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Thalassemia Major (thalassemia + major)
Terms modified by Thalassemia Major Selected AbstractsLived Experiences of Mothers Caring for Children With Thalassemia Major in ThailandJOURNAL FOR SPECIALISTS IN PEDIATRIC NURSING, Issue 1 2007Suksiri Prasomsuk ISSUES AND PURPOSE.,Thalassemic patients must be given continuous treatment throughout their lives due to the physical and psychological effects of their disorder; their families also are impacted. This qualitative study explored the lived experiences of 15 mothers of children with thalassemia major by conducting semistructured interviews; the data were analyzed utilizing content analysis. CONCLUSION.,Six themes were identified: lack of knowledge about thalassemia, psychosocial problems, concerns for the future, social support systems, financial difficulty, and the effectiveness of healthcare services. PRACTICE IMPLICATIONS.,These findings suggest that a holistic, culturally sensitive nursing approach should be considered when caring for children with thalassemia. [source] Evaluation of the genetic basis of phenotypic heterogeneity in north Indian patients with Thalassemia majorEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 6 2010Nidhi Sharma Abstract Objectives: To assess the molecular basis of phenotypic heterogeneity in north Indian patients with thalassemia major (TM). Methods: To determine the clinical severity, 130 patients of TM were studied for the age of first presentation and frequency of blood transfusion. The type of beta mutations, Xmn,1G, polymorphism and G6PD Mediterranean mutation was characterized. Analysis of the phenotypic presentation and the genotype was performed. Results: Majority (83.8%) presented before 1 year of age (mean 8.8 months). The caste distribution showed 41.6% were Aroras and 32.3% were migrants from Pakistan. IVS1-5(G,C) was commonest (32.7%) and the common five Indian mutations comprised of 88.4% of alleles. The mean age of presentation with IVS1-5(G,C), Fr 8/9, (+G) 619-bp del and IVS1-1(G,T) homozygosity was 4.3, 6, 3.4 and 9.1 months respectively. Xmn,1G, status showed ,/, in 66.9%, +/, in 26.1% and +/+ in 6.9% patients. Xmn,1G,,/, presented before 1 year of age. The mean age of presentation with +/+ was 18.3 months. Six hemizygous boys and one heterozygous girl with G6PD Mediterranean were found (prevalence 5.3%). Eight patients could be reclassified as thalassemia intermedia on follow up. Conclusions: This study showed that majority of TM in north India present before 1 year of age and homozygous 619-bp deletion presents the earliest. The presence of Xmn-1G, polymorphism delays the presentation, is associated with the IVS 1-1 (G,T) and shows variable improvement with hydroxyurea therapy. Based on the results of genotyping, reevaluation of patients can improve the outcome in a few patients. [source] Increased QT variability in young asymptomatic patients with ,-thalassemia majorEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 4 2007Damiano Magrě Abstract Background:, Despite recent progress in iron chelation therapy, sudden cardiac death due to malignant ventricular arrhythmias remains a vexing, clinical problem in patients with ,-thalassemia major (TM). In this study we assessed whether the major indices of QT variability, emerging tools for risk stratification of sudden cardiac death, differ in young asymptomatic patients with TM and healthy persons. Methods: Thirty patients with TM and 30 healthy control subjects underwent a 5-min electrocardiography recording to calculate the following variables: QT variance (QTv), QTv normalized for mean QT (QTVN) and QT variability index (QTVI). All subjects also underwent a two-dimensional and Doppler echocardiography study and magnetic resonance imaging (MRI) to determine cardiac and hepatic T2* values. Results: No differences were observed in clinical and conventional echo-Doppler findings in healthy control subjects and patients with TM whereas QTv, QTVN and QTVI values were significantly higher in patients than those in controls (QTv, P < 0.001; QTVN, P < 0.05 and QTVI, P < 0.001) and cardiac T2* and hepatic MRI T2* values were significantly lower in patients with TM (P < 0.001). The indices of temporal QT variability correlated significantly with MRI data. Conclusions: Young asymptomatic patients with TM have increased cardiac repolarization variability as assessed by QT variability indices, probably due to cardiac iron deposition. These easily assessed, non-invasive markers could be used to identify increased myocardial repolarization lability early in asymptomatic patients with