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Welhenge C, Ranasinghe R, Rajapakse S, Premawardhena A. Extensive systemic thrombo-embolism including intra-cardiac thrombosis mimicking an atrial myxoma in a patient with beta thalassaemia major - a case report. BMC Cardiovasc Disord 2023; 23:532. [PMID: 37907862 PMCID: PMC10619236 DOI: 10.1186/s12872-023-03576-2] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/03/2023] [Accepted: 10/24/2023] [Indexed: 11/02/2023] Open
Abstract
BACKGROUND Sepsis and thrombo-embolic disease are well known complications of thalassemia major. Intracardiac thrombi are however rare and can lead to diagnostic dilemmas. CASE PRESENTATION We report the case of a 20-year-old female splenectomised thalassaemia major patient with severe iron overload, who presented with life threatening sepsis associated with a liver abscess. Discovery of a large oscillating intra cardiac lesion on 2D echocardiogram confirmed by Contrast Enhanced Computed Tomography (CECT) chest in the right atrium extending from the left hepatic vein through the inferior vena cava complicated the clinical course. After a prolonged Intensive Care Unit (ICU) stay supported with antibiotics and anticoagulation, she recovered with evidence of resolution of the intra cardiac thrombus. CONCLUSIONS Early recognition and prompt aggressive treatment of sepsis in patients with thalassemia is essential to prevent complications. Intracardiac thrombosis is a potentially treatable cause for an intra cardiac mass in patients with thalassemia major, which should not be missed.
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Affiliation(s)
- Chiranthi Welhenge
- University Medical Unit, North Colombo (Teaching) Hospital, Ragama, Sri Lanka.
| | - Rumesh Ranasinghe
- University Medical Unit, North Colombo (Teaching) Hospital, Ragama, Sri Lanka
| | | | - Anuja Premawardhena
- Department of Medicine, Faculty of Medicine, University of Kelaniya, Ragama, Sri Lanka
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Grewal A, Kakkar S, Dewan P, Bansal N, Sobti PC, Eleftheriou P. Prevalence, Severity, and Determinants of Pain in Thalassemia. Hemoglobin 2023; 47:191-197. [PMID: 37982258 DOI: 10.1080/03630269.2023.2269846] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/29/2022] [Accepted: 10/07/2023] [Indexed: 11/21/2023]
Abstract
As the life expectancy in thalassemia is improving, pain is being recognized as an emerging problem. To document the pain prevalence and severity in patients with transfusion-dependent thalassemia all transfusion-dependent thalassemia patients >10 years of age (n = 165) attending the Thalassemia Day Care Center were assessed for pain prevalence, severity, and its effect on various life activities using the Brief Pain Inventory. Their medical records were reviewed for the presence of various co-morbidities. Pain was reported by 62.4% of participants with 35.2% and 59.4% of participants, reporting pain in the past 1 and 4 weeks respectively. A significantly higher pain prevalence was reported in females (p = .037), patients residing in urban areas (p = .038), and employed participants (p = .038). The commonest sites of pain were the lower back and calves. General activity (p = .02) and enjoyment of life (p = .02) were significantly affected due to pain in patients between 21 and 30 years of age. Female participants reported interference of pain with mood (p = .03). A significant correlation of pain prevalence was found with higher average serum ferritin (p = .015), moderate to severe liver iron concentration (p = .04), and lower levels of 25 hydroxyvitamin D levels (p = .03). Pain is an emerging cause of morbidity in thalassemia. The study found a significant association of pain with modifiable factors such as serum ferritin, LIC, and 25 (OH) vitamin D levels.
