Complications Of Thalassemia Research Articles

7982 Is there a Connection between Alpha Thalassemia and Thyroid Disorders

Abstract Disclosure: W. Akhter: None. V. Taqi: None. J.L. Gilden: None. IntroductionA number of case reports suggest an association between thalassemia and autoimmune diseases through specific mutations and molecular pathways. An example is thyroid disease in thalassemia patients. Due to factors such as age, ethnicity and treatment protocol differences, the frequency of hypothyroidism in thalassemia patients is a wide range of 4 to 29% based on free T4 and TSH levels. Subclinical hypothyroidism is more common in thalassemia patients as compared to overt hypothyroidism. 90% of morbidity and mortality in B-Thalassemia patients is attributed to iron overload, anemia and hypoxia. Understanding this possible mechanism helps guide treatment and monitoring. Case PresentationWe present the case of a 26-year-old African American with Haitian ethnicity female, who upon routine testing was found to have a very high TSH level of 79.084 uIU/ml (nl=0.550-4.780 uIU/ml) for which 125 mcg of Levothyroxine was started, and then she was referred to the endocrine clinic. Past history was notable for sickle cell trait and alpha thalassemia trait. Patient stated that at age 12, she developed fatigue and low energy and was found to have hyperthyroidism which was treated with RAI ablation. After that, no follow up or lab tests were done until recently. The patient denied symptoms of hypo or hyperthyroidism or enlargement of the thyroid gland. She denied any family history of thyroid disorders. After presenting to the endocrine clinic a few days later, she was diagnosed with postprocedural hypothyroidism and the same dose of levothyroxine was continued. Physical exam was unremarkable and no thyromegaly was appreciated on exam. Labs were notable for decreased Hemoglobin of 11.4 g/dL (nl=12-16 g/dL) and CMP was unremarkable except low glucose of 65 mg/dL (nl=70-99 mg/dL). The patient’s most recent labs after 8 weeks of taking Levothyroxine were notable for TSH of 14.65 uIU/ml (nl=0.550-4.780 uIU/ml) and free T4 of 1 ng/dL (nl= 0.89-1.76 ng/dL) and the patient admitted to having still no thyroid symptoms and a little more energy. ConclusionEndocrinopathies are common complications of thalassemia with hypothyroidism being the second most common endocrine disorder in thalassemia patients after hypogonadism, reported in 5.6-17% of patients. In thalassemia patients, endocrine disorders have to be managed as early as possible. Therefore, it is recommended that an endocrine evaluation be carried out in thalassemia patients at a young age.Monitoring for glucose homeostasis, hypothyroidism and hypoparathyroidism is also warranted. Physicians caring for thalassemia patients should perform routine screening for and treat thyroid dysfunction appropriately. Reference: De Sanctis V, Soliman AT, Canatan, et al.. Thyroid Disorders in Homozygous β-Thalassemia: Mediterr J Hematol Infect Dis. 2019 May 1;11(1):e2019029. doi: 10.4084/MJHID.2019.029. PMID: 31205633; PMCID: PMC6548211. Presentation: 6/2/2024

Prevalence and risk factors predisposing low bone mineral density in patients with thalassemia.

A common complication of thalassemia is secondary osteoporosis. This study aimed to assess the prevalence and factors associated with low BMD in thalassemic patients. This is a cross-sectional study. Eligible patients were males aged within 18-49 years or premenopausal women diagnosed with thalassemia in Chiang Mai University Hospital between July 2021 and July 2022. The diagnosis of low BMD by dual-energy x-ray absorptiometry (DXA) was defined as a Z-score of -2.0 SD or lower in either the lumbar spine or femoral neck. Clinical factors associated with low BMD were analyzed using a logistic regression model. Prevalence of low BMD was 62.4% from 210 patients with a mean age of 29.7 ± 7.6 years. The predominant clinical characteristics of low BMD thalassemia patients were being female, transfusion-dependent (TDT) and a history of splenectomy. From multivariable analysis, the independent variables associated with low BMD were transfusion dependency (odds ratio, OR 2.36; 95%CI 1.28 to 4.38; p=0.006) and body mass index (BMI) (OR 0.71; 95%CI 0.61 to 0.82; p<0.001). Among patients with low BMD, we observed a correlation between a Z-score with low IGF-1 levels (β=-0.42; 95% CI -0.83 to -0.01; p=0.040), serum phosphate levels (β=0.40; 95% CI 0.07 to 0.73; p=0.016) and hypogonadism (β=-0.48, 95% CI -0.91 to -0.04, p=0.031). This study found a prevalence of low BMD in 62.4% of subjects. Factors associated with low BMD were TDT and BMI. Within the low BMD subgroup, hypogonadism, serum phosphate and low serum IGF-1 levels were associated with a lower Z-score.