TM. [source] Rupture of chordae tendineae in patients with ,-thalassemiaEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 4 2004Dimitrios Farmakis Abstract: Cardiac disease is the primary cause of mortality in , -thalassemia patients. Except for ventricular dysfunction and pulmonary hypertension that represent the main forms of heart disease in these patients, valvular abnormalities including valvular regurgitation, endocardial thickening and calcification and mitral valve prolapse have also been described. Here we present two patients with thalassemia major and mitral chordal rupture, a previously undescribed abnormality in this population. Pathogenesis of this finding may involve thalassemia-related pseudoxanthoma elasticum-like syndrome, a diffuse elastic tissue defect, which is observed with a notable frequency in these patients and has been associated with numerous cardiovascular complications, including valvular ones. [source] Reversal of cardiac complications in thalassemia major by long-term intermittent daily intensive iron chelationEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 6 2003H. Miskin Abstract: Objectives: In patients with thalassemia major (TM) who are non-compliant with long-term deferoxamine (DFO) chelation, survival is limited mainly because of cardiac complications of transfusional siderosis. It was recently shown in a small group of TM patients with established cardiac damage that continuous 24-h DFO infusion via an indwelling intravenous (i.v.) catheter is effective in reversing cardiac toxicity. The aim of the present study was to evaluate the results with intermittent daily (8,10 h) i.v. DFO. Patients: Eight TM patients with cardiac complications treated with intensive intermittent DFO were retrospectively evaluated by the mean annual serum ferritin, radionucleated ventriculography and 24-h electrocardiography recordings. Results: The median age at diagnosis of cardiac disease was 17.5 yr (range 14,21), and the median follow-up time was 84 months (range, 36,120). In the majority of patients (seven of eight) high-dose DFO (mean 95 ± 18.3 mg/kg/d) was administered via a central venous line. During follow-up, there was a significant decrease in the mean ferritin levels (5828 ± 2016 ng/mL to 1585 ± 1849 ng/mL, P < 0.001). Both cardiac failure (mean ejection fraction 32 ± 5) and cardiac arrhythmias were resolved in four of five patients. One non-compliant patient died during the follow-up. Following discontinuation of the i.v. therapy, compliance with conventional DFO therapy improved. The complications of this regimen, mainly catheter-related infections and catheter-related thrombosis, were similar to those described earlier. Conclusions: These results with the longest follow-up period in the literature suggest that i.v. high-dose DFO for 8,10 h daily may be as effective as continuous 24-h infusion for the reversal of established cardiac disease in TM. [source] Distribution and frequency of , -thalassemia mutations in northwestern and central GreeceEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 2 2003I. Georgiou Abstract: Objectives : , -Thalassemia is a common autosomal recessive disorder resulting from over 200 different mutations of the , -globin genes. The spectrum of , -thalassemia mutations in Greece has been previously described in the population of the capital city of Athens, or in , -thalassemia patients having transfusion therapy. The aim of the present study was to identify the distribution of the most common , -thalassemia mutations in the population of northwestern and central Greece. Methods : The data for this study were derived from a total of 1130 unrelated subjects including 46 , -thalassemia major, three , -thalassemia intermedia and 1081 carriers identified in our antenatal screening program. , -Thalassemia mutations were identified by ARMS, DGGE and Reverse Dot Blot. Results : The most common mutation, IVS-I-110, is followed, in order of frequency, by the mutations Cd-39, IVS-I-1, IVS-II-1, Cd-6, IVS-I-6, IVS-I-5, IVS-II-745, Cd-5 and 44 bp del. IVS-I-110 and Cd-39 frequencies are similar with those found in other Balkan countries. Significant differences in regional distribution were observed. The results showed a clear drift of the distribution of the most frequent IVS-I-110 mutation in the south,north (29.4, 40.0, 44.6 and 61.7%) and the east,west axis (31.8 and 44.6%). Conclusions : Population screening and prenatal diagnosis are significantly facilitated by these data. Furthermore, the detailed distribution tables of , -thalassemia mutations are essential for counseling and extraction of genetic diversity