Research status of ocular changes in beta-thalassemia major / 国际眼科杂志(Guoji Yanke Zazhi)

Beta-thalassemia major(β-TM)is an inherited disease caused by a defect in the synthesis of globin. The disease requires long-term blood transfusion and iron chelator treatment, which can cause various secondary changes in the body and eye tissues. Compared with normal peers, β-TM patients will show changes in the eye such as steeper corneal curvature, shallower anterior chamber, increased lens thickness, shorter axial length, and reduced tear secretion. At the same time, nutritional deficiencies and the use of iron chelator drugs will increase the risk of complicated cataract and retinal degeneration, thus affecting the quality of life of β-TM patients.This article combines relevant domestic and foreign literatures to explore and review the changes in the eye of β-TM patients, with a view to providing valuable insights for clinical practice.

Lipids profile in children and adolescents with b-thalassemia major

ABSTRACT Introduction: Patients with β-thalassemia major (β-TM) are at risk of developing abnormal lipid profiles. Lipid abnormalities, in turn, have a potential role in the pathogenesis of some clinical aspects of thalassemia Objectives: To evaluate lipid levels and atherogenic indices in β-TM patients compared to healthy children and for any association between lipid levels, lipid peroxidation and inflammatory biomarkers Methods: This case-control study was carried out on 79 patients with β-TM, aged 6 to 16 years, registered at the Basrah Center for Hereditary Blood Diseases and 85 age- and sex-matched apparently healthy children and adolescents. Complete blood count, serum lipids and ferritin, liver function tests, C-reactive protein (CRP), high-sensitivity CRP (hs-CRP) and serum malondialdehyde (MDA) were evaluated Results: Patients with β-TM had significantly lower hemoglobin (Hb), total cholesterol (TC), high-density lipoprotein (HDL), low-density lipoprotein (LDL) and non-high-density lipoprotein (non-HDL) and significantly higher very low-density lipoprotein (VLDL), triglycerides (TGs), LDL/HDL ratio, MDA, hs-CRP, total serum bilirubin (TSB), alanine aminotransferase (ALT) and aspartate aminotransferase (AST) than the control group (p < 0.05). A bivariate analysis revealed that TC has a significant positive association with Hb. The TG has a significant negative association with Hb and a positive association with serum ferritin. Furthermore, MDA, TG, TSB, ALT and AST were significantly positively correlated with serum ferritin (p < 0.05) Conclusions: Atherogenic dyslipidemia, defined as a high low-density lipoprotein cholesterol (LDL-C/high-density lipoprotein cholesterol (HDL-C) ratio and high TG level, is common among pediatric β-TM patients, it is associated with iron overload and places patients at an increased cardiovascular risk.

Prevalence of hypogonadism in transfusion-dependent ß-thalassemia patients of Bangladesh: investigating the role of serum ferritin level as a diagnostic tool

ABSTRACT Introduction: Hypogonadism is one of the most frequent complications in transfusion-dependent thalassemia patients and early recognition and treatment is the core element in restoring impaired gonadal function. Despite the high burden of disease, relevant studies are scarcely addressing the gonadal function of such patients in Bangladesh. The pattern of gonadal function in transfusion-dependent thalassemia patients must be characterized before planning a generalized management plan. Moreover, since iron overload is a key reason behind hypogonadism in thalassemia patients, investigating the role of serum ferritin level as a diagnostic tool for hypongadism was also an aim of this study. Methods: This cross-sectional study was conducted at the Department of Transfusion Medicine of the Bangabandhu Sheikh Mujib Medical University. According to the inclusion and exclusion criteria, a total of 94 patients were enrolled in this study. A detailed history and thorough clinical examination were carried out in each patient and recorded using a pretested structured questionnaire. In addition, the laboratory assessment of serum ferritin, luteinizing hormone (LH), follicle stimulating hormone (FSH), testosterone and estradiol in serum were also performed. The data were analyzed using the STATA (v.16). Results: The mean age of the patients with transfusion-dependent thalassemia was 18.81 ± 4.65 (SD), with 53.3% of the patients being male. The overall prevalence of hypogonadism was 35.11%, 18.1% being normogonadotropic, 11.7% being hypogonadotropic and 5.3% being hypergonadotropic. The serum ferritin level was significantly higher (p < 0.001) in patients with hypogonadism (Eugonadal: 2,174.79 (± 749.12) ng/ml; Hypogonadal: 3,572.59 (± 1,199.49) ng/ml). The area under the receiver operating characteristic (ROC) curve of serum ferritin was high (0.83) and the p-value was highly significant (< 0.001). Conclusion: Therefore, the serum ferritin level and gonadal hormone analysis of transfusion-dependent thalassemia patients can be considered a screening tool for assessing gonadal function and early detection and prevention of hypogonadism.