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Affiliation(s)
- Amanat Grewal
- Dayanand Medical College and Hospital, Ludhiana, India
| | - Shruti Kakkar
- Department of Pediatrics, Dayanand Medical College and Hospital, Ludhiana, India
| | | | - Namita Bansal
- Dayanand Medical College and Hospital, Ludhiana, India
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Temelci A, Yılmaz HG, Ünsal G, Uyanik LO, Yazman D, Ayali A, Minervini G. Investigation of the Wetting Properties of Thalassemia Patients' Blood Samples on Grade 5 Titanium Implant Surfaces: A Pilot Study. Biomimetics (Basel) 2023; 8:25. [PMID: 36648811 PMCID: PMC9844454 DOI: 10.3390/biomimetics8010025] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/28/2022] [Revised: 12/20/2022] [Accepted: 01/04/2023] [Indexed: 01/11/2023] Open
Abstract
Background and Objectives: Beta-thalassemia (BT) has a high prevalence in Mediterranean, Southeast Asian, and African countries. Studies stated that thalassemia is an endemic disease that causes significant health problems in Cyprus. This study aimed to measure the contact angle between the implant and blood samples from BT major patients and healthy individuals to compare the contact angles and wettability of Grade 5 titanium implant surfaces. Materials and Methods: Grade 5 titanium discs that were 10 mm in diameter were used since they mimic the surface of dental implants. Following receiving informed consent, blood samples were taken from the patients’ index fingers in each group with lancet needles and a photo of the contact angle between the blood samples and the titanium surface was taken; the collected blood was transferred to a titanium disc with a medical pipette. ImageJ software with a specific contact angle plugin was used for the contact angle measurements. Results: Theta-mean, theta-circular, and theta-ellipse values were compared between all groups, and no significant difference was found (p > 0.05). Conclusions: In this study, it was hypothesized that the patients’ rheological property of decreased deformability would affect the wettability of implant surfaces in vitro; however, no such finding was reached in this study. Since in-depth studies associated with dental implant success in BTM patients are absent in the literature and Cyprus is one of the Mediterranean countries with a high prevalence of BTM, this study was conducted to enrich the literature. While some systemic diseases may affect the contact angle between the implant surface and blood, it can be concluded that this condition was not present for BTM patients in our study. Last but not least, we emphasize that this experiment was done on a single surface type and the results can be totally different when using other surface types.
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Affiliation(s)
- Ali Temelci
- Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, Near East University, Nicosia 99138, Cyprus
| | - Hasan Güney Yılmaz
- Department of Periodontology, Faculty of Dentistry, Near East University, Nicosia 99138, Cyprus
| | - Gürkan Ünsal
- Department of Dentomaxillofacial Radiology, Faculty of Dentistry, Near East University, Nicosia 99138, Cyprus
| | - Lokman Onur Uyanik
- Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, Near East University, Nicosia 99138, Cyprus
| | - Dilek Yazman
- Center of Thalassemia, Dr. Burhan Nalbantoğlu State Hospital, Nicosia 99010, Cyprus
| | - Aysa Ayali
- Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, European University of Lefke, Nicosia 99728, Cyprus
| | - Giuseppe Minervini
- Multidisciplinary Department of Medical-Surgical and Dental Specialties, University of Campania Luigi Vanvitelli, 81100 Caserta, Italy
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Wahidiyat PA, Yo EC, Wildani MM, Triatmono VR, Yosia M. Cross-sectional study on knowledge, attitude and practice towards thalassaemia among Indonesian youth. BMJ Open 2021; 11:e054736. [PMID: 34862299 PMCID: PMC8647533 DOI: 10.1136/bmjopen-2021-054736] [Citation(s) in RCA: 15] [Impact Index Per Article: 3.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/21/2023] Open
Abstract
INTRODUCTION Thalassaemia is an inherited blood disorder, for which definitive treatments remain largely inaccessible. The recommended approach to reduce the disease burden is by prevention through screening. Currently, the implementation of thalassaemia preventive measures is poorly regulated in Indonesia. Thalassaemia prevention and education are best targeted to the youth, but information on their awareness towards thalassaemia is limited. This study aims to investigate the knowledge, attitude and practice (KAP) towards thalassaemia among Indonesian youth. METHODS This observational study took place between January and May 2021. An online questionnaire was disseminated to Indonesian youth aged 15-24. Eligible respondents included carriers, unaffected individuals and individuals with unknown carrier status. The questionnaire comprised 28 questions to assess KAP. A cut-off of 75% was used to categorise participant's KAP into poor or negative and good or positive. Descriptive statistics, χ2 test, logistic regression and Pearson correlation were performed for data analysis. RESULTS A total of 906 responses were gathered, and 878 were analysed. Most respondents had poor knowledge (62.1%), positive attitude (83.3%) and poor practice (54.4%) towards thalassaemia. The results implied that respondents had limited understanding regarding the types of thalassaemia and the difference between asymptomatic carriers and individuals without the thalassaemia trait. Many (82.6%) believed they were not carrying thalassaemia trait despite the fact that most (95.7%) never got tested. Age, education, gender, residence and family income were key factors that correlated with or predicted the youth's KAP towards thalassaemia. Older respondents and women were more likely to have good KAP. CONCLUSION Thalassaemia screening targeted to the youth is urgently needed, and future interventions must consider sociodemographic factors that may affect how they perceive the disease. Social media appeals to the youth as an important source of information, but school, parents and health professionals should also be involved in delivering education about thalassaemia.
