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Background: Thalassemia, a prevalent genetic disorder, necessitates recurrent blood transfusions for life, precipitating iron overload and premature death. In ?-thalassemia major (BTM), hypothyroidism prevalence fluctuates (6-30%) globally, influenced by diverse chelation regimens. The objective of this study is to evaluate the thyroid hormone levels in pediatric patients diagnosed with transfusion-dependent thalassemia (TDT).Methods: A hospital-based cross-sectional study was conducted at the paediatrics department of Sir Salimullah medical college Mitford hospital, Dhaka, focusing on TDT patients aged 4 to 18 years. Exclusions comprised known cases of hypothyroidism, children receiving hormonal therapy, those with a family history of hypothyroidism, and individuals with fewer than 10 blood transfusions. Serum separation involved centrifugation at 3000 rpm for 5 minutes, with subsequent aliquoting into two screw-capped dry clean vials: 1 ml each for FT4/TSH and serum ferritin estimation. Data were analyzed using SPSS version 24.0.Results: Eighty-seven transfusion dependent thalassemia children aged between 4 to 18 years were chosen in this study. The hypothyroidism was seen in 7 (8%) patients. Of these, 4 (4.6%) participants were compensated hypothyroid and 3 (3.4%) participants were uncompensated hypothyroid. Most of the participants were hypothyroidism with Hb E-? thalassemia. The mean serum ferritin level was 2578.49�85.06 ng/ml. Positive correlation of TSH with duration of disease (in years), total number of blood transfusion times and serum ferritin were statistically significant (p<0.05).Conclusions: The present study demonstrates that 8% of the children with TDT have hypothyroidism. Hypothyroidism is more frequent among Hb E ?-thalassemic children as compared to ?-thalassemic children.
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Background: The etio-pathogenesis of growth failure in transfusion dependent thalassemia major (TDTM) children is mainly because of chronic anemia, iron overload and endocrine complications. Aim was to determine the association between anthropometric measurements with pre-transfusion haemoglobin in TDTM children.Methods: Present cross-sectional study included total 55 children between 5-18 years of age who were diagnosed as TDTM. Mean pre transfusion hemoglobin of last 1 year was obtained from previous medical records. Anthropometric measurements like weight in kg and height in cm measured while body mass index (BMI) was calculated using standard formula in each patient. Weight for age, height for age, and BMI were plotted on WHO 2006 and Indian academy of paediatrics 2015 combined growth charts in terms of percentile. Data was analysed statistically.Results: Total 55 children of TDTM between 5-18 years of age were studied. The mean age was 10.42(4.07) years. The mean weight (kg), height (cm) and BMI was 23.76 (7.5), 123.94 (18.13) and 15.24 (1.76) respectively. Fifty-one (92.73%) children were having BMI less than 3rd centile (Underweight). Forty (93.02%) and 11 (91.66%) children between age group of 5-10 years and more than 10 years were underweight and was statistically significant (p<0.05). Total 50 (94.33%) children were having mean pre transfusion hemoglobin below 9 gm/dl who were underweight which was statistically significant.Conclusions: Low pre-transfusion hemoglobin is one of the risk factors for growth failure in children with TDTM and it should be maintained above 9 gm/dl may for normal growth in children with TDTM.
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【Objective】 To retrospectively analyze the blood use of transfusion-dependent thalassemia (TDT) patients in 9 designated transfusion medical institutions from 2018 to 2023 in Nanning, and to evaluate the effect of " three designated " blood transfusion mode (hereby means TDT patients undergoing blood transfusion in designated transfusion medical institutions regularly) and " collection-based-supply" blood management mode on blood security of TDT patients. 【Methods】 The " three designated" blood transfusion mode was implemented to ensure that TDT patients registered in the local household registration (referred to as the " register" ) obtain the rights and interests of outpatient transfusion and blood security of designated medical institutions. The " collection-based-supply" blood management mode was implemented to assess the blood needs of "register" TDT patients and meet their needs to the maximum extent according to the blood inventory (collection). 【Results】 From 2018 to 2023, the total blood supply of "register" TDT patients was 10.37% of the total red blood supply of all medical institutions (138 509.5 U /1 335 788.0 U), with the highest proportion of type O blood as 46.34% (64 181.0 U/138 509.5 U) and the lowest proportion of type AB blood as 3.85% (5 331.0 U/138 509.5 U). In 2018, 9 transfusion medical institutions were designated for TDT patients.There were a total of 766 TDT patients in the register, with the per capita annual blood transfusion volume increased from 20.28 U (15 531.0 U/766 patients) in 2018 to 36.01 U (27 586.0 U/766 patients) in 2023, maintaining a positive growth every year(30.26%, 4.94%, 11.71%, 8.61%, 4.94% and 7.10%). 【Conclusion】 The " three designated" blood transfusion mode and the " collection-based-supply " blood management mode can effectively guarantee the blood supply of TDT patients.