New cost-effective human leukocyte antigen testing algorithm for screening of human leukocyte antigen-matched related donor in thalassemia major patient pretransplant workup: A single-center study from resource-constrained settings

Introduction: India has a huge disease burden of thalassemia major with an estimated 40 million carriers and over a million thalassemia major patients. Very few patients are optimally treated, and the standard of care “hematopoietic stem cell transplant” (HSCT) is out of reach for most patients and their families. The cost of HSCT is significant, and a substantial proportion of it goes to human leukocyte antigen (HLA) testing of family members (HLA screening) in hope of getting a matched related donor (MRD) for HSCT. The aim of this study was to establish that a new proposed testing algorithm of HLA typing would be more cost-effective as compared to the conventional HLA screening within MRD families for possible HSCT. Material and Methods: Buccal swab samples of 177 thalassemia patients and their prospective family donors (232) were collected. Using a new HLA testing algorithm, samples were tested for HLA typing in a sequential manner (first HLA-B, then HLA-A, and finally HLA-DR) using the sequence-specific oligonucleotide probe method on the Luminex platform. Results: The new sequential HLA-A, HLA-B, and HLA-DRB1 testing algorithm showed a 49.1% reduction in cost compared to the conventional HLA testing algorithm. Furthermore, 40 patients (22.59%) were found to have HLA-MRD within the family among other samples that were tested. Conclusion: The new HLA testing algorithm proposed in the present study for identifying MRD for HSCT resulted in a substantial reduction in the cost of HSCT workup.

Safety and efficacy of combination of oral iron chelators in thalassemia major patients

Background: To assess the safety and efficacy of combination of oral iron chelation therapy in transfusion dependent thalassemia patients and to compare it with other regimes.Method: 150 transfusion dependent thalassemia patients with iron overload were recruited for a prospective, case control study. They were divided into 4 groups based on their chelation regime. The drugs used were deferasirox (DFX) alone, deferiprone (DFP) alone, DFP+DFX in combination, parenteral desferrioxamine (DFO) with either DFX or DFP with 50, 15, 70 and 15 in each group respectively. Doses used were DFX-30 mg/kg, DFP- 75 mg/kg/day, DFP+DFX-50 +30 mg/kg/day, DFO+DFP-25 mg/kg/d+50 mg/kg/day and DFO+DFX-25 mg/kg/d +30 mg/kg/d daily. Base line haematological, hepatic and renal profile and S. ferritin samples were collected and analyzed. Patients were monitored monthly for compliance and side effects. 30 patients were excluded during the course of study. Tests were repeated after 18 months period and the results of 120 patients were compared between the groups and statistically analyzed.Results: There was statistically significant reduction of S. ferritin in both groups taking oral combination therapy and parenteral therapy (p<0.0001). There were no serious hematological, renal/hepatic side effects in any groups.Conclusions: The oral combination therapy of iron chelators is safer and was well tolerated by all the patients and is similarly efficacious to the parenteral therapy in lowering S. ferritin.