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Affiliation(s)
- Pustika Amalia Wahidiyat
- Department of Child Health, Faculty of Medicine Universitas Indonesia, Jakarta, Indonesia
- Department of Hematology and Oncology, Rumah Sakit Umum Pusat Nasional Dr Cipto Mangunkusumo, Central Jakarta, Indonesia
| | | | | | | | - Mikhael Yosia
- Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia
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Molecular classification of blood and bleeding disorder genes. NPJ Genom Med 2021; 6:62. [PMID: 34272389 PMCID: PMC8285395 DOI: 10.1038/s41525-021-00228-2] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/24/2021] [Accepted: 06/28/2021] [Indexed: 12/13/2022] Open
Abstract
The advances and development of sequencing techniques and data analysis resulted in a pool of informative genetic data, that can be analyzed for informing decision making in designing national screening, prevention programs, and molecular diagnostic tests. The accumulation of molecular data from different populations widen the scope of utilization of this information. Bleeding disorders are a heterogeneous group of clinically overlapping disorders. We analyzed the targeted sequencing data from ~1285 Saudi individuals in 17 blood and bleeding disorders genes, to determine the frequency of mutations and variants. We used a replication set of ~5000 local exomes to validate pathogenicity and determine allele frequencies. We identified a total of 821 variants, of these 98 were listed in HGMD as disease related variants and 140 were novel variants. The majority of variants were present in VWF, followed by F5, F8, and G6PD genes, while FGG, FGB, and HBA1 had the lowest number of variants. Our analysis generated a priority list of genes, mutations and novel variants. This data will have an impact on informing decisions for screening and prevention programs and in management of vulnerable patients admitted to emergency, surgery, or interventions with bleeding side effects.
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Angelucci E, Abutalib SA. Advances in transplantation and gene therapy in transfusion-dependent β-thalassemia. ACTA ACUST UNITED AC 2018. [DOI: 10.1002/acg2.25] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/12/2022]
Affiliation(s)
- Emanuele Angelucci
- Unità Operativa Ematologia e Centro Trapianto Cellule Emopoietiche; IRCCS Ospedale Policlinico San Martino; Genova Italy
| | - Syed A. Abutalib
- Hematology and Hematopoietic Cell Transplantation; Hematopoietic Cell Transplant Apheresis Program; Cancer Treatment Centers of America; Zion Illinois
- Chicago Medical School; Rosalind Franklin University of Medicine and Science; North Chicago Illinois
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Lobitz S, Telfer P, Cela E, Allaf B, Angastiniotis M, Backman Johansson C, Badens C, Bento C, Bouva MJ, Canatan D, Charlton M, Coppinger C, Daniel Y, de Montalembert M, Ducoroy P, Dulin E, Fingerhut R, Frömmel C, García-Morin M, Gulbis B, Holtkamp U, Inusa B, James J, Kleanthous M, Klein J, Kunz JB, Langabeer L, Lapouméroulie C, Marcao A, Marín Soria JL, McMahon C, Ohene-Frempong K, Périni JM, Piel FB, Russo G, Sainati L, Schmugge M, Streetly A, Tshilolo L, Turner C, Venturelli D, Vilarinho L, Yahyaoui R, Elion J, Colombatti R. Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference. Br J Haematol 2018; 183:648-660. [DOI: 10.1111/bjh.15600] [Citation(s) in RCA: 96] [Impact Index Per Article: 13.7] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/08/2018] [Accepted: 07/26/2018] [Indexed: 12/23/2022]
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Kanaris C. Foetal surgery and using in utero therapies to reduce the degree of disability after birth. Could it be morally defensible or even morally required? MEDICINE, HEALTH CARE, AND PHILOSOPHY 2017; 20:131-146. [PMID: 27631407 DOI: 10.1007/s11019-016-9727-0] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 06/06/2023]
Abstract