Comparison of Yearly Cost Related to Complications Between Deferasirox and Deferiprone Monotherapy in Thalassemia.

Hemoglobin disorders such as thalassemia major have created an economic burden on the health care system. Iron chelation therapy (ICT) is the most expensive cost component in patients with thalassemia. ICT was administered to reduce the toxic effects of iron overload. This study aims to compare the costs of iron chelators as monotherapy in patients with thalassemia major in Indonesia, specifically in Cipto Faculty of Medicine, Universit. This is a retrospective analytical observational study. Data were collected from the thalassemia registry from 2016 to 2019. Patients' age, gender, type of thalassemia, and type of iron chelation were recorded. Complications and total annual costs were evaluated. All thalassemia patients aged ≥2 years who were only receiving monotherapy ICT and had no history of therapy switching were eligible. We excluded subjects who moved out to other facilities or lost to follow-up. From a total of 256 subjects, 249 subjects were included. The median age is 28 years old. Both sexes were represented equally. As many as 96.8% of subjects have thalassemia beta. Deferiprone was the most common iron chelator used (86.7%). Complications were observed in the subjects based on 4-year data collection; most of them were cardiomyopathy, diabetes mellitus, delayed puberty, and malnutrition ( P =0.422; P =0.867; P =0.004; and P =0.125, respectively). Deferiprone had a lower mean annual cost of USD 3581 than deferasirox, which had a cost of USD 6004. Cardiomyopathy, diabetes mellitus, delayed puberty, and malnutrition were the most common complications found in the study. This study showed that deferiprone should be taken as consideration as a drug of choice to treat iron overload in thalassemia provided by Indonesian national health insurance which is less costly despite the probability of complications found after the treatment was given. Further investigations are required to evaluate contributing factors of complications in thalassemia.

Deferiprone-resveratrol hybrid attenuates iron accumulation, oxidative stress, and antioxidant defenses in iron-loaded human Huh7 hepatic cells.

Chronic liver diseases are complications of thalassemia with iron overload. Iron chelators are required to remove excessive iron, and antioxidants are supplemented to diminish harmful reactive oxygen species (ROS), purposing to ameliorate oxidative liver damage and dysfunctions. The deferiprone-resveratrol hybrid (DFP-RVT) is a synthetic iron chelator possessing anti-β-amyloid peptide aggregation, anti-malarial activity, and hepatoprotection in plasmodium-infected mice. The study focuses on investigating the antioxidant, cytotoxicity, iron-chelating, anti-lipid peroxidation, and antioxidant defense properties of DFP-RVT in iron-loaded human hepatocellular carcinoma (Huh7) cells. In the findings, DFP-RVT dose dependently bound Fe(II) and Fe(III) and exerted stronger ABTS•- and DPPH•-scavenging (IC50 = 8.0 and 164μM, respectively) and anti-RBC hemolytic activities (IC50 = 640μM) than DFP but weaker than RVT (p < 0.01). DFP-RVT was neither toxic to Huh7 cells nor PBMCs. In addition, DFP-RVT diminished the level of redox-active iron (p < 0.01) and decreased the non-heme iron content (p < 0.01) in iron-loaded Huh7 cells effectively when compared without treatment in the order of DFP-RVT > RVT ∼ DFP treatments (50µM each). Moreover, the compound decreased levels of hepatic ROS in a dose-dependent manner and the level of malondialdehyde, which was stronger than DFP but weaker than RVT. Furthermore, DFP-RVT restored the decrease in the GSH content and GPX and SOD activities (p < 0.01) in iron-loaded Huh7 cells in the dose-dependent manner, consistently in the order of RVT > DFP-RVT > DFP. Thus, the DFP-RVT hybrid possesses potent iron chelation, antioxidation, anti-lipid peroxidation, and antioxidant defense against oxidative liver damage under iron overload.

