Relation between serum ferritin and liver and heart MRI T2 in beta thalassaemia major patients

There is a need for higly accurate non-invasive methods for assessing organ iron content in thalassaemia patients. This study evaluated the relation between serum ferritin level, liver enzyme levels and hepatitis C antibody and liver and heart iron deposition assessed by MRI T2 Data were obtained from the medical records of 156 thalassemia major patients in Tehran. There was a moderate negative correlation between serum ferritin and liver MRI T2 relaxation time [r= -0.535] and a weak negative correlation between serum ferritin and heart MRI T2 relaxation time [r= -0.361]. Hepatitis C infection and liver enzyme levels did not confound or modify the relation between ferritin and liver or heart MRI T2. Liver and heart MRI T2* readings were poorly correlated [r= 0. 281]. Routine evaluation of liver and heart iron content using MRI T2 is suggested to better evaluate the haemosiderosis status in thalassemia patients

Interleukins 12 and 13 levels among beta-thalassaemia major patients

The role of inflammatory cytokines in the pathophysiology of beta-thalassaemia is still unclear. In this study production levels of interleukins [IL]-12 and IL-13 were measured by commercial ELISA in cultureI supernatants of mitogen-stimulated peripheral blood mononuclear cells from 30 non-splenectomized beta-thalassaemia cases with iron overload and 20 age- and sex-matched healthy individuals. IL-12 levels were significantly lower among cases compared with controls [91.4 pg/mL versus 154.6 pg/mL] while IL-13 levels were significantly higher [42.5 pg/mLversus 5.7 pg/mL]. There was a significant negative correlation between IL-12 and IL-13 levels among beta-thalassaemia cases [r= -0.42]. Patients with beta-thalassaemia alone had higher IL-12 levels than beta-thalassaemia patients who were seropositive for chronic hepatitis B or C virus Infection [140 pg/mL versus 50 pg/mL]; IL-13 levels were slightly lower [65 pg/mL versus 67 pg/mL]. An imbalance In the IL-12/IL-13 axis may be relevant to the pathophysiology of beta-thalassaemia

Quantitative estimation of interferon-gamma levels among Egyptian polytransfused haematology cases

This study was designed to estimate interferon-gamma [INF-gamma] levels among polytransfused haematology cases. Cases were selected from the haematology unit of Alexandria main university hospital, Egypt. Complete blood counts, estimation of INF-gamma and hepatitis B and C virus [HBV and HCV] status were conducted on 20 unsplenectomized patients with thalassaemia major and 20 patients with acute myeloid leukaemia [AML] in the maintenance phase and 20 healthy subjects. Mean haemoglobin levels and red blood cell counts were significantly higher in the control group than the AML and thalassaemia groups, while white blood cell counts were significantly lower in the control group than the case groups. Two AML patients [10%] and 1 thalassaemia patient [5%] were HBV-positive, while 5% of both case groups were HCV-positive. Mean values of INF-? were significantly different between AML, thalassaemia major and control groups: 5517 [SD 1142] pg/mL, 1024 [SD 249] pg/mL and 2980 [SD 604] pg/mL respectively

Frequency of haemoglobinopathies: a single-centre, cross-sectional study from Islamabad, Pakistan

Thalassaemia is the most frequent hereditary disorder in Pakistan, with an estimated 8-10 million carriers. This single-centre study reported the frequency of haemoglobinopathies among 504 consecutive cases visiting Islamabad Diagnostic Centre for haemoglobin