Peripheral blood stem cells collection in pediatric patients with thalassemia major weighing 20 kilogram or less / 中国输血杂志

【Objective】 To evaluate the safety and efficacy of the collection of peripheral blood stem cells (PBSCs) in pediatric patients with thalassemia major (TM) weighing 20 kg or less. 【Methods】 PBSCs collection data of 170 pediatric patients with TM weighing 20 kg or less from January 2013 to December 2020 in our center were reviewed. Safety was assessed by the occurrence of adverse events during apheresis procedures, and efficacy was evaluated by the number of CD34+ cells collected. 【Results】 A total of 171 PBSCs procedures were performed on 170 patients with TM weighing 20 kg or less, with a median age of (4.98±1.53) years and a median weight of (17.30±2.18) kg. The probability of collecting at least 1×106 CD34+ cells/kg during a single course of apheresis was 99.41% (169/170), with a median (5.88±4.23) ×106 CD34+ cells collected per kg of weight of the recipient. A minimum pre-apheresis hemoglobin (Hb) of 60 g/L in patients with TM weighing 20 kg or less was safe and feasible. The most common adverse event of G-CSF mobilization in TM patients is bone pain, with the incidence of 7.65% (13/170), which was higher than that of healthy children donors in our center. The most common adverse events during the collection were pain at the puncture site of the femoral vein (6.47%, 11/170) and low pressure of the fluid (2.92%, 5/170). And no serious complications related to PBSCs mobilization, central venous catheter(CVC)placement or the apheresis procedure occurred. 【Conclusion】 PBSCs collection by COM.TEC blood cell separator in children weighing 20 kg or less is safe and efficacious.

Risk factors for hemorrhagic cystitis in children with β-thalassemia major after allogeneic hematopoietic stem cell transplantation / 中国当代儿科杂志

OBJECTIVES@#To explore the risk factors for hemorrhagic cystitis (HC) in children with β-thalassemia major (TM) undergoing allogeneic hematopoietic stem cell transplantation (allo-HSCT).@*METHODS@#A retrospective analysis was conducted on clinical data of 247 children with TM who underwent allo-HSCT at Shenzhen Children's Hospital from January 2021 to November 2022. The children were divided into an HC group (91 cases) and a non-HC group (156 cases) based on whether HC occurred after operation. Multivariable logistic regression analysis was used to explore the risk factors for HC, and the receiver operating characteristic curve was used to analyze the predictive efficacy of related factors for HC.@*RESULTS@#Among the 247 TM patients who underwent allo-HSCT, the incidence of HC was 36.8% (91/247). Univariate analysis showed age, incompatible blood types between donors and recipients, occurrence of acute graft-versus-host disease (aGVHD), positive urine BK virus deoxyribonucleic acid (BKV-DNA), and ≥2 viral infections were associated with the development of HC after allo-HSCT (P<0.05). Multivariable analysis revealed that incompatible blood types between donors and recipients (OR=3.171, 95%CI: 1.538-6.539), occurrence of aGVHD (OR=2.581, 95%CI: 1.125-5.918), and positive urine BKV-DNA (OR=21.878, 95%CI: 9.633-49.687) were independent risk factors for HC in children with TM who underwent allo-HSCT. The receiver operating characteristic curve analysis showed that positive urine BKV-DNA alone or in combination with two other risk factors (occurrence of aGVHD, incompatible blood types between donors and recipients) had a certain accuracy in predicting the development of HC after allo-HSCT (area under the curve >0.8, P<0.05).@*CONCLUSIONS@#Incompatible blood types between donors and recipients, occurrence of aGVHD, and positive urine BKV-DNA are risk factors for HC after allo-HSCT in children with TM. Regular monitoring of urine BKV-DNA has a positive significance for early diagnosis and treatment of HC.