The effect of minor thalassemia on the liver function and lipid profile compared with major thalassemia.

It is thought that only patients with major thalassemia need to be under healthy control compared to minor. Thus, the aim of this work is to investigate the minor thalassemia complications in the liver status and compare them with the major thalassemia. So, 84 patients with thalassemia were randomly selected; 56 with major and 28 with minor. The Blood Samples were collected and used to determine the levels of ferritin, liver enzymes and lipid profiles. The results were showed that while there were no significantly differences in the ALP levels, ALT and AST levels were significantly higher in the major thalassemia compared to minor. All the patients with major and minor had abnormal higher ALP, 45% of major had abnormal higher AST and 30% of the major had abnormal ALT than normal range. Bild, BilT, cholesterol and trig levels were significantly higher while LDH and UHDL levels were significantly lower in the major compared to minor. The Bild levels in 90% of the major compared to 40% of the minor were abnormal higher than normal range. As conclusion, there were abnormality in the ALP and some lipid profile of minor thalassemia. So, the patients with minor thalassemia could be under risk of liver disorder so they need to be under control and to find the exact reason of this disorder need more researches.

Comparative Study of Neurosurgical Complications of Thalassemia and Sickle Cell Disease

Comparative Study of Neurosurgical Complications of Thalassemia and Sickle Cell Disease

Effects of vitamin D supplementation (oily form) in patients with thalassemia

Background. Thalassemia is congenital disease case by mutation effect to synthesis of beta globin chain of hemoglobin result in combination of metabolic and endocrine disorder. Bone disease is a not rare complication in thalassemia due to malabsorption of calcium, the secondary chronic renal disorder with low vitamin D (VD), as well as many endocrine risk factors. Aim. Evaluation of vitamin D treatment (oily form) in patients with thalassemia. Method. Post Marketing Surveillance (PMS) in 26 patients with Thalassemia in Ibn Al-Atheer Hospital. All patient take vitamin D oral vial oily form with dose 50000 IU, this PMS continued in 4 weeks, every week the patient take one vial. The Parameter for the level of VD. Result. The total number of patients was 26; mean age was 13.5 years, between 3-41 years, with 53.8% were males and 46.2% were females. mean serum level of vitamin D was statically significantly very lower in thalassemia patients than in than normal level; (89%) of cases had deficient VD (≤ 20 ng/ml), (7%) of cases had insufficient vitamin D (21–29 ng/ml), and (4%) of cases had deficient VD optimal vitamin D (more than 30 ng/ml), our study showed that 4 weeks of VD supplementation significantly increased the serum level of VD. Conclusion. VD (Oily based oral vial) “High D” significantly raise the VD level in serum in majority of thalassemia patients, the result was sustained regardless of age, gender and existence of other comorbidities.

An update on recent studies of extracellular vesicles and their role in hypercoagulability in thalassemia (Review).

Thromboembolic events are a significant clinical concern in thalassemia and hemoglobinopathies, highlighting the need for new strategies to treat and detect these specific hematologic complications. In recent years, extracellular vesicles (EVs) have garnered interest due to their role in cell-to-cell communication, including angiogenesis, immune responses and coagulation activation. Their multifaceted role depends on the cellular origin and cargo, making them potential diagnostic biomarkers and therapeutic agents. The present review highlights recent advances in understanding the involvement of EVs in hypercoagulability in thalassemia, the characterization of circulating EVs and the potential for using EVs as predictive biomarkers. β-Thalassemia intermedia exhibits a high incidence of thromboembolic events, contributing to significant morbidity and mortality. Advanced technologies have enabled the profiling and characterization of circulating EVs in patients with β-thalassemia through various techniques, including flow cytometry, proteomic studies, reverse transcription-quantitative PCR, transmission electron microscopy, nanoparticle tracking analysis and western blot analysis. Microparticles from splenectomized β-thalassemia/hemoglobin E patients induce platelet activation and aggregation, potentially contributing to thrombus formation. The abundance of these microparticles, primarily released from platelets and damaged red cells, may have a role in thromboembolic events and other clinical complications in thalassemia. This suggests a promising future for EVs as diagnostic and predictive biomarkers in thalassemia management.

