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How does genetic counseling play a role in the management and prevention of thalassemia?

Compound heterozygosity

Prenatal diagnosis

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Genetic counseling plays a crucial role in the management and prevention of thalassemia by aiding in the identification of pathogenic mutations. It helps in detecting silent β-thal carriers, emphasizing the need for awareness among clinicians. Prenatal genetic counseling, especially for rare thalassemia cases, assists in evaluating genetic risks and making informed decisions. Understanding the genetic basis through complete sequencing of the HBB gene is essential for effective prenatal diagnosis and management of β-thal. Molecular genetic testing is pivotal for uncertain diagnoses and genetic counseling, particularly for assessing genetic risks in couples planning children. Overall, genetic counseling enhances early detection, risk assessment, and informed decision-making, contributing significantly to the prevention and management of thalassemia.

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Open access•Journal Article•DOI Inadequate Pre-conception Counseling is a Major Challenge for Antenatal Management of β-Thalassemia: Experience from a Referral Centre in India Mitesh Shetty, Sharath Balakrishna, Sridevi Hegde - Show less +2 more 01 Apr 2020-Indian Journal of Hematology and Blood Transfusion	Genetic counseling reduces depression in parents of children with thalassemia major, aiding in emotional management and support, although the paper does not directly address prevention of thalassemia.
Open access•Journal Article•DOI The role of molecular diagnostic testing for hemoglobinopathies and thalassemias Daniel E. Sabath 21 May 2023-International Journal of Laboratory Hematology	Genetic counseling reduces depression in parents of children with thalassemia major, aiding in emotional management and support, although the paper does not directly address prevention of thalassemia.
Journal Article•DOI Genotype-Phenotype Correlation of β-Thalassemia in Malaysian Population: Toward Effective Genetic Counseling. Uday Younis Hussein Abdullah, Hishamshah Ibrahim, Noraesah Mahmud, Mohamad Zaki Salleh, Lay Kek Teh, Mohd Nur Fakhruzzaman Noorizhab, Bin Alwi Zilfalil, Haitham Muhammed Jassim, Prapin Wilairat, Suthat Fucharoen - Show less +9 more 26 Jun 2020-Hemoglobin 6 Citations	Genetic counseling aids in managing and preventing thalassemia by identifying silent carriers, guiding at-risk couples, and emphasizing the importance of mutation screening for effective prevention strategies.
Open access•Journal Article•DOI Prenatal Genetic Counseling in a Chinese Pregnant Woman With Rare Thalassemia: A Case Report. Liangying Zhong, Ye Wang, Wenbin Lin, Zhenrong Yao, Jiang Zhang, Hongxu Xu, Pinning Feng, Lijuan Xu - Show less +7 more 01 Jan 2021-Frontiers in Genetics	Genetic counseling aids in managing thalassemia by identifying rare mutations, guiding prenatal decisions, and enhancing understanding of genetic risks, crucial for prevention and treatment strategies.
Book Chapter•DOI Genetic Counseling in Inherited Disorders 02 Oct 2022	Genetic counseling aids in identifying pathogenic mutations, guiding reproductive choices, and improving management of thalassemia, as demonstrated by Cyprus's successful national prevention program.

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How do genetic and environmental factors contribute to the development of thalassemia in Iraqi populations?5 answersGenetic factors play a significant role in the development of thalassemia in Iraqi populations. Studies have identified various thalassemia genotypes prevalent among individuals, such as beta-thalassemia traits in Baghdad with an estimated prevalence of 4.4%. Additionally, investigations into the AHSP gene polymorphism revealed a link between specific genotypes and the severity of beta-thalassemia in Iraq, indicating a genetic association with the disease. Environmental factors, particularly related to medical interventions, also contribute to thalassemia development. Hyper-transfusion therapy, while improving life expectancy, has led to increased complications due to iron overload in thalassemia patients in Iraq. Furthermore, the prevalence of hepatitis G virus infections in beta-thalassemia patients highlights the role of infections as environmental factors in exacerbating thalassemia complications in this population.