estimates for population genetic studies in other inherited disorders. [source] Combined therapy of silymarin and desferrioxamine in patients with ,-thalassemia major: a randomized double-blind clinical trialFUNDAMENTAL & CLINICAL PHARMACOLOGY, Issue 3 2009Marjan Gharagozloo Abstract Silymarin, a flavonolignan complex isolated from Silybum marianum, has a strong antioxidant, hepatoprotective, and iron chelating activities. The present study was designed to investigate the therapeutic activity of orally administered silymarin in patients with thalassemia major under conventional iron chelation therapy. A 3-month randomized, double-blind, clinical trial was conducted in 59 ,-thalassemia major patients in two well-matched groups. Patients were randomized to receive a silymarin tablet (140 mg) three times a day plus conventional desferrioxamine therapy. The second group received the same therapy but a placebo tablet instead of silymarin. Clinical laboratory tests were assessed at the beginning and the end of the trial, except for serum ferritin level that was assessed at the middle of the trial as well. Results of this study revealed that the combined therapy was well tolerated and more effective than desferrioxamine in reducing serum ferritin level. Significant improvement in liver alkaline phosphatase and glutathione levels of red blood cells was also observed in silymarin-treated ,-thalassemia patients. However, no significant difference in serum ferritin levels was detected between silymarin and placebo groups after 1.5 and 3 months treatment, probably because of insufficient sample size to detect subtle changes in ferritin levels between groups. This is the first report showing the beneficial effects of silymarin in thalassemia patients and suggests that silymarin in combination with desferrioxamine can be safely and effectively used in the treatment of iron-loaded patients. [source] LETTER TO THE EDITOR: A novel homozygous point mutation at codon 82 (HBB:c.247A > T) in the beta-globin gene leads to thalassemia majorINTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 5 2010R. Angalena No abstract is available for this article. [source] Hematological features and molecular lesions of hemoglobin gene disorders in Taiwanese patientsINTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 1p2 2010H.-J. LIN Summary Hemoglobin (Hb) gene disorders are one of the most common inherited diseases in Taiwan, which include ,-thalassemia, ,-thalassemia, and Hb variants. In this study, we collected and analyzed mutations found in 930 patients with Hb gene disorders except Hb Bart's Hydrops and ,-thalassemia major. The patients included 650 cases of ,-thalassemia, 225 cases of ,-thalassemia, 9 cases of ,-thalassemia combined with ,-thalassemia, and 46 cases of Hb variants or Hb variants combined with ,-thalassemia or ,-thalassemia. The most common type of ,0 -thalassemia and ,++ -thalassemia mutations in our study were the SEA type deletion and the ,3.7 deletion, respectively; the most common ,-thalassemia mutation was the IVS-2 nt 654 C,T mutation; and the most common Hb variant was the HbE. We compared the relationships between genotype and hematological phenotypes of various Hb gene disorders and found that different genotypes of ,0 -thalassemia have similar hematological features. In conclusion, the results of our study provide data of the complex interaction of thalassemias and Hb variants which might be useful for other researchers in this field. [source] Antiphospholipid antibodies and hepatitis C virus infection in Iranian thalassemia major patientsINTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 1 2008S. KASHEF Summary Although the precise nature of Antiphospholipid antibodies is still not clearly defined, they are known to have association with thromboembolic events and have been found in hepatitis C virus (HCV) infection. Moreover, high prevalence of HCV infection and thrombotic risk is described in thalassemia. We aimed at investigating the prevalence of anticardiolipin antibodies (aCLAbs), lupus anticoagulant (LA), and their relation with HCV infection in Iranian thalassemic patients. Presence of anti-HCV antibody, serum HCV-RNA, aCLAbs, and LA activity was determined in 131 patients with thalassemia major (male/female: 63/68 aged 3,29 years) registered at thalassemia unit, Dastgheib Hospital, Shiraz, Iran. Sixty-one healthy controls were also included. Anti-HCV antibody was positive in 24 (18.3%), IgG aCLAbs in 56 (42.7%), and LA activity in 9 (6.9%) patients. 