Cardiac complications in thalassemia throughout the lifespan: Victories and challenges.

Thalassemias are among the most common hereditary diseases in the world because heterozygosity offers protection against malarial infection. Affected individuals have variable expression of alpha or beta chains that lead to their unbalanced utilization during hemoglobin formation, oxidative stress, and apoptosis of red cell precursors prior to maturation. Some individuals produce sufficient hemoglobin to survive but suffer the vascular stress imposed by chronic anemia and ineffective erythropoiesis. In other patients, mature red cell formation is insufficient, and chronic transfusions are required-suppressing anemia and ineffective erythropoiesis but at the expense of iron overload. The cardiovascular consequences of thalassemia have changed dramatically over the previous five decades because of evolving treatment practices. This review summarizes this evolution, focusing on complications and management pertinent to modern patient cohorts.

Perturbations in lipid metabolism and gut microbiota composition precede cardiac dysfunction in a mouse model of thalassemia.

Cardiomyopathy is a major complication of thalassemia, yet the precise underlying molecular mechanisms remain unclear. We examined whether altered lipid metabolism is an early driving factor in the development of cardiomyopathy using the Th3/+ mouse model of thalassemia. At age 20 weeks, male and female Th3/+ mice manifested anemia and iron overload; however, only males displayed metabolic defects and altered cardiac function. Untargeted lipidomics indicated that the circulating levels of 35 lipid species were significantly altered in Th3/+ mice compared to wild-type controls: triglycerides (TGs) with saturated fatty acids (FAs; TG42:0 and TG44:0) were elevated, while TGs with unsaturated FAs (TG(18:2_20:5_18:2 and TG54:8)) were reduced. Similarly, phosphatidylcholines (PCs) with long chain FAs (palmitic (16:0) or oleic (18:1)) were increased, while PCs with polyunsaturated FAs decreased. Circulating PC(16:0_14:0), GlcCer(d18:1/24:0) correlated significantly with iron overload and cardiac hypertrophy. 16S rRNA gene profiling revealed alterations in the intestinal microbiota of Th3/+ mice. Differentially abundant bacterial genera correlated with PC(39:6), PC(18:1_22:6), GlcCer(d18:1/24:1) and CE(14:0). These results provide new knowledge on perturbations in lipid metabolism and the gut microbiota of Th3/+ mice and identify specific factors which may represent early biomarkers or therapeutic targets to prevent development of cardiomyopathy in β-thalassemia.

Hypocalcemia in thalassemia major patients requires an extra-careful approach

Thalassemia is a hematological disorder caused by a gene mutation that leads to defective synthesis of hemoglobin complex. One of the complications of thalassemia is hypocalcemia which is presented with paresthesia, muscle spasm, low-serum calcium, and intracranial calcification. Hypocalcemia can affect thalassemic patients via various mechanisms. Blood transfusion-related and transfusion-independent iron overload, drug side effects, vitamin D3 deficiency, and genetic disorders and polymorphisms are among the etiologies of hypocalcemia in major thalassemia. A careful approach to the differential etiology of this phenomenon is crucial for a resultful treatment.

β-thalassemia intermedia with autoimmune hemolytic anemia and multiple cholelithiasis complications

The most recommended treatment for β-thalassemia is blood transfusion, but this treatment leads to a number of complications such as iron overload, transfusion reactions, infections, alloimmunization, and formation of autoantibodies. Autoimmune hemolytic anemia (AIHA) in β-thalassemia where alloimmunization reactions occur due to repeated transfusions is an extremely rare complication with only 5% of cases. In this case report, the patient responded well to corticosteroids and cyclosporine. The risk of alloimmunization in patients with β-thalassemia who receive transfusions can be minimized by screening for suitable genotypes, antibodies, and phenotypes prior to transfusion. Meanwhile, cholelithiasis is described as one of the most common complications of thalassemia; of 261 patients, the total prevalence of cholelithiasis was 20.3%. Typical cholelithiasis in thalassemia is black pigment stones. Asymptomatic cholelithiasis does not require treatment as its course and progression to symptomatic disease is relatively low. This case report discusses about a 23-year-old woman with β-thalassemia intermedia who developed complications of AIHA and cholelithiasis.