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OBJECTIVE@#To compare the efficacy of eltrombopag combined with cyclosporine A (CsA) and CsA alone in patients with transfusion-dependent non-severe aplastic anemia (TD-NSAA).@*METHODS@#The clinical data of 76 patients with treatment-naive TD-NSAA in Ningde Municipal Hospital of Ningde Normal University and Affiliated Hospital of Nantong University from December 2017 to June 2021 were retrospectively analyzed. Among them, 45 cases were treated with eltrombopag combined with CsA, and 31 patients with compatible baseline characters were treated with CsA alone. The efficacy of patients between the two groups was compared, and the factors affecting the curative effects were also analyzed.@*RESULTS@#There were significant differences in hematological response (HR) and complete response(CR) rates between the two groups at 3, 6, 12 months, and follow-up endpoint of treatment (P<0.05). With the prolongation of eltrombopag treatment time, the curative effect increased gradually, and the patients achieved more CR and HR rates by the end of the follow-up period. Simultaneously, with the increase in the maximum stable dose of eltrombopag, the HR rate increased gradually. The megakaryocyte count in eltrombopag group was higher than that in control at 6 and 12 months (P<0.05). Compared with the control group, the median time of platelet transfusion independence in eltrombopag group was more shorter (P=0.018), and the median platelets transfusion volume was lower (P=0.009). At 3, 6, 12 months after eltrombopag, the change of platelet in eltrombopag group was higher than that in the control group (P<0.05). Analysis of related factors affecting the efficacy showed that sex, age, iron overload, platelet count before treatment had no effect on the efficacy, and the median maximum stable dosage and the administration period for eltrombopag were related to the curative effect. The patients of eltrombopag group experienced adverse events of varying degrees, but the reactions were mild and mostly tolerated.@*CONCLUSION@#Eltrombopag can effectively improve the hematopoietic response and promote platelet recovery for TD-NSAA patients with relatively more residual hematopoietic cells, and it is safe and well tolerated.
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Humanos , Anemia Aplástica/terapia , Estudos Retrospectivos , Resultado do Tratamento , Ciclosporina/uso terapêutico , Terapia de Imunossupressão , Imunossupressores/uso terapêuticoRESUMO
The main purpose of our study was to evaluate the efficacy and safety of eltrombopag plus cyclosporine A (CsA) in transfusion-dependent non-severe aplastic anemia(TD-NSAA). The clinical characteristics of 13 TD-NSAA patients who received initial treatment of eltrombopag plus CsA from 2019 to 2021 were retrospectively analyzed. The 3-month overall hematological response (OR) rate was 12/13. Until the end of follow-up, 12 patients responded, among whom 2 patients reached complete response (CR) and 9 patients reached partial response (PR) and 1 with HR. Paroxysmal nocturnal hemoglobinuria (PNH) developed in one patient at 6 months after treatment. Five of thirteen patients reported mild adverse reactions, which were all manageable. Compared with historical data, the combination of eltrombopag with CsA is an effective regimen in patients with TD-NSAA.
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@#Non-transfused β-thalassaemia patients develop complications related to unsuppressed ineffective erythropoiesis (IE). Serum markers of IE would be useful for risk stratification and monitoring treatment. We studied βthalassaemia trait (β-TT) and non-transfusion-dependent βthalassaemia (β-NTDT) patients. Serum erythropoietin (EPO) and soluble transferrin receptor (sTfR) were correlated against markers of clinical severity (haemoglobin, LDH, retics, bilirubin, spleen size) and iron overload (ferritin, hepcidin, and MRI-T2* in NTDT patients). Eleven β-NTDT and nine β-TT subjects were studied. βNTDT patients had significantly higher markers of haemolysis and iron overload. In β-NTDT, liver iron ranged from mild to severe, but no cardiac loading was seen. EPO and sTfR were higher in patients with β-NTDT than β-TT, and correlated significantly with each other (ρ=0.630, p=0.003). Both markers were negatively correlated with haemoglobin (sTfR ρ=-0.540, p=0.014; EPO ρ=-0.807, p<0.001, and positively correlated with spleen size (sTfR ρ=0.783, p<0.001; EPO ρ=0.654, p=0.002) and markers of iron overload. There was a strong correlation between ferritin and hepcidin (ρ=0.720, p<0.001), and a relatively lower increment of hepcidin for the degree of iron overload in βNTDT compared to β-TT. EPO and sTfR appear to be reliable markers of erythropoiesis in non-transfused β-thalassaemia and correlate well with markers of disease severity. Their role in managing patients, predicting complications, and monitoring response to treatments aimed at reducing IE should be explored.