87.5% of patients positive for aCLAbs had a low titer of aCLAbs. Although none of the participants had a previous history of thrombosis, higher prevalence of aCLAbs was detected in thalassemic patients compared with controls. No significant difference in the prevalence of aCLAbs was found between HCV-infected and noninfected patients. A high prevalence of aCLAbs, the majority in low titers, was detected in Iranian thalassemic patients irrespective of previous history of thrombosis and presence of HCV infection. [source] Thalassemia: macroscopic and radiological study of a caseINTERNATIONAL JOURNAL OF OSTEOARCHAEOLOGY, Issue 3 2007A. Lagia Abstract Differentiation of the genetic and the acquired anaemias, particularly in areas of the world where they may co-exist, has been a challenge for palaeopathologists for over 100 years. In this paper we present macroscopic and radiographic skeletal lesions that are associated with the thalassemias in a 14-year-old girl from a modern reference collection of the University of Athens. This individual is of known sex, age, cause of death, place and dates of birth and death. The case is examined in terms of epidemiology, growth, distribution and severity of lesions and differential diagnosis. The entire skeleton is affected by marrow hyperplasia: lesions of the axial skeleton are extreme, and the appendicular skeleton is severely affected as well. The odontofacial manifestations that are diagnostic of thalassemia and differentiate it from other anaemias are present and include: maxillary and mandibular hyperplasia, reduced sinuses, displacement of maxillary dental structures, overbite, and generalised osteopenia. The development of extreme bone lesions and the ,advanced' age-at-death of this individual is explained as either the result of thalassemia major under a low transfusion regimen that was the norm during her lifetime, or to a form of thalassemia intermedia that allows survival to later life at the expense of gross skeletal alterations. The present status of skeletal studies in Greece does not support the identification of a genetic anaemia in past populations. The potential contribution of the current analysis in differentiating the anaemias in antiquity is evaluated. Copyright © 2006 John Wiley & Sons, Ltd. [source] Lived Experiences of Mothers Caring for Children With Thalassemia Major in ThailandJOURNAL FOR SPECIALISTS IN PEDIATRIC NURSING, Issue 1 2007Suksiri Prasomsuk ISSUES AND PURPOSE.,Thalassemic patients must be given continuous treatment throughout their lives due to the physical and psychological effects of their disorder; their families also are impacted. This qualitative study explored the lived experiences of 15 mothers of children with thalassemia major by conducting semistructured interviews; the data were analyzed utilizing content analysis. CONCLUSION.,Six themes were identified: lack of knowledge about thalassemia, psychosocial problems, concerns for the future, social support systems, financial difficulty, and the effectiveness of healthcare services. PRACTICE IMPLICATIONS.,These findings suggest that a holistic, culturally sensitive nursing approach should be considered when caring for children with thalassemia. [source] Treatment of acute hepatitis C in a child with thalassemia major using weight-based peginterferon ,-2bJOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, Issue 7 2006Ala I Sharara [source] Preferential patterns of myocardial iron overload by multislice multiecho T*2 CMR in thalassemia major patientsMAGNETIC RESONANCE IN MEDICINE, Issue 1 2010Antonella Meloni Abstract T*2 multislice multiecho cardiac MR allows quantification of the segmental distribution of myocardial iron overload. This study aimed to determine if there were preferential patterns of myocardial iron overload in thalassemia major. Five hundred twenty-three thalassemia major patients underwent cardiac MR. Three short-axis views of the left ventricle were acquired and analyzed using a 16-segment standardized model. The T*2 value on each segment was calculated, as well as the global value. Four main circumferential regions (anterior, septal, inferior, and lateral) were defined. Significant segmental variability was found in the 229 patients with significant myocardial iron overload (global T*2 <26 ms), subsequently divided into two groups: severe (global T*2 <10 ms) and mild to moderate (global T*2 between 10 and 26 ms) myocardial iron overload. A preferential pattern of iron store in anterior and inferior regions was detected in both groups. This pattern was preserved among the slices. The pattern could not be explained by additive susceptibility artifacts, negligible in heavily iron-loaded patients. A significantly higher T*2 value in the