Evaluation of diastolic dysfunction in multi-transfused thalassemia patients

Background: An important complication of thalassemia is iron deposition in the cardiac tissue resulting in degeneration, fibrosis and dysfunction. Cardiac disease is the primary cause of death. Aims and objectives were to detect early cardiac involvement in patients with transfusion dependent thalassemia by conventional doppler echocardiography and tissue doppler imaging while they are still asymptomatic. Methods: 150 patients in the age group of 2-18 years who were receiving regular and frequent blood transfusions were enrolled in this study. Institutional ethical clearance was taken. After informed consent, 2D echocardiography was performed on all the patients. Previous blood reports reviewed. Various parameters like mitral flow pattern, LVEF and Tricuspid regurgitant jets were taken into account to diagnose cardiac dysfunction. Results analysed by standard statistical tests. Results: Out of 150 patients, 58% were males and 42% were female patients. The 13 (8.6%) patients were diagnosed as having diastolic dysfunction. Out of 150, majority (86.6%) were below the age of 15 years, 81.33% children were diagnosed as having thalassemia before the age of 2 years, 97% patients were on regular iron chelation therapy, 32% patients had pre-transfusion Hb &lt;7 gm/dl, 78.66% patients had S. ferritin levels &gt;2500 ng/ml and more number of males (7.33%) have undergone splenectomy than females. Conclusions: Diastolic dysfunction on Doppler echocardiography is an early sign of myocardial dysfunction in patients with beta thalassemia.

Impact of chelator treatment on post-transfusion hemochromatosis in thalassemic patients under Deferasirox

The management of beta thalassemia may require periodic blood transfusions, iron chelation therapy, and bone marrow or stem cell transplantation. This study is a descriptive retrospective analysis of clinical, biological, and therapeutic parameters to evaluate the impact and effectiveness of chelation therapy in managing post-transfusional hemochromatosis in 26 β-thalassemia patients treated at the Hussein Dey University Hospital Center in Algiers, Algeria. The results of this study show a certain correlation between the doses of iron chelators taken and the improvement in ferritin levels and creatinine clearance, which is indicative of a reduction in renal function impairment. Five profiles were identified based on this relationship. The study also found that all patients had normal kidney function, but there was a tendency towards a decrease in creatinine clearance, necessitating continuous monitoring. It is important to note that even with careful monitoring, complications of thalassemia may occur gradually and at a late onset. This study highlights the need to integrate pharmaceutical practices and introduce the concept of clinical pharmacy to improve adherence to long-term chelation therapy and ultimately enhance survival in children with major thalassemia.

Clinical features and risk factors of renal dysfunctions in thalassemic patients.

Chronic anemia, iron overload, and iron chelation therapy are the main contributing factors for renal complications in thalassemia, e.g., nephrolithiasis, glomerular disease, and renal tubular dysfunction. The prevalence and associated factors for developing renal dysfunctions in Thai patients with thalassemia, however, remained limited. This study aimed to determine the prevalence and risk factors of renal dysfunctions in patients with thalassemia. A cross-sectional study was conducted on adult patients with thalassemia disease at Srinagarind Hospital, Khon Kaen University, Thailand. All patients were evaluated for complete blood count, blood chemistry, urinalysis, and urine biochemistry. Renal tubular dysfunction was defined as existing in at least one of the following parameters including; proteinuria, hypercalciuria, hypouricemia with uricosuria, or hypophosphatemia with phosphaturia. Logistic regression analysis was used to identify associated factors for renal dysfunctions. Of 105 patients, renal tubular dysfunction was found in 60 patients (57.1%). In multivariate analysis of the clinical risk factors for renal tubular dysfunction in thalassemia patients, age per 10year increase (adjusted odds ratio [AOR] = 1.4, 95% CI: 1.0-2.0, pvalue 0.01) and Hb E/beta-thalassemia (AOR = 3.6, 95% CI: 1.3-10.3, pvalue 0.01) were statistically proven to be associated with renal tubular dysfunction. Hyperuricosuria was a significantly associated factor for microhematuria. (AOR = 2.9, 95% CI: 1.1-8.0, pvalue 0.03). Renal dysfunctions are prevalent in thalassemia patients, with older age and Hb E/beta-thalassemia genotype as significant risk factors for renal tubular dysfunction. Hyperuricosuria is a risk factor for microhematuria. Renal dysfunctions should be recognized and monitored in aging patients with Hb E/beta-thalassemia.