In 2008 the Human Fertilisation and Embryology Act amendments made deliberately choosing to bring disability into the world, using assisted reproduction, a criminal offence. This paper considers whether the legal prohibition above, should influence other policy areas concerning the welfare of future children such as new possibilities presented by foetal surgery and in utero gene therapy. If we have legal duties to avoid disability in one context should this influence our avoidance of disability in this other context? This paper investigates whether the State might have a stake in wider promotion of practices to reduce the degree of disability in foetuses that will come to exist (as opposed to those that will be aborted). Not selecting for disability does not affect the welfare of any future individual, whereas treating in utero abnormalities can optimize the eventual child's welfare; antenatal interventions stand to improve clinical outcomes and welfare should that specific child be born. I explore why the State may want to intervene in the antenatal setting and to what extent, if at all; the State should implement these technologies. I argue that if the State is justified in intervening to outlaw the choosing to create disabled lives using assisted reproductive techniques, it is also justified in putting pressure on prospective parents to accept therapies in utero to help their child be born less disabled. However, I qualify this with the argument that the State is not justified in using force or the criminal law in this situation during pregnancy.
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Affiliation(s)
- Constantinos Kanaris
- Paediatric Intensive Care Unit, Royal Manchester Children's Hospital, Manchester, UK.
- The Centre for Social Ethics and Policy, School of Law, University of Manchester, Manchester, UK.
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Kolnagou A, Kontoghiorghe CN, Kontoghiorghes GJ. Transition of Thalassaemia and Friedreich ataxia from fatal to chronic diseases. World J Methodol 2014; 4:197-218. [PMID: 25541601 PMCID: PMC4274580 DOI: 10.5662/wjm.v4.i4.197] [Citation(s) in RCA: 22] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/25/2014] [Revised: 07/22/2014] [Accepted: 10/16/2014] [Indexed: 02/06/2023] Open
Abstract
Thalassaemia major (TM) and Friedreich’s ataxia (FA) are autosomal recessive inherited diseases related to the proteins haemoglobin and frataxin respectively. In both diseases abnormalities in iron metabolism is the main cause of iron toxicity leading to increased morbidity and mortality. Major efforts are directed towards the prevention of these diseases and also in their treatment using iron chelation therapy. Both TM and FA are endemic in Cyprus, where the frequency per total population of asymptomatic heterozygote carriers and patients is the highest worldwide. Cyprus has been a pioneering nation in preventing and nearly eliminating the birth of TM and FA patients by introducing an organized health structure, including prenatal and antenatal diagnosis. Effective iron chelation therapy, improved diagnostic methods and transfusion techniques as well as supportive therapy from other clinical specializations have improved the survival and quality of life of TM patients. Despite the tiresome clinical management regimes many TM patients are successful in their professional lives, have families with children and some are now living well into their fifties. The introduction of deferiprone led to the elimination of cardiac failure induced by iron overload toxicity, which was the major cause of mortality in TM. Effective combinations of deferiprone with deferoxamine in TM patients caused the fall of body iron to normal physiological ranges. In FA different mechanisms of iron metabolism and toxicity apply to that of TM, which can be targeted with specific iron chelation protocols. Preliminary findings from the introduction of deferiprone in FA patients have increased the hopes for improved and effective therapy in this untreatable condition. New and personalised treatments are proposed in TM and FA. Overall, advances in treatments and in particular of chelation therapy using deferiprone are transforming TM and FA from fatal to chronic conditions. The paradigm of Cyprus in the prevention and treatment of TM can be used for application worldwide.
