgroups of β-Thalassemia with Distinct Clinical Severity 随机森林聚类识别具有不同临床严重程度的β-地中海贫血的三个亚组

IF 0.3

Thalassemia Reports Pub Date : 2022-02-18 DOI: 10.3390/thalassrep12010004

Angela Vitrano, K. Musallam, A. Meloni, Sebastiano Addario Pollina, M. Karimi, A. El‐Beshlawy, M. Hajipour, V. Di Marco, S. Ansari, A. Filosa, P. Ricchi, A. Ceci, S. Daar, E. Vlachaki, S. Singer, Z. Naserullah, A. Pepe, S. Scondotto, G. Dardanoni, F. Bonifazi, V. Sankaran, E. Vichinsky, A. Taher, A. Maggio

{"title":"Random Forest Clustering Identifies Three Subgroups of β-Thalassemia with Distinct Clinical Severity","authors":"Angela Vitrano, K. Musallam, A. Meloni, Sebastiano Addario Pollina, M. Karimi, A. El‐Beshlawy, M. Hajipour, V. Di Marco, S. Ansari, A. Filosa, P. Ricchi, A. Ceci, S. Daar, E. Vlachaki, S. Singer, Z. Naserullah, A. Pepe, S. Scondotto, G. Dardanoni, F. Bonifazi, V. Sankaran, E. Vichinsky, A. Taher, A. Maggio","doi":"10.3390/thalassrep12010004","DOIUrl":"https://doi.org/10.3390/thalassrep12010004","url":null,"abstract":"In this work, we aimed to establish subgroups of clinical severity in a global cohort of β-thalassemia through unsupervised random forest (RF) clustering. We used a large global dataset of 7910 β-thalassemia patients and evaluated 19 indicators of phenotype severity (IPhS) to determine their contribution and relatedness in grouping β-thalassemia patients into clusters using RF analysis. RF clustering suggested that three clusters with minimal overlapping exist (classification error rate: 4.3%), and six important IPhS were identified: the current age of the patient, the mean serum ferritin level, the age at diagnosis, the age at first transfusion, the age at first iron chelation, and the number of complications. Cluster 3 represented patients with early initiation of transfusion and iron chelation, considerable iron overload, and early mortality from heart failure. Patients in Cluster 2 had lower serum ferritin levels, although they had a higher number of complications manifesting overtime. Patients in Cluster 1 represented a subgroup with delayed or absent transfusion and iron chelation, but with a high morbidity rate. Hepatic disease and cancer were dominant causes of death in patients in Cluster 1 and 2. Our findings established that patients with β-thalassemia can be clustered into three groups based on six parameters of phenotype severity.","PeriodicalId":22261,"journal":{"name":"Thalassemia Reports","volume":" ","pages":""},"PeriodicalIF":0.3,"publicationDate":"2022-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46913582","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}

引用次数: 3

The New Voice for the New Era of Thalassemia Reports 地中海贫血新时代的新声音报告

IF 0.3

Thalassemia Reports Pub Date : 2022-01-13 DOI: 10.3390/thalassrep12010003

A. Maggio

引用次数: 0