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Non-Transfusion Dependent Thalassemia (NTDT) is a term used to label patients who do not require lifelong transfusions for survival. The common conditions traditionally described as NTDT are beta thalassemia intermedia, haemoglobin H disease and haemoglobin E beta thalassemia. The major problem with NTDT patients remains that, as they do not require regular transfusions, so they often do not seek medical attention until they develop serious complications such as anaemia due to ineffective erythropoiesis, iron overload, hypercoagulability and hormonal imbalances like hypogonadism, hypoparathyroidism, renal dysfunction etc.METHODSOur study was conducted in the Thalassemia Out Patient Department, Institute of Haematology & Transfusion Medicine at Medical College, Kolkata, over a span of 1 year 6 months. It was a cross sectional observational study of 30 patients of Non-Transfusion Dependant Thalassemia (NTDT) selected randomly as per the inclusion criteria. Thorough history taking and clinical examination were performed. Blood samples were tested for haemoglobin levels, RBC indices, fasting glucose, serum calcium, serum phosphate, SGPT, serum creatinine, TSH, FT4, FSH and LH (3 pooled samples at 30-minute-intervals), serum testosterone (in males) and serum ferritin. Ultrasonography and echocardiography were done. The data was analysed by standard statistical methods, using MedCalc (version 3.0) software. The correlation of different complications of NTDT with serum ferritin levels was done using Mann-Whitney U test. An alpha level of 5% has been taken i.e. any p value < 0.05 has been taken as significantRESULTSSerum ferritin levels were found to be quite high in the NTDT patients, with a range of 335.1 (min.) - 1300 (max.) ng/mL, with a mean serum ferritin level of 568.78 ng/mL and SD of 224.9, despite the fact that nearly 87% (26 out of 30) of the patients had received less than 10 transfusions in their lifetime. Our study showed that, delayed puberty, renal dysfunction, liver dysfunction and pulmonary hypertension were found to be significantly related to the serum ferritin levels (serving as a marker of liver iron concentration).CONCLUSIONSThus, we conclude that despite requiring much fewer transfusions than transfusion dependant thalassemia patients, the NTDT patients do develop iron overload as well as different complications, some of which are significantly related to the liver iron overload. Knowledge of such complications could help to initiate chelation therapy at the appropriate time for NTDT patients, thereby reducing morbidity and improving their quality of life.
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@#Blood safety is a major global issue. Transfusion transmitted parasitic infections (TTPI) like malaria are rare and possibly under-reported, a situation which could be attributed to lack of awareness of the mosquito-borne transmission of infection. Such infections are still considered potential health hazards, as they can pose a significant threat especially in immunocompromised patients, where they have proven to be fatal. Prevention of the transmission depends solely on the donor’s questionnaire which addresses previous or current infection with aetiologic agents. Donor deferral is effective however clear guidelines are needed. This case report features the transfusion-transmitted of Plasmodium Falciparum in a 15-year-old splenectomised patient with underlying beta thalassaemia major.
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@#Introduction: Frequent blood transfusions results in iron overload and lead to multiple endocrine complications. In spite of improvements in iron chelation therapy, a significant number of transfusion dependent thalassaemia (TDT) patients still develop endocrine complications. The aim of this study is to evaluate the prevalence of various endocrine complications in our adult TDT patients and to study the correlation with serum ferritin and liver iron concentration (LIC). Methods: A retrospective review of all TDT patients treated in Haematology Unit, Hospital Pulau Pinang (HPP) was conducted. Results: Of the 45 adult TDT patients, 22 were males and 23 were females with mean age of 28.8±6.9 years old. Majority of TDT in HPP were beta thalassemia major (71.1%), followed by E-Beta thalassemia (24.4%) and HbH-Constant Spring (4.4%). Frequency of transfusion was 3-4 weekly. 40.0% of adult TDT suffered from at least one endocrine complication. Among the adult TDT patients with endocrine complication, 50% have one endocrinopathy, 38.9% with two types of endocrinopathies and 11.1% of them have three or more types of endocrinopathies. Hypogonadism (22.2%) was the commonest endocrine complication, followed by osteoporosis (20%), hypothyroidism (13.3%), diabetes mellitus (6.7%) and hypocortisolism (4.4%). Patients with endocrine complications were significantly older. Mean serum ferritin level and LIC was higher among patients with endocrine complications but both were not statistically significant. Conclusion: Endocrinopathy is still prevalent in 40% of adult TDT patients. This leads to higher health-care resource utilization, cost and significant morbidities among patients with TDT. Therefore, regular monitoring and early detection with intensification of chelation therapy is essential.