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Kontoghiorghe CN, Andreou N, Constantinou K, Kontoghiorghes GJ. World health dilemmas: Orphan and rare diseases, orphan drugs and orphan patients. World J Methodol 2014; 4:163-188. [PMID: 25332915 PMCID: PMC4202455 DOI: 10.5662/wjm.v4.i3.163] [Citation(s) in RCA: 34] [Impact Index Per Article: 3.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/29/2014] [Revised: 04/05/2014] [Accepted: 06/27/2014] [Indexed: 02/06/2023] Open
Abstract
According to global annual estimates hunger/malnutrition is the major cause of death (36 of 62 million). Cardiovascular diseases and cancer (5.44 of 13.43 million) are the major causes of death in developed countries, while lower respiratory tract infections, human immunodeficiency virus infection/acquired immunodeficiency syndrome, diarrhoeal disease, malaria and tuberculosis (10.88 of 27.12 million) are the major causes of death in developing countries with more than 70% of deaths occurring in children. The majority of approximately 800 million people with other rare diseases, including 100000 children born with thalassaemia annually receive no treatment. There are major ethical dilemmas in dealing with global health issues such as poverty and the treatment of orphan and rare diseases. Of approximately 50000 drugs about 10% are orphan drugs, with annual sales of the latter approaching 100 billion USD. In comparison, the annual revenue in 2009 from the top 12 pharmaceutical companies in Western countries was 445 billion USD and the top drug, atorvastatin, reached 100 billion USD. In the same year, the total government expenditure for health in the developing countries was 410 billion USD with only 6%-7% having been received as aid from developed countries. Drugs cost the National Health Service in the United Kingdom more than 20 billion USD or 10% of the annual health budget. Uncontrollable drug prices and marketing policies affect global health budgets, clinical practice, patient safety and survival. Fines of 5.3 billion USD were imposed on two pharmaceutical companies in the United States, the regulatory authority in France was replaced and clinicians were charged with bribery in order to overcome recent illegal practises affecting patient care. High expenditure for drug development is mainly related to marketing costs. However, only 2 million USD was spent developing the drug deferiprone (L1) for thalassaemia up to the stage of multicentre clinical trials. The criteria for drug development, price levels and use needs to be readdressed to improve drug safety and minimise costs. New global health policies based on cheaper drugs can help the treatment of many categories of orphan and rare diseases and millions of orphan patients in developing and developed countries.
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Abstract
BACKGROUND Although research has demonstrated the detrimental effects of excessive negative affect on treatment adherence and morbidity in chronic illness, rarely have researchers investigated the benefits of awareness of negative emotional experiences during treatment. PURPOSE In this investigation, we examined the association of negative affect differentiation (the ability to report negative emotional experiences as separate and distinct from each other,) to treatment adherence in adult patients with the congenital blood disorder thalassemia. METHOD Negative affect differentiation was assessed during a 12-16-week treatment-based diary and adherence was operationalized as attendance at routine screenings over 12 months. Participants were adult patients (n = 32; age M = 31.63, SD = 7.72; 72 % female) with transfusion-dependent thalassemia in treatment in a large metropolitan hospital in the Northeastern USA. RESULTS The results indicate that negative affect differentiation is significantly associated with greater adherence to treatment, even when controlling for disease burden and level of psychological distress. CONCLUSION Although preliminary, this investigation suggests that differentiated processing of negative emotional experiences during illness can lead to adaptive treatment-related behavior. As such, it may present a new avenue for research and intervention targeting the improvement of adherence during treatment for chronic illness.