A rare case of bronze diabetes in a patient with thalassemia

Secondary haemochromatosis (also known as bronze diabetes) is a perilous medical condition that can occur as a complication of frequent blood transfusions. Thalassemia major which occurs due to a decrease in the beta globulin chain can lead to severe anemia, extramedullary hematopoiesis and splenomegaly. Becauseof this, the affected patients requiredcontinuous blood transfusions throughout their life and as a consequence, it may lead to iron overload. A 26-year-old male presented with a complaint of darkening skin, joint pain and fever. He was a known case of thalassemia major and was undergoing blood transfusions three times a week. Further laboratory findings revealed decreased hemoglobin, abnormal liver function tests and increased blood glucose levels. The patient was managed with IV insulin and chelation therapy. The patient responded to treatment and was better on subsequent follow-up. The diagnostic and therapeutic challenges along with the epidemiological dataemphasize the need of raising the awareness of physicians to this devastating condition.

Clinical study of unrelated mismatched hematopoietic stem cell transplantation for β-thalassemia major / 中华器官移植杂志

Objective:To explore the efficacy and safety of unrelated mismatched hematopoietic stem cell transplantation(HSCT)for thalassemia major.Methods:For this retrospective cohort study, 15 patients with β-thalassemia major underwent unrelated mismatched HSCT between January 2018 and April 2022. There were 8 males and 7 females with a median age of 7(3-12)years and a median ferritin level of 3 417.3(223-14 485)μg/L. The conditioning regimens on the basis of fludarabine(Flu), busulfan(Bu)and cyclophosphamide(CTX)and GVHD prophylaxis on the basis of cyclosporine(CsA), mycophenolate mofetil(MMF), anti-human thymocyte immunoglobulin(ATG)plus low-dose post-cyclophosphamide(PTCy)and mesenchymal stem cells were offered.Results:Up until April 1, 2022, 15 children were successfully implanted during a median follow-up period of 24.1(11-49)months and all of them achieved stable donor chimerism. The median time to neutrophil and platelet engraftment were 12(11-22)and 14(8-38)days respectively. Except for 2 deaths, 13 cases survived. The estimated 2-year probability of overall survival(OS)and thalassemia-free survival(TFS)were both 86.67%. There were 5 cases of acute graft versus host disease (aGVHD) below grade Ⅱ, 2 cases of grade Ⅲ to Ⅳ aGVHD, and 3 cases of localized chronic graft versus host disease (cGVHD) after transplantation. No gengralized cGVHD occurred. Both cytomegalovirus and Epstein-Barr virus were activated in five recipients.Conclusions:Unrelated mismatched donor HSCT is both safe and feasible for thalassemia major.

Oro-facial Manifestations, Oral Health Status and Treatment Needs in Transfusion Dependent Children With β-thalassemia Major: A Cross-sectional Study

@#Introduction: β-Thalassemia is genetic disorder which clinically presents as anaemia due to decreased production of beta-chains of haemoglobin molecule. Literature on oro-facial manifestations, oral health status is sparse and inconclusive in the β-thalassemia major patients (TM). Methods: This cross-sectional study was done to assess oro-facial manifestations of β-Thalassemia. 31 TM patients in the age group of 6-18 years were clinically examined and oro-facial manifestations were recorded. Oral health status including oral hygiene status, dental caries, gingival status of these TM children was compared with 42 healthy children. The mean values were compared using Student’s t-test. Treatment needs of both the groups were recorded using WHO oral health assessment form. Results: Lip incompetence (38.75%) and maxillary protrusion (19.35%) were most common oro-facial manifestations of Thalassemia major. Mean OHI-S score for TM and healthy children were comparable 1.73 ± 1.10 and 1.36 ±1.17 respectively (p=.178) but mean GI score for TM was higher than healthy children, 1.42±.39 and .94±.51 respectively (p<.05). Mean DMFT scores for TM and healthy children were 1.5±1.8 and 1.2±2.1 respectively (p=.578). Treatment needs was relatively higher among TM children with 58% of these children requiring one surface filling. Conclusion: Lip incompetence followed by maxillary protrusion were most common oro-facial manifestations of Thalassemia major. There is no significant association between oral hygiene and dental caries with Thalassemia major. However, thalassemia major is associated with gingivitis. Treatment requirement was relatively higher among TM children with one surface filling being the commonest need.