Lessons identified from initiating a thalassaemia programme in a conflict setting: a case study from northeast Syria

BackgroundThalassaemia affects many families in Northeast Syria, an area devastated by over a decade of conflict which has significantly impacted their health system. People with thalassaemia require holistic multidisciplinary care for the clinical complications of thalassaemia. The risks of thalassaemia treatment include blood-borne viral infections secondary to unsafe transfusion, increased vulnerability to serious bacterial infection following splenectomy, and complications of both iron overload and iron chelation therapy. Médecins Sans Frontières (MSF) provided outpatient thalassaemia care programmes in northeast Syria between April 2017 October 2019 in a complex conflict context challenged by population displacement, the destruction of medical facilities, and periods of insecurity.MethodsWe performed a secondary descriptive analysis of the thalassaemia cohort data to describe basic clinical and demographic characteristics of the patient population. A desk review of internal and publicly available documents was supplemented by informal interviews with MSF staff to describe and analyse the programmatic approach.Case descriptionMSF delivered programmes with thalassaemia investigations, provision of blood transfusion, iron chelation therapy, and psychosocial support. Thalassemia programmes were novel for the organisation and operational learning took place alongside service implementation. Lessons were identified on equipment procurement and the requirements for the implementation of vital investigations (including ferritin testing), to inform clinical decision making. Lessons included the importance of supply planning for sufficient blood products to meet diverse clinical needs in a conflict area, so those with thalassaemia have continued access to blood products among the competing priorities. Iron chelation therapy met a large need in this cohort. Adapted protocols were implemented to balance social factors, hygiene considerations, toxicity, tolerability, and adherence to therapy. Wider service needs included considerations for family planning advice and services, continuity of care and patient access through decentralised services or laboratory access, psychosocial support, and improved data collection including quality of life measurements to understand the full impact of such programmes.ConclusionsAlthough this type of programming was not “routine” for the organisation, MSF demonstrated that life-sustaining thalassaemia care can be provided in complex conflict settings. International non-governmental organisations can consider this care possible in similar contexts.

Treatment of dental and orthodontic complications in thalassaemia.

Thalassaemia is a quantitative abnormality of haemoglobin caused by mutations in genes controlling production of alpha or beta globins. Abnormally unpaired globin chains cause membrane damage and cell death within organ systems and destruction of erythroid precursors in the bone marrow, leading to haemolytic anaemia. The life-long management of the general health effects of thalassaemia is highly challenging, and failure to deal with dental and orthodontic complications exacerbates the public health, financial and personal burden of the condition. There is a lack of evidence-based guidelines to help care seekers and providers manage such dental and orthodontic complications. This review aimed to evaluate the available evidence on methods for treating dental and orthodontic complications in people with thalassaemia to inform future recommendations. This is an update of a Cochrane Review first published in 2019. To assess different methods for treating dental and orthodontic complications in people with thalassaemia. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Haemoglobinopathies Trials Register in September 2022, and we searched nine online databases and trials registries in January 2022. We searched the reference lists of relevant articles and reviews and contacted haematologists, experts in fields of dentistry, organisations, pharmaceutical companies and researchers working in this field. We searched for published or unpublished randomised controlled trials (RCTs) that evaluated treatment of dental and orthodontic complications in individuals diagnosed with thalassaemia, irrespective of phenotype, severity, age, sex and ethnic origin. Two review authors independently screened the 37,242 titles retrieved by the search. After deduplication, we identified two potentially relevant RCTs. On assessing their eligibility against our inclusion and exclusion criteria, we excluded one and included the other. We included one parallel-design RCT conducted in Saudi Arabia and involving 29 participants (19 males, 10 females) with thalassaemia. It aimed to assess the effectiveness of photodynamic therapy as an adjuvant to conventional full-mouth ultrasonic scaling for the treatment of gingivitis. The average age of participants was around 23 years. There is very low-certainty evidence from this trial that full-mouth ultrasonic scaling plus photodynamic therapy compared to full-mouth ultrasonic scaling alone may improve gingival index score and bleeding on probing after 12 weeks in people with thalassaemia. We found no studies that assessed other interventions for the various dental or orthodontic complications of thalassaemia. Although the included study showed greater reduction in gingivitis in the group treated with full-mouth ultrasonic scaling plus photodynamic therapy, the evidence is of very low certainty. The study had unclear risk of bias, a short follow-up period and no data on safety or adverse effects. We cannot make definitive recommendations for clinical practice based on the limited evidence of a single trial. Future studies will very likely affect the conclusions of this review. This review highlights the need for high-quality RCTs that investigate the effectiveness of various treatment modalities for dental and orthodontic complications in people with thalassaemia. It is crucial that future trials assess adverse effects of interventions.