basal slice was found in patients with severe iron overload. In conclusion, a segmental T*2 cardiac MR approach could identify early iron deposit, useful for tailoring chelation therapy and preventing myocardial dysfunction in the clinical setting. Magn Reson Med, 2010. © 2010 Wiley-Liss, Inc. [source] Renal tubular function in children with ,-thalassemia minorNEPHROLOGY, Issue 5 2005SÜLEYMAN KALMAN SUMMARY: Background: , -thalassemia minor is a common heterozygous haemoglobinopathy that is characterized by both microcytosis and hypochromia. It requires no treatment. It has been postulated that low-grade haemolysis, tubular iron deposition and toxins derived from erythrocytes might cause renal tubular damage in adult patients with , -thalassemia minor. Our aim was to investigate the renal tubular functions in children with ,-thalassemia minor and to determine its possible harmful effects. Methods: The study was conducted on 32 children (14 female and 18 male) at the age of 5.8 ± 3.1 years (range 2,14 years) with , -thalassemia minor. The patients were classified as anaemic (haemoglobin (Hb) , 11 g/dL) (Group 1, n = 14) and non-anaemic (Hb > 11 g/dL) (Group 2, n = 18). A control group was formed with 18 healthy children whose ages and sexes match those in other groups (Group 3, n = 18). Fractional excretion of sodium (FENa, %), fractional excretion of magnesium (FEMg, %), fractional excretion of uric acid (FEUA, %) and tubular phosphorus reabsorption (TPR,%) were calculated with standard formulas. Urinary calcium excretion (mg/kg per 24 h), zinc (Zn) (µg/dL), glucosuria (mg/dL), , -2 microglobulin (mg/dL) and N -acetyl- ,,D-glycosaminidase (NAG, U/mmol creatinine) levels were measured through biochemical methods. Results: There was no statistically significant difference among the three groups in terms of the results of FENa (%), FEMg (%), FEUA (%), TPR (%), calciuria (mg/kg per 24 h), NAG, urine Zn, proteinuria, glucosuria or urine , - 2 microglobulin levels (P > 0.05). Conclusion: On the contrary of children with , -thalassemia major, renal tubular dysfunction has not been determined in children with , -thalassemia minor in the present study. [source] Transient elastography in the assessment of liver fibrosis in adult thalassemia patients,AMERICAN JOURNAL OF HEMATOLOGY, Issue 8 2010Mirella Fraquelli Transient elastography (TE) is a valuable noninvasive technique of measuring liver stiffness and a reliable tool for predicting hepatic fibrosis in patients with chronic liver disease. The role of TE in patients with ,-thalassemia has not been extensively investigated. The present study aimed to evaluate the role of TE in the assessment of hepatic fibrosis in 115 adult patients with ,-thalassemia major (TM) (#59) or intermedia (TI) (#56). TE was performed according to current practice. Histologic data were obtained in 14 cases. Liver iron concentration was assessed by atomic absorption spectrometry and T2* magnetic resonance. In patients with TM, the proportion of anti-HCV positive viremic patients, median serum ferritin levels, and TE values were significantly higher than in TI. In the group of 14 patients who underwent liver biopsy, a significant positive correlation was observed between liver stiffness and fibrosis stage (r = 0.73, P = 0.003). Severe fibrosis is diagnosed with a sensitivity of 60% and a specificity of 89%, whereas cirrhosis is detected with a sensitivity of 100% and a specificity of 92%. At multivariate analysis, the variables independently associated with TE were ALT, GGT, and bilirubin levels in both groups and, in patients with TM, HCV RNA positivity. In ,-thalassemia patients, TE is a reliable tool for assessing liver fibrosis even if the influence of iron overload has to be clarified. Am. J. Hematol. 85:564,568, 2010. © 2010 Wiley-Liss, Inc. [source] ,-Thalassemia major births after National Screening Program in TaiwanPEDIATRIC BLOOD & CANCER, Issue 1 2008Jimmy P.S. Chern MD Abstract Objective A National Thalassemia Screening Program was adopted in Taiwan in 1993. This report examined that program's results and impact. Methods Patients with ,-thalassemia major born between 1994 and 2003 were recruited through the help of all thalassemia clinics in Taiwan. A structured questionnaire was designed to collect the reasons for affected births. Results There were 97 affected births from 1994 to 2003. These births resulted after informed choice (n,=,4), screening problems (n,=,83), and undetermined causes (n,=,10). Approximately 83% (5/6) of affected births in 2003 came from interracial marriages. Conclusions This report has identified several areas that might improve