Comparative metavirome analysis in polytransfused patients

Due to the high transfusion volume, polytransfused patients with sickle cell disease (SCD) and beta-thalassemia are constantly exposed to parenterally transmitted infections. Currently, we have little information about the virome of such patients and how the virological composition might be influenced by the hemotherapy procedures that these patients receive. The objective of this study was to compare the viral diversity between these two groups with respect to the viral abundance and how it might be affected by the specific conditions of these groups. We sequenced by next-generation sequencing (NGS) and compared the virome of 30 patients with beta-thalassemia major, 45 with SCD, and 16 blood donors from the Blood Center of Ribeirão Preto, Brazil. Predominantly, commensal viruses including Torque teno virus (TTV) genotypes and human pegiviris-1 (HPgV-1) were identified in each group. Strikingly, while HPgV-1 reads were dominant in the SCD group, thalassemic patients showed high TTV abundance, expressed both in viral reads and genotypes. We speculated that the commensal virome of polytransfused patients might be influenced by the transfusion frequency and disease characteristics and that commensal viruses might be used as important genetic biomarkers for these hematological disturbances. Nevertheless, more specific studies are necessary to confirm a relationship between blood virome and transfusion treatment.

P-Wave and QT Dispersion in Children With βeta-Thalassemia

Aim:This study aimed atassessingP-wave and QT interval dispersion in children with β-thalassemia and to correlate them with various laboratory and echocardiographic data. Methodology:Subjects comprised of 30 children with β-thalassemia major as the patient group. 30 healthy children matched for age and sex served as the control group. All patients were evaluated clinically as well as by echocardiography and 12 leads ECG. The type of study isprospective case control study.Results:There was a statistically significant increase ofInterventricular Septal end diastole(IVSd),Interventricular Septal end systole(IVSs),Left Ventricular Internal Diameter end diastole (LVIDd), Left Ventricular Internal Diameter end systole(LVIDs) andLeft Ventricular Posterior Wall end diastole(LVPWd) in patients as compared to controls (Mean ±SD = 0.950±0.166, 0.863±0.103, 3.983±0.456, 2.947±0.535and 0.797±0.165 respectively) (P < 0.05). Moreover, there were a significant increase of LV mass (Mean ±SD = 107.267±26.736, P= 0.002) and LV mass index of the studied patients (Mean ±SD = 106.900±22.651, P = 0.005)compared to the controls. There were significant decrease ofejection fraction(EF%)(Mean ±SD = 60.373 ± 8.088, P = 0.032)and fractional shortening(FS%) (Mean ±SD = 29.495 ± 4.171, P = 0.026) of the studied patients compared to control group. Both P wave dispersion (PWd) (Mean ±SD = 33.667 ± 13.767, P = 0.029) and QT dispersion (QTd) (Mean ±SD = 53.000 ± 18.411, P = 0.001) were significantly higher in patients compared to controls. There was a significant positive correlation between PWd and serum ferritin(r =0.551,P-value=0.002), LVIDd (r =0.406,P-value=0.026), LVPWd(r =0.461,P-value=0.010), LV mass (r =0.412,P-value=0.024), and LV mass index(r = 0.379,P-value=0.039). While, there were a significant positive correlations between QTd and serum ferritin (r =0.654,P-value <0.001), LVIDd (r = 0.388,P-value =0.034), LV mass (r = 0.454,P-value =0.012)and LV mass index (r = 0.456,P-value =0.011). Conclusion:P wave dispersion and QT dispersion were prolonged in children with β-thalassemia major denoting cardiac autonomic dysfunction with homogeneity disorders of atrial conduction and ventricular repolarization in these patients