Role of Thromboelastogram in monitoring the activation of the coagulation pathway and assessing the associated risk factors for hypercoagulable state in transfusion dependent thalassemia patients

BackgroundThromboembolic events are rare but one of the fatal complications in thalassemia. Assessment of the hypercoagulable state is not done regularly, and we have assessed the utility of Thromboelastography (TEG) for monitoring the activation of the coagulation pathway in patients with thalassemia. MethodologyA prospective single-center cohort study was conducted in a tertiary care set-up. Transfusion Dependent Thalassemia patients registered with the pediatric unit were screened for hypercoagulability using TEG during six months of the study period and followed up for three years for the development of thromboembolic events. Patient demographics, history of splenectomy, Serum ferritin levels and annual red cell transfusion requirement (mL/kg/year) were assessed. TEG parameters used were R time, K time, alpha angle, Maximum amplitude, Clot index, and Lysis 30. The thrombin generation test (V Curve) obtained from the first-degree derivate of the TEG velocity curve was also used for analysis. ResultsA total of 34 patients were recruited during the six months study period with an average age of 10.6 years ( ± 5.47). The average pre-transfusion hemoglobin level and the volume of packed red cells received were 7.24 g/dL and 152.82 mL/kg/year respectively. The TEG tracing was suggestive of a hypercoagulable state in 58.82% of patients. The mean values of angle (70.74), MA (64.16), CI (2.65) and TG (774.43) in TDT patients compared to age matched reference range (62.81, 57.99, 0.8, 577.83 respectively) was suggestive of prothrombotic changes. Annual blood transfusion requirement was negatively correlated with hypercoagulable status (‐0.344, CI= -0.68 to 0.08). One out of 34 patients developed corona radiata infarct (with annual blood requirement; 112.7 mL/kg/Year). The risk to develop a hypercoagulable state appeared to be higher when the volume of RBCs transfused was less than 154 mL/kg/Year. ConclusionTDT patients are at risk of developing thromboembolism, and screening with TEG may be useful to identify those at high risk.

Manifestations of beta thalassaemia in the dental setting: a case report

The craniofacial manifestations of beta thalassaemia are widely reported, and occur as a result of inadequate haematopoiesis leading to marrow space expansion. Secondarily, extramedullary haematopoiesis can occur throughout the body, although this is rarely reported in the paranasal sinuses. We discuss the systemic and craniofacial manifestations of beta thalassaemia major, with a focus on the radiological findings, as illustrated in a case of a 55-year-old male patient who was referred to the dental hospital as a result of complications of thalassaemia. This case report focuses on the effects of thalassaemia that may be encountered in a dental setting and highlights the radiological findings that clinicians should be aware of. CPD/Clinical Relevance: Dental and craniofacial manifestations, and their management, are discussed for patients with beta thalassaemia.

Diagnostic Modalities in Detecting Cardiovascular Complications of Thalassemia.

Thalassemia major is the most common monogenetic disorder worldwide, manifested as chronic hemolytic anemia. This condition leads to the need for chronic blood transfusion to be monitored for an iron overload that may be stored in several tissues and organs, including cardiomyocytes, that might cause a broad spectrum of cardiac iron toxicities such as heart failure conduction delays, myocarditis, and arrhythmias. Non-invasive imaging modalities have their benefits and limitations. Each modality complements and generates a comprehensive diagnostic and monitoring of cardiac siderosis in thalassemia major patients.