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INTRODUCTION@#Endocrine dysfunction due to iron overload secondary to frequent blood transfusions is a common complication in children with transfusion-dependent thalassaemia (TDT). We ascertained the prevalence of endocrine dysfunction in children with TDT seen in a hospital setting in Malaysia.@*METHODS@#We reviewed all patients with TDT who had ≥ 8 blood transfusions per year. Patients who had a history of stem cell transplantation, concurrent autoimmune diseases or were newly diagnosed to have TDT were excluded. Standard diagnostic criteria were used in the diagnosis of various endocrine dysfunctions.@*RESULTS@#Of the 82 patients with TDT, 65% had at least one endocrine dysfunction. Short stature was the commonest (40.2%), followed by pubertal disorders (14.6%), hypoparathyroidism (12.3%), vitamin D deficiency (10.1%), hypocortisolism (7.3%), diabetes mellitus (5.2%) and overt hypothyroidism (4.9%). Subclinical hypothyroidism and pre-diabetes mellitus were seen in 13.4% and 8.6% of the patients, respectively. For children aged 10 years of age. Close monitoring for endocrine dysfunction and hormonal therapy is essential to prevent long-term adverse outcomes.
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@#Introduction: Non-transfusion dependent thalassaemia (NTDT) is a term used for thalassaemia patients who do not require lifelong regular transfusions for survival. Pregnancy in these women, whether spontaneous or through assisted reproductive technology, represents a challenge for the physician. Materials and Methods: The maternal and foetal outcomes of patients with NTDT followed up in a tertiary haematology centre over 6 months period were studied. A total of 36 pregnancies in 26 pregnant women with NTDT were analysed. Results: Among these women, all of the pregnancies resulted in successful delivery of singleton live-born neonates. There were four clinically distinct forms of NTDT among these women which include Hb E/β-thalassemia (mild and moderate forms), HbH disease, HbH-Constant Spring, and homozygous δβ-thalassemia. No blood transfusion was needed in 15 of the 36 pregnancies (41.6%). The lowest mean Hb level in which no blood transfusion was given was 8.21 g/dL. The mean of packed-cell units received during pregnancy was 6.95 units per pregnancy. There was no worsening of serum ferritin observed during pregnancy with mean serum ferritin pre- and post-pregnancy of 409.35 ug/L and 418.18 ug/L respectively. The mean gestational age at delivery was 38.6 weeks with no preterm delivery reported. The mean foetal birth weight was 2729 grams. There was no intrauterine growth restriction (IUGR) or congenital malformation. There was a case of small for gestational age (SGA) and a case of oligohydramnios. Conclusion: This study showed that pregnancy was possible, safe and has a favourable outcome in patients with NTDT with multidisciplinary care.
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Acquired aplastic anemia (AA) is a rare heterogeneous disease characterized by pancytopenia and hypoplastic bone marrow.The differential diagnosis should always take in account inherited forms of AA,like Fanconi anemia(FA),dyskeratosis-congenita(DC),and Shwachman-Diamond syndrome (SDS).Patient with transfusion-dependent non-severe aplastic anemia(NSAA),with severe AA (SAA) and very severe AA(VSAA),if an human leukocyte antigen (HLA) matched family donor(MFD) is found,then hematopoietic stem cell transplantation (HSCT) using bone marrow (BM) stem cells is the treatment of choice.If a MFD is not available,the immunosuppressive therapy (IST) with the combination of antithymocyte globulin (ATG) plus cyclosporin (CsA) still represents the first line choice.For transfusion-independent NSAA patients,most hematologists suggests no intervention,however,some studies indicate the patients with transfusion-independent NSAA may benefit from IST,and the rate of progression to SAA and transfusion-dependent NSAA is lower than other observation groups.So a multicenter randomized clinical trial is needed.
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The prevalence of sickle cell disease (SCD) is high in the southwest region of Saudi Arabia. Liver involvement in patients with SCD represents a challenging medical problem in clinical practice and carrying a high morbidity and mortality rates. We reported two cases of young patients (19 year male and 22 year female), both of them were known to be non-blood transfusion SCD patients. They have had almost the same clinical presentation with advanced decompensated liver cirrhosis and severe progressive jaundice. Early screening of SCD patients for iron overload, beside commencement of iron chelating agents can prevent the long-term sequel of iron overload.