Study of Ocular Manifestations among Beta Thalassemia Major Patients

Person with thalassemia major may have severe symptoms and may need regular blood transfusions. Iron overload is due to repeated blood transfusions and enhanced iron absorption by gastrointestinal tract and also creates negative impact on the organs function. We aimed to study the ocular changes in beta thalassemia major at a tertiary care hospital. Methods: In this prospective observational study, 234 patients diagnosed with beta thalassemia major, receiving multiple blood transfusions as a part of treatment were included. Patient brief history was taken, along with family history. Complete eye examination done. Ocular examination done by measuring visual acuity, refractive error assessment with autorefractometer, slit lamp examination, fundoscopy, perimetry, tonometry, color vision testing and tear break up time (TBUT) test. Results: A total of 234 beta thalassemia major patients of both sexes were evaluated, among them 132 (56.4%) were males and 102 (43.5%)were females. The mean age of thalassemic study population was 25.6±6.3. Most commonly observed were pinguecula (44%), visual field defects (40.5%), vascular tortuosity (39.3%), dry eye (33.3%), Refractive error (20.5%), Anterior segment involvement (18.8%), Cataract (13.2%), color vision defect (5.1%), normalization of optical vessels (4%). Conclusion: Regular Opthalmological examination helps to detect early changes due to disease and chelating agents. Issue of iron overload among thalassemic patients can be reduced by decreasing the need or the frequency of blood transfusions.

Study of serum calcium, phosphorus and vitamin D status in multitransfused ?-thalassemia major children and adolescents of Jharkhand, India

Background: The pattern of levels of calcium, phosphorous and vitamin D levels among the patients with thalassemia major undergoing repeated blood transfusions remain unexplored. Only very few studies have been undertaken among Indian population. The present study was an attempt to determine the levels of calcium, phosphorous and vitamin D levels among thalassemia major patients undergoing repeated multiple transfusions.Methods: In a prospective observational study, 65 patients suffering from ?-thalassemia major, aged 2-18 years, having undergone regular blood transfusion and chelation therapy, were evaluated for the levels of serum calcium, phosphorus and vitamin D and the values were compared to the standard values of the same.Results: The mean values of serum calcium (6.72'0.66), phosphorous (5.51'1.07) and vitamin D (13.12'2.9) were significantly lower in our patients as compared to that of standard population values, the difference in each being statistically significant (p<0.05).Conclusions: It is evident from the present study that the levels of calcium, phosphorous and vitamin D are deficient among ?-thalassemia major patients on repeated blood transfusion. The deficiencies may be due to iron overload or due to nutritional deficiency. Frequent monitoring and supplementation in deficient states is recommended.

A study of echocardiographic changes in patients of thalassemia major

Background: Thalassemia major is a chronic hematological disorder. Regular blood transfusion is the only modality of long-term survival for these patients. This leads to iron overload, the heart being the most severely affected organ. The gold standard for detecting myocardial iron deposition is cardiac MRI. However, very few patients can afford this investigation. Hence, authors carried out this study to find out whether early iron overload can be detected by echocardiography which is a simple and less expensive tool. The objective of this study was to document echocardiographic changes of cardiac iron overload in patients of thalassemia major even before appearance of symptoms.Methods: A comparative cohort study conducted from January 2018 to October 2018 in the Department of Paediatrics of SSG Hospital, and Government Medical College, Vadodara. The case group consisted of 35 patients of Thalassemia major. 35 age and sex matched normal children were selected as controls. Relevant blood investigations were performed in cases. 2-Dimensional M-Mode Echocardiography was performed in both patients and controls. Thalassemia major patients were compared to normal healthy children for various parameters in echocardiography indicating the systolic and diastolic function. Proportion and percentage were calculated for descriptive analysis. Independent t-Test was applied between two groups to find out significance level.Results: For all parameters except End systolic volume and fractional shortening, p values were less than 0.05 which is significant. 85% (30/35) had increase in interventricular septal dimensions (IVSD), 97%(34/35) had increase in posterior wall dimensions (PWD),' 82%(29/35) had' increased left ventricular internal diameter diastole(LVIDD), 88%(31/35) had increased left ventricular internal diameter systole (LVIDS), 80%(28/35) had increased E/A RATIO .Ejection fraction was affected in 77%(27/35).This shows that patients of thalassemia major have significant cardiac dysfunction; possibly because of cardiac iron overload.Conclusions: Echocardiography is an effective tool for screening cardiac iron overload in patients of thalassemia major and should be done periodically in all patients.