the thalassemia-screening program, including carrier screening in high school rather than in early pregnancy and the involvement of genetic counselors, providing care of new female immigrants. Pediatr Blood Cancer 2008;50:58,61. © 2007 Wiley-Liss, Inc. [source] Urinary hepcidin in congenital chronic anemiasPEDIATRIC BLOOD & CANCER, Issue 1 2007Susan L. Kearney MD Abstract Background Hepcidin, a regulator for iron homeostasis, is induced by inflammation and iron burden and suppressed by anemia and hypoxia. This study was conducted to determine the hepcidin levels in patients with congenital chronic anemias. Procedure Forty-nine subjects with anemia, varying degrees of erythropoiesis and iron burden were recruited. Eight children with immune thrombocytopenia were included as approximate age-matched controls. Routine hematologic labs and urinary hepcidin (uhepcidin) levels were assessed. For thalassemia major (TM) patients, uhepcidin was obtained pre- and post-transfusion. Results In TM, uhepcidin levels increased significantly after transfusion, demonstrated wide variance, and the median did not significantly differ from controls or thalassemia intermedia (TI). In both thalassemia syndromes, the hepcidin to ferritin ratio, a marker of the appropriateness of hepcidin expression relative to the degree of iron burden, was low compared to controls. In TI and sickle cell anemia (SCA), median uhepcidin was low compared to controls, P,=,0.013 and <0.001, respectively. In thalassemia subjects, uhepcidin levels were positively associated with ferritin. In subjects with SCA, uhepcidin demonstrated a negative correlation with reticulocyte count. Conclusions This study examines hepcidin levels in congenital anemias. In SCA, hepcidin was suppressed and inversely associated with erythropoietic drive. In thalassemic syndromes, hepcidin was suppressed relative to the degree of iron burden. Transfusion led to increased uhepcidin. In thalassemia, the relative influence of known hepcidin modifiers was more difficult to assess. In thalassemic syndromes where iron overload and anemia have opposing effects, the increased erythropoietic drive may positively influence hepcidin production. Pediatr Blood Cancer 2007;48:57,63. © 2005 Wiley-Liss, Inc. [source] Patterns of hepatic iron distribution in patients with chronically transfused thalassemia and sickle cell disease,AMERICAN JOURNAL OF HEMATOLOGY, Issue 8 2009Nilesh R. Ghugre Patients with sickle cell disease (SCD) appear to be at lower risk of endocrinopathies and cardiac dysfunction than those with thalassemia major (TM). Circulating redox active iron is lower in these patients, possibly due to increased systemic inflammation and circulating cytokines. Hepcidin synthesis is upregulated during chronic inflammation, reducing intestinal iron absorption and promoting retention of iron in the reticuloendothelial cells. Hence, we hypothesized that livers of patients with SCD would exhibit greater iron deposition in sinusoidal spaces relative to hepatocytes and less in portal tracts when compared to patients with TM. To test this hypothesis, iron scoring analysis was performed on 70 clinically indicated liver biopsy specimens from children and young adults with the two syndromes. Sinusoidal scores were lower in around 1 of 4 patients with TM but the relative iron loading in hepatocytes, and portal tracts was identical in both diseases. Sinusoidal iron burdens saturated at low hepatic iron concentration (HIC) while hepatocyte and portal iron depots increased proportionally to HIC. Liver fibrosis was increased in patients with TM regardless of their chronic hepatitis status. Overall, liver iron distribution was relatively insensitive to differences in disease type and to the presence or absence of hepatitis. Am. J. Hematol., 2009. © 2009 Wiley-Liss, Inc. [source] Nutritional deficiencies in iron overloaded patients with hemoglobinopathies,AMERICAN JOURNAL OF HEMATOLOGY, Issue 6 2009Susan Claster One of the hallmarks of both sickle cell disease (SCD) and thalassemia major (TM) is accelerated oxidative damage. Decreased antioxidant levels and increased oxidant stress biomarkers are found in both diseases. Although isolated vitamin deficiencies have been reported in TM and nontransfused SCD patients, a comprehensive evaluation of vitamin and trace mineral levels has never been performed in chronically transfused SCD or TM patients. As vitamins and trace minerals may be consumed as a result of chronic oxidative stress; we hypothesized that levels of these compounds would correlate with surrogates of iron overload, hemolysis, and inflammation in chronically transfused