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Oliveros O, Trachtenberg F, Haines D, Gerstenberger E, Martin M, Carson S, Green S, Calamaras D, Hess P, Yamashita R, Vichinsky E. Pain over time and its effects on life in thalassemia. Am J Hematol 2013; 88:939-43. [PMID: 23918696 DOI: 10.1002/ajh.23565] [Citation(s) in RCA: 16] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/07/2013] [Revised: 07/24/2013] [Accepted: 07/29/2013] [Indexed: 01/19/2023]
Abstract
Pain reports have become increasingly common and problematic in thalassemia. As patients are living longer,there is a growing need to study pain and to explore its impact on patient lives. The Brief Pain Inventory(BPI) was used quarterly to assess pain and pain interference in patients with thalassemia in North America.The Medical Outcomes Study 36-Item Short Form Health Survey and the Hospital Anxiety and Depression Scale were used to assess quality of life, anxiety and depression. Of the 252 participants, 56% reported pain at least once over the course of this study, with 32% reporting severe pain (≥7/10); 16% reported pain at all four visits. Increased pain severity significantly interfered with daily life (P< 0.001; regression analysis) and participants with more sites of pain showed an increase in the amount of daily activities affected by pain(P50.001). Participants reporting more visits with pain reported a significantly higher impact on affective and physical function (P< 0.001). Physical quality of life decreased with increasing numbers of visits with pain (P< 0.001). Those who reported one or more sites of pain showed increased symptoms of both depression(P< 0.001) and anxiety (P50.003). Participants reporting at least two visits with pain had higher symptoms of anxiety (P50.002) and those with at least three visits reported higher symptoms of depression(P50.003). Pain is prevalent in thalassemia and is often a chronic condition that interferes with life. The study highlights the significance of pain in thalassemia and its impact, which should be considered in future research and treatments.
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Affiliation(s)
| | | | - Dru Haines
- Children's Hospital and Research Center; Oakland California
| | | | - Marie Martin
- Children's Hospital of Philadelphia; Philadelphia Pennsylvania
| | - Susan Carson
- Children's Hospital Los Angeles; Los Angeles California
| | - Sage Green
- Children's Hospital of Philadelphia; Philadelphia Pennsylvania
| | | | - Pauline Hess
- Lurie Children's Hospital of Chicago; Chicago Illinois
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Kontoghiorghe CN, Kolnagou A, Kontoghiorghes GJ. Potential clinical applications of chelating drugs in diseases targeting transferrin-bound iron and other metals. Expert Opin Investig Drugs 2013; 22:591-618. [PMID: 23586878 DOI: 10.1517/13543784.2013.787408] [Citation(s) in RCA: 21] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/19/2023]
Abstract
INTRODUCTION Iron is essential for normal, neoplasmic and microbial cells. Transferrin (Tf) is responsible for iron transport and its interactions with chelators are of physiological and toxicological importance and could lead to new therapeutic applications. AREAS COVERED Differential interactions of Tf with chelators such as deferiprone (L1) could be used to modify toxicity and disease pathways in relation to iron and other metal metabolism. Iron mobilization by L1 could achieve normal body iron stores in thalassemia patients. Iron mobilization from the reticuloendothelial system by L1 and exchange with Tf could be used to increase the production of hemoglobin in the anemia of chronic disease. Iron accumulation is pathogenic in neurodegenerative, acute kidney and other diseases and could be removed by L1 with therapeutic implications. Deprivation of iron from neoplasmic and microbial cells by chelators could increase the prospect of improved treatments in cancer and infectious diseases. Other applications include metal detoxification and inhibition of oxidative stress-related conditions. EXPERT OPINION Specific mechanisms apply in the interactions of chelators with Tf, which could be used in the design of targeted therapeutic strategies in many conditions. In each case specific chelator protocols have to be designed for achieving optimum therapeutic activity.
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Affiliation(s)
- Christina N Kontoghiorghe
- Postgraduate Research Institute of Science, Technology, Environment and Medicine, Limassol CY 3021, Cyprus.