Beta-Talasemia: Un mundo de complicaciones con nuevas alternativas de tratamiento / Beta-Thalassemia: A world of complications with new alternatives of treatment

Introducción: ß-talasemia, es causada por mutaciones en el gen de la globina HBB, que codifica la subunidad ß de la HbA. La enfermedad es conocida por ser altamente prevalente en el área que se extiende desde África subsahariana, a través de la región mediterránea y Medio Oriente. En Colombia, se han reportado varios estudios independientes de hemoglobinopatías en ciudades como Cartagena, Buenaventura, Cali, San Andrés y Providencia debido a su gran población afrodescendiente sobre la cual las Talasemias y otras hemoglobinopatías tienen incidencia directa. Objetivo: recolectar datos acerca de las características clínicas, complicaciones y clasificaciones de ß-talasemia con el fin de brindar una fuente de información que permita realizar un diagnóstico eficaz y en consecuencia un tratamiento que busque llegar a la curación completa de los pacientes que sufren esta condición, con el mínimo de complicaciones para los mismos. Conclusión: la ß-Talasemia es una hemoglobinopatía estructural que tiene un porcentaje de prevalencia e incidencia importante en el mundo. En Colombia no se tiene claro cuál es la epidemiología real para esta condición puesto que no se han realizado estudios que abarquen una muestra adecuada y significativa. Esta enfermedad genera múltiples complicaciones en diferentes órganos, que no solo están asociadas al desarrollo de la enfermedad, sino también a la terapia de trasfusión a largo plazo. Por esta razón, los nuevos tratamientos están encaminas a lograr en un futuro la curación completa, reduciendo al máximo las complicaciones..(AU)

Introduction: ß-thalassemia is caused by mutations in the HBB globin gene, which encodes the ß subunit of HbA. The disease is known to be highly prevalent in the area that stretches from sub-Saharan Africa, through the Mediterranean region and the Middle East. In Colombia, several independent studies of hemoglobinopathies have been reported in cities such as Cartagena, Buenaventura, Cali, San Andrés and Providencia due to their large Afro-descendant population on wich the thalassemias and other hemoglobinopathies.have direct incidence. Objective: to collect data about the clinical characteristics, complications and classifications of ß-thalassemia in order to provide a source of information that allows an effective diagnosis and a treatment that seeks to reach the complete cure of patients that have this condition. , with the minimum of complications for them. Conclusion: ß-thalassemia is a structural hemoglobinopathy that has a percentage of prevalence and incidence important in the world. In Colombia it is not clear what is the real epidemiology for this condition that has not been conducted studies that include an adequate and significant sample.This disease generates multiple complications in different organs, but not only in long-term transfusion therapy. For this reason, the new treatments are aimed at achieving complete healing in the future, minimizing complications at maximum..(AU)

Quality of life in children with thalassemia major following up at a tertiary care center in India (GOTQoL)

Background: This study aims to measure the quality of life (QoL) scores in children with thalassemia major following up at a tertiary care center for routine blood transfusion in comparison to healthy children.Methods: A case control study design was adopted, wherein on the QoL of 36 children with thalassemia in the age group 5 to 18 following up for blood transfusion at Goa Medical College, was measured using PedsQL' 4.0. This was compared to the QoL in age and gender matched healthy children from a government school. A higher score on a subscale indicates better quality of life on this instrument.Results: The children with thalassemia had lower mean scores on physical (67.85 vs 84.24; P <0.001), social (78.34 vs 87.95; P=0.002) and school (62.64 vs 79.48; P <0.001) functioning subscales compared to the healthy children. They also had lower mean psychosocial summary score (73.32 vs 82.01; P=0.003) and total health summary score (71.95 vs 82.57; P <0.001). The physical functioning subscale had significantly higher score among the children who were on chelation and also among the ones whose parents reported as being informed about the condition.Conclusions: The children with thalassemia have poor QoL in physical, social and school functioning domains. Improvement in QoL requires consolidated efforts on part of doctors, parents, school authorities and policy makers. These patients should be provided with low cost-effective chelation therapy. The parents need to be counselled about this disease by the treating team.