patients. Using a convenience sample of our group of chronically transfused patients we studied 43 patients with SCD (17 male, 26 female) and 24 patients with TM (13 male and 11 female). The age range for our patients varied from 1.5 to 31.4 years. Levels of vitamins A, thiamin, B6, B12, C, D, E as well as selenium, zinc, copper, and ceruloplasmin were measured. We found that 40,75% of the patients were deficient in A, C, D and selenium and 28,38% of the patients had low levels of B vitamins and folate. There was little association with iron overload, hemolysis, or inflammation. Although the precise mechanism of these deficiencies is unclear, they may contribute to the morbidity of chronically transfused hemoglobinopathy patients. Am. J. Hematol., 2009. © 2009 Wiley-Liss, Inc. [source] Sustained and full fetal hemoglobin production after failure of bone marrow transplant in a patient homozygous for beta 0-thalassemia: A clinical remission despite genetic disease and transplant rejection,AMERICAN JOURNAL OF HEMATOLOGY, Issue 6 2009Katia Paciaroni An adult patient affected by ,0 -thalassemia major underwent allogeneic bone marrow transplant (BMT) from a matched related donor. Forty days after transplant, allogeneic engraftment failure and autologous ,0 -thalassemic bone marrow recovery were documented. Red blood cell transfusions were required until 118 days post-transplant. Thereafter, the haemoglobin (Hb) levels stabilized over 11.8 gr/dl throughout the ongoing 34-month follow-up, abolishing the need for transfusion support. The Hb electrophoresis showed 100% Hb Fetal (HbF). This unexplained case suggests full HbF production may occur in an adult patient with ,0 -thalassemia major. Am. J. Hematol. 2009. © 2009 Wiley-Liss, Inc. [source] Hepatitis B immunoglobulin in combination with lamivudine for prevention of hepatitis B virus reactivation in children undergoing bone marrow transplantationPEDIATRIC TRANSPLANTATION, Issue 8 2006Betul Tavil Abstract:, There is little information in literature about the use of hepatitis B immunoglobulin (HBIg) in recipients of bone marrow transplantation (BMT). Here, we report two children who received IV HBIg (Hepatect-CP) and lamivudine treatment during BMT course for either patient or donor hepatitis B virus (HBV) viremia. A four-year-old girl underwent a fully human leukocyte antigen-matched allogeneic BMT for thalassemia major from her mother positive for hepatitis B surface antigen (HBsAg). A 12-yr-old boy with chronic myeloid leukemia, positive for HBsAg and HBV-DNA received a fully HLA-matched allogeneic BMT from his sister in the first chronic phase of the disease. HBIg was successfully used in both cases to prevent HBV reactivation of the recipients. The results of our observations are encouraging and we suggest that HBIg in combination with lamivudine may be used in such cases especially in post-transplant early period to prevent HBV reactivation. [source] Relationship between SP1 polymorphism and osteoporosis in ,-thalassemia major patientsPEDIATRICS INTERNATIONAL, Issue 4 2008Ozlem Guzeloglu-Kayisli Abstract Background: ,-Thalassemia is an autosomal recessive disease characterized by defective ,-globin chain production. Osteoporosis is an important cause of morbidity in patients with ,-thalassemia major. The pathogenesis of reduced bone mineral density (BMD) is multifactorial. A range of genetics factors have been implicated in other populations of patients with osteoporosis. Polymorphism at the Sp1 binding site of the collagen type I A1 (COLIA1) gene is thought to be an important factor in the development of osteoporosis. Methods: Alleles S and s, detected by presence of a G or T nucleotide, respectively in a regulatory site of the COLIA1 gene were investigated in 37 ,-thalassemia major patients with osteoporosis and 92 controls without osteoporosis or osteopenia using polymerase chain reaction,restriction fragment length polymorphism. Results: Fifteen and nine ,-thalassemia major patients displayed SS and Ss genotypes, respectively, whereas 13 were found to have an ss genotype. The mean BMD of the ,-thalassemia major patients with ss genotype was similar to those with the Ss and SS genotypes. In the control group, 77 and 15 subjects had SS and Ss genotypes, respectively, with no ss genotype. Allelic and genotypic distribution in patients were significantly different from controls. Conclusion: Determining base substitutions at the Sp1 binding site on the COLIA1 gene in early years may be important in preventing osteoporosis in children with ,-thalassemia major. [source] High nontransferrin bound iron levels and heart disease in