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Ladis V, Karagiorga-Lagana M, Tsatra I, Chouliaras G. Thirty-year experience in preventing haemoglobinopathies in Greece: achievements and potentials for optimisation. Eur J Haematol 2013; 90:313-22. [DOI: 10.1111/ejh.12076] [Citation(s) in RCA: 28] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 01/11/2013] [Indexed: 11/29/2022]
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Abstract
The thalassemias are among the most common inherited diseases worldwide, affecting individuals originating from the Mediterranean area, Middle East, Transcaucasia, Central Asia, Indian subcontinent, and Southeast Asia. As the diseases require long-term care, prevention of the homozygous state constitutes a major armament in the management. This article discusses the major prevention programs that are set up in many countries in Europe, Asia, and Australia, often drawing from the experience in Sardinia. These comprehensive programs involve carrier detections, molecular diagnostics, genetic counseling, and prenatal diagnosis. Variability of clinical severity can be attributable to interactions with α-thalassemia and mutations that increase fetal productions. Special methods that are currently quite expensive and not widely applicable are preimplantation and preconception diagnosis. The recent successful studies of fetal DNA in maternal plasma may allow future prenatal diagnosis that is noninvasive for the fetus.
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Affiliation(s)
- Antonio Cao
- Dipartimento di Scienze Biomediche e Biotecnologie, Università degli Studi di Cagliari, Via Jenner snc 09121 Cagliari, Sardinia, Italy
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Gharaibeh HF, Gharaibeh MK. Factors influencing health-related quality of life of thalassaemic Jordanian children. Child Care Health Dev 2012; 38:211-8. [PMID: 21426370 DOI: 10.1111/j.1365-2214.2011.01224.x] [Citation(s) in RCA: 23] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/19/2023]
Abstract
PURPOSE To assess the health-related quality of life (HRQoL) of Jordanian children with thalassaemia, identify differences in HRQoL according to socio-demographic and clinical characteristics of participants, and identify factors influencing HRQoL of thalassaemic children in Jordan. METHODS The Pediatric Quality of Life Inventory and socio-demographic and clinical data forms were used to collect data from a convenience sample of 128 thalassaemic children and 83 healthy children between the ages of 8 to 18 years. Thalassaemic children were recruited from two thalassaemia units during their blood transfusion and treatment visits. Healthy children were recruited from four public schools. RESULTS Thalassaemic children had significantly lower HRQoL mean scores in all dimensions compared with their healthy counterparts. The lowest mean scores for thalassaemic children were reported for the school functioning and the physical functioning domains (46.71 ± 21.14 and 54.19 ± 15.10), respectively. Regression analysis showed that disease complications and family history of thalassaemia explained 8.5% of the variance in the total HRQoL. CONCLUSION This study highlights the negative impact of thalassaemia on the quality of life of children, especially in terms of physical well-being and school achievement. Healthcare providers, counsellors and school teachers have very important roles in helping these children to overcome these problems and enhance their quality of life.
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Affiliation(s)
- H F Gharaibeh
- Maternal and Child Health Department, Faculty of Nursing, Jordan University of Science and Technology, Irbid, Jordan.
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Zeinali S, Fallah MS, Bagherian H. Heterogeneity of hemoglobin h disease in childhood. N Engl J Med 2011; 364:2069-70; author reply 2071-2. [PMID: 21612484 DOI: 10.1056/nejmc1103406] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/19/2022]
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Abstract
The impact of hemoglobinopathies on healthcare in the United States, particularly sickle cell disease (SCD), has been significant. Enactment of the Sickle Cell Anemia Control Act in 1972 significantly increased the federal interest in the SCDs and other hemoglobinopathies. Only since May 1, 2006, have all states required and provided universal newborn screening for SCD despite a national recommendation to this effect in 1987. In this article, we review the history of screening for SCD and other hemoglobinopathies, along with federal and state activities that have contributed to improved health outcomes for patients with SCD, as well as current newborn screening practices. We also chronicle the federal activities that have helped to shape and to refine laboratory screening and diagnostic proficiency. Finally, we review molecular testing strategies that have evolved and outline their possible future impacts on disease detection and outcome improvement.
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Affiliation(s)
- Jane M Benson
- Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA
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