Demographic and Socioeconomic Profile of Transfusion Dependent Beta-Thalassemia Major Patients in Sabah

@# Thalassemia prevalence in Malaysia is highest in Sabah. This study was conducted to characterize the demographic and socioeconomic profile of transfusion-dependent β-thalassemia major patients in Sabah, to explore their parents’ background, and to identify factors associated with having more than one thalassemia major children in the family. Methods: This was a cross-sectional study conducted in Hospital Wanita dan Kanak-Kanak Sabah and Hospital Kota Belud Sabah between February 2018 and Jun 2019. A total of 108 patients attending Thalassemia Treatment Clinic at both centers were selected randomly for interview. Results: β-thalassemia major patients in this study were majority from the indigenous ethnic groups (Kadazan, Dusun, Murut, Rungus, Sungai). Parents of the thalassemia patients mostly had low education level and socioeconomic status. Thirty-seven percent of parents have more than one children with thalassemia major and a high proportion (41.7%) have intermarriages. Parents with a higher number of children in the family are associated with having more than one thalassemia major children (OR: 2.1, 95% CI: 1.5, 2.9, P-value = 1.3 x 10-5). Conclusions: A considerably high proportion of parents have more than one children with thalassemia major in this study. Knowledge and counselling are important to parents with low educational level and socioeconomic status to ensure their understanding of thalassemia risk and prevention

Faktor-faktor yang Mempengaruhi Psikososial Pesakit Kanakkanak Talasemia

@#Introduction Thalassemia disease is a serious health problem as it gives psychosocial burden not only to the patients but also to the patients’ ecosystem. Among the difficulties faced by patients are psychosocial problems, especially in the process patients’ growth and development. Therefore, this study examines what factors can influenced the psychosocial of Thalassemic patients.. Methods A cross-sectional study was carried out among 161 of Thalasemia Major children at Women and Children Hospital, Likas and Keningau District Hospital, Sabah from February to April 2013. The validated PedsQL 4.0 Generic Core Scale and Social Support questionnaire has been used. Results The results showed that the overall psychosocial score was 68.50 (SP 15.18) with the lowest average school psychosocial score of 58.38 (SP 17.82). Only gender factor showed a significant relationship with psychosocial score of emotional function. There is no significant relationship noted between other sociodemographic factors with overall psychosocial scores or with the psychosocial scores of each function. In relation to subscale social support factors, there was a significant relationship between the psychosocial scores of each function and overall with social support factors of parents, close friends, classmates and teachers. The results of linear regression multivariate analysis suggest that social support factors from classmates is a significant factor in the psychosocial impact of Thalassemia Major pediatric patients. Conclusions In conclusion, social support factors primarily from peers are very important in influencing the psychosocial of Thalassemia Major children in overcoming their life's functionality like other normal children

Research progress in hypogonadism of patients with β-thalassemia major / 国际儿科学杂志

Hypogonadism is one of the most common endocrine complications in patients with β-thalassemia major (β-TM).It can be clinically characterized by pubertal developmental delay,primary or secondary amenorrhea infertility that would significantly compromises the quality of life of patients with β-TM.Its pathogenesis is complex and may be related to long-term anemia,iron overload,decreased leptin levels,chronic liver disease,transplant pretreatment drugs and so on.Regular monitoring and active intervention are crucial for promoting adolescent development,sexual function maturation and retention of fertility in β-TM patients.However,there is no relevant guidelines and consensus in our country to guide clinicians on the followup of gonadal function in β-TM patients.This review aims to summarize the research progress in hypogonadism of patients with β-TM in order to improve the level of prevention and treatment.