Thalassemia Reports最新文献

β-Thalassemia in Bangladesh: Current Status and Future Perspectives 孟加拉国的 β-地中海贫血症：现状与未来展望

Thalassemia Reports Pub Date : 2024-07-08 DOI: 10.3390/thalassrep14030007

Arnob Mitro, Didar Hossain, Md Muhibur Rahman, Beauty Dam, M. J. Hosen

{"title":"β-Thalassemia in Bangladesh: Current Status and Future Perspectives","authors":"Arnob Mitro, Didar Hossain, Md Muhibur Rahman, Beauty Dam, M. J. Hosen","doi":"10.3390/thalassrep14030007","DOIUrl":"https://doi.org/10.3390/thalassrep14030007","url":null,"abstract":"β-thalassemia, a life-threatening inheritable hemoglobin disorder caused by mutations in the HBB gene, poses a significant public health challenge in the world. Although no comprehensive work has been carried out in Bangladesh, the world prevalence and small-scale works indicated the possibility of a high prevalence of this disease in the country. Therefore, this review aims to explore the present situation of β-thalassemia in Bangladesh and propose approaches to mitigate its impact in the future. Limited awareness, a high incidence of consanguineous marriage, and inadequate access to healthcare are possible factors responsible for the high prevalence of thalassemia in Bangladesh, while the absence of public health policy and a national health insurance system further exacerbate the situation. The understanding of the genetic landscape and modern treatment strategies for β-thalassemia is hindered by the lack of comprehensive data on the mutation spectrum. In addition to conventional therapy such as blood transfusion, advanced practices such as splenectomy, hematopoietic stem cell transplantation, and emerging therapies such as gene therapy show promise for future cures but have yet to be widely implemented in this country. To effectively address the challenges of β-thalassemia, it is crucial to adopt comprehensive strategies, including a public awareness campaign, public health intervention, mandatory premarital screening, genetic counselling, and a national thalassemia prevention program. Additionally, understanding the spectrum of mutations and new therapeutic interventions is crucial for advanced healthcare strategies.","PeriodicalId":508366,"journal":{"name":"Thalassemia Reports","volume":"101 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141667858","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

Premarital Counseling on the Alpha Thalassemia Allele HBA2:c.*94A>G 关于阿尔法地中海贫血等位基因 HBA2:c.*94A>G 的婚前咨询

Thalassemia Reports Pub Date : 2024-06-03 DOI: 10.3390/thalassrep14020006

Latifa Alderei, Nouf Alshkeili, Dana Alnaqbi, Omar Abdulla Shehab, Ranjit Vijayan, Abdul-Kader Souid

{"title":"Premarital Counseling on the Alpha Thalassemia Allele HBA2:c.*94A>G","authors":"Latifa Alderei, Nouf Alshkeili, Dana Alnaqbi, Omar Abdulla Shehab, Ranjit Vijayan, Abdul-Kader Souid","doi":"10.3390/thalassrep14020006","DOIUrl":"https://doi.org/10.3390/thalassrep14020006","url":null,"abstract":"The mutation HBA2:c.*94A>G (AATAAA>AATAAG; rs63751269) is a 3′-UTR (3 prime untranslated region) single-nucleotide substitution in the polyadenylation (PA) signal of HBA2 (αPA:A→G). This pathogenic (CADD score, 14.92) variant is sporadic in the Arabian Peninsula. It results in inefficient mRNA processing, transcription termination, and possibly using an alternate cryptic downstream polyadenylation signal. As a result, the allele αT (or αT-Saudi) poses challenges in premarital counseling with respect to fetal risk of hemoglobin H disease. Homozygous HBA2:c.*94A>G (αTα/αTα) results in moderate-to-severe microcytosis (mean red cell volume, MCV, 55 to 65 fL), reflecting markedly impaired hemoglobin synthesis (hemoglobin H disease). Homozygous rightward -α3.7 (a 3804-neocleotide deletion allele, NM_000517.4:c.[-2_-3delAC; −α3.7]), on the other hand, results in mild microcytosis (MCV, 70 to 75 fL, alpha-thalassemia trait). Thus, HBA2:c.*94A>G is more damaging than -α3.7. Consistently, the value of MCV in compound heterozygosity, HBA2:c.*94A>G and −α3.7, is 65 to 70 fL. We report here a healthy couple who presented for premarital counseling on their hemoglobinopathy. The man has homozygous HBA2:c.*94A>G (αTα/αTα), and the woman has compound heterozygous (−α3.7/αTα, also annotated as: −3.7α/αTα). As a result, the genotype of their offspring would be that of the father (αTα/αTα) or the mother (−α3.7/αTα). The counseling was mainly based on the benign phenotypes of the parents. As both were asymptomatic and their anemia was clinically insignificant, they proceeded with the marriage.","PeriodicalId":508366,"journal":{"name":"Thalassemia Reports","volume":"14 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141272015","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

Psychological Burden among Pediatric Thalassemia Major Patients in Indonesia: A Review 印度尼西亚重型地中海贫血小儿患者的心理负担：综述

Thalassemia Reports Pub Date : 2024-05-14 DOI: 10.3390/thalassrep14020005

T. T. Sari, L. Rahmartani, Angga Wirahmadi, Nathasha Brigitta Selene, S. Iskandar, P. Wahidiyat

{"title":"Psychological Burden among Pediatric Thalassemia Major Patients in Indonesia: A Review","authors":"T. T. Sari, L. Rahmartani, Angga Wirahmadi, Nathasha Brigitta Selene, S. Iskandar, P. Wahidiyat","doi":"10.3390/thalassrep14020005","DOIUrl":"https://doi.org/10.3390/thalassrep14020005","url":null,"abstract":"Thalassemia a common hereditary blood disorder resulting in anemia. It is an important public health problem, with a high prevalence in Southeast Asia and Mediterranean countries, and preventable through screening programs. However, due to its chronic nature, permanent physical changes, troublesome complications, and lifelong treatment, pediatric patients with thalassemia major are more prone to mental disorders and cognitive impairment. Internalizing and externalizing problems are higher in pediatric patients with thalassemia. Children with β-thalassemia major exhibit lower IQ scores than healthy children. Neurophysiology and neuroimaging examinations have shown abnormal results in children with thalassemia. Co-morbidity with mental disorders increases the mortality, morbidity, and total healthcare costs of patients with thalassemia. Therefore, routine evaluation of mental health problems is recommended to accommodate the early detection and prompt treatment of mental disorders. A multidisciplinary approach for thalassemia patients and families should be delivered by providing appropriate medical care, psychosocial support, and good transition care to improve survival and well-being, assist good social integration and daily functioning, and cope with the stress of chronic disease.","PeriodicalId":508366,"journal":{"name":"Thalassemia Reports","volume":"57 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140978709","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

Challenges of Iron Chelation in Thalassemic Children 地中海贫血症儿童铁螯合面临的挑战

Thalassemia Reports Pub Date : 2024-02-01 DOI: 10.3390/thalassrep14010001

A. Adramerina, Marina Economou

引用次数: 0