thalassemia major,,AMERICAN JOURNAL OF HEMATOLOGY, Issue 1 2009Antonio Piga Although the presence of nontransferrin bound plasma iron (NTBI) in transfusional iron overload is well documented, knowledge about its clinical significance is limited. We assessed NTBI levels in a large and homogeneous series of thalassemia patients on regular transfusion and chelation and explored the hypothesis that NTBI levels may be associated with relevant clinical outcomes: in particular, heart disease. Among 174 patients with thalassemia major and intermedia, we showed the presence NTBI in 145 of 174 or 83.3% of cases. NTBI levels correlated with transferrin saturation, age, and ALT, and not with serum ferritin or liver iron concentrations. At a multiple regression analysis, transferrin saturation and heart disease but not age was independent predictors of NTBI. Patients with heart disease had NTBI levels significantly higher than those without. All patients with heart disease had transferrin saturation above 70%, and all were NTBI positive. Conversely, none of the patients without NTBI and/or with transferrin saturation less than 70% had preclinical or clinical heart disease. To our knowledge, this is the first documentation of a link between the presence of NTBI in thalassemic patients with transfusional iron overload and heart disease. Further investigation from these preliminary findings may clarify whether NTBI assessment may have a role in evaluating the risks and optimizing treatment for transfusion-dependent patients. Am. J. Hematol., 2009. © 2008 Wiley-Liss, Inc. [source] Increased ,-globin gene expression in ,-thalassemia intermedia patients correlates with a mutation in 3,HS1AMERICAN JOURNAL OF HEMATOLOGY, Issue 11 2007Adamantia Papachatzopoulou We report a novel set of genetic markers in the DNaseI hypersensitive sites comprising the human ,-globin locus chromatin hub (CH), namely HS-111 and 3,HS1. The HS-111 (,21 G>A) and 3,HS1 (+179 C>T) transitions form CH haplotypes, which occur at different frequencies in ,-thalassemia intermedia and major patients and normal (nonthalassemic) individuals. We also show that the 3,HS1 (+179 C>T) variation results in a GATA-1 binding site and correlates with increased fetal hemoglobin production in ,-thalassemia intermedia patients. In contrast, the HS-111 (+126 G>A) transition, found in three normal chromosomes, is simply a rare polymorphism. We conclude that the CH haplotypes are useful genetic determinants for ,-thalassemia major and intermedia patients, while the 3,HS1 (+179 C>T) mutation may have functional consequences in ,-globin genes expression. Am. J. Hematol., 2007. © 2007 Wiley-Liss, Inc. [source] Pulmonary hypertension and ,-thalassemia major: Report of a case, its treatment, and a review of the literatureAMERICAN JOURNAL OF HEMATOLOGY, Issue 6 2006Denise H. Tam Abstract Pulmonary hypertension is a common complication of ,-thalassemia major. We report a case of successful treatment of pulmonary hypertension in a patient with ,-thalassemia major and review the literature on pulmonary hypertension and ,-thalassemia major. A 28-year-old man with ,-thalassemia major, splenectomy, hepatitis C, and hemosiderosis who presented with increasing dyspnea on exertion was diagnosed with pulmonary hypertension. After receiving continuous epoprostenol infusion and desferoxamine, his functional capacity and hemodynamic status improved. To our knowledge, this is the first case of pulmonary hypertension associated with ,-thalassemia treated with continuous epoprostenol infusion and desferoxamine. Epoprostenol, beneficial in the treatment of other types of pulmonary hypertension, may ameliorate the morbidity and mortality of pulmonary hypertension associated with thalassemia. Am. J. Hematol. 81:443,447, 2006. © 2006 Wiley-Liss, Inc. [source] Non-Hodgkin disease in ,-thalassemia majorAMERICAN JOURNAL OF HEMATOLOGY, Issue 1 2006Zaher K. Otrock Abstract Thalassemia is a spectrum of diseases characterized by the decrease or absence of globin chains. The occurrence of lymphoma in thalassemia has rarely been reported, and our review of the English literature revealed only four cases. Because anemia is always masked by regular transfusions in thalassemic patients, physicians discover a hidden malignancy late in the course of the disease. We hereby report the case of a thalassemic patient developing non-Hodgkin disease and discuss the possibility of a link between the two disease entities. This case is intended to alert physicians of the possibility of a malignancy in thalassemia patients. Am. J. Hematol. 81:62,64, 2006. © 2005 Wiley-Liss, Inc. [source] | ||||||||||