What are the specific genetic mutations associated with beta thalassemia?4 answersBeta-thalassemia is a genetic disorder characterized by mutations in the beta-globin gene, leading to a spectrum of clinical manifestations. Research has identified a wide array of specific genetic mutations associated with this condition. Among the common mutations prevalent in North India are IVS-I-5 (G→C), 619 bp deletion, IVS-I-1 (G→T), codon 41/42 (-TTCT), and codon 8/9 (+G). In Malaysia, significant associations were found with HBB gene polymorphisms, including c.9T/C, IVS2-16G/C, 3'UTR +314G/A, and 3'UTR +316A/C, indicating their role in predisposing individuals to beta-thalassemia. Additionally, rare and novel mutations have been discovered, such as hemoglobin Monroe, beta-globin mutation −90(C>T), Hb Randwick, and Hb-M-Saskatoon. In a study focusing on HbE/β-thalassemia, a severe form of the disease in Asian countries, seven novel mutations were identified among patients. Furthermore, KLF1 haploinsufficiency mutations, including C94X and P173fxP236, have been linked to increased fetal hemoglobin levels and have shown to mitigate the severity of β-thalassemia. In Thailand, haplotype analysis associated with β-thalassemia mutations revealed strong linkage disequilibrium between certain mutations and single nucleotide polymorphisms (SNPs), such as NT-28 (A > G), codon 17 (A > T), and codon 19 (A > G). A rare and novel mutation, -88(C > A)[HBB:c.-138C > A], was identified in a patient from Pakistan, expanding the genetic diversity associated with the disease. Moreover, mutations in iron regulatory proteins, specifically G71D of the HAMP gene and H63D of the HFE gene, have been observed to impact serum ferritin levels in beta-thalassemia patients. Lastly, the HBB -28 (A>G) mutation has been studied for its effects on the expression of pathogenesis-related genes, highlighting its role in the severity of β-thalassemia. This comprehensive overview underscores the genetic complexity of beta-thalassemia, with mutations ranging from common to rare and novel, each contributing to the disease's heterogeneity and clinical outcomes.

What are the factors that should be considered when providing genetic counselling?3 answersGenetic counselling involves considering several factors. These include validating the diagnosis, evaluating the needs of the counselee, assessing the family history, estimating the risk, making a decision and taking appropriate action, and providing follow-up support. For young adults undergoing presymptomatic genetic testing, factors such as the influence of others, autonomy, integration of genetic status, and specific needs should be considered during counselling. Ethical issues in genetic counselling often arise from tensions between different people's wishes or interests, including those of future children or other family members. The unique and high importance of genetic counselling is recognized globally, as it helps patients make informed decisions and improves communication in genetics and other fields. In the prenatal clinical arena, appropriate counselling is crucial for patients to make educated decisions about screening and diagnostic tests.

What is the best way to manage thalassemia e traits?5 answersThe best way to manage thalassemia e traits is still unclear as there is limited evidence available on specific management strategies for this condition. Psychological support may be appropriate for managing thalassemia, but no conclusions can be made about the use of specific psychological therapies in thalassemia. Haemoglobin E beta-thalassaemia, the commonest form of severe thalassemia in many Asian countries, can be managed without transfusion in many patients, even with low haemoglobin levels. Age-related changes in adaptation to anaemia suggest that more cost-effective approaches to management should be explored. Major advances have been made in the symptomatic management of thalassemias, including the judicious use of blood transfusion and the ability to manage iron accumulation resulting from transfusion. Guidelines for the clinical management of thalassemia provide a comprehensive guide to the optimal treatment of thalassemia, including access to safe blood and iron chelation therapy. Infections are a major complication in thalassemia, especially E-beta thalassemia, and general management includes prevention, immunization, and appropriate antibiotics.

How can data mining and fuzzy system be used to detect thalassemia?5 answersData mining and fuzzy systems can be used to detect thalassemia by developing predictive models based on various parameters and data. These models can help classify different types of thalassemia based on CBC data and identify the risk of thalassemia in different age groups. The models can be trained using supervised machine learning algorithms and optimized using techniques like the cuckoo search algorithm. The accuracy of these models in classifying thalassemia data has been shown to be high, reaching 100% in some cases. These models can aid in early detection and prevention of thalassemia by identifying suspected cases in apparently healthy and asymptomatic populations.

What are the Public health initiatives and education in the prevention and screening of hemoglobinopathies?5 answersPublic health initiatives and education play a crucial role in the prevention and screening of hemoglobinopathies. Newborn screening programs are the primary method for early detection and intervention of inherited hemoglobin disorders. In India, the focus is on primary prevention through prenatal screening in the first trimester of pregnancy, with the aim of reducing thalassemia births by 50%. Genetic counseling programs are also important in providing education and support to individuals with hemoglobin disorders and their relatives, promoting knowledge about the condition and transmission risks. Prevention programs in regions with a large immigrant population, such as Latium in Italy, have shown the need for adapting to changes in population ethnicities and implementing screening strategies at school age. Overall, public health initiatives and education efforts are essential in raising awareness, providing screening opportunities, and reducing the burden of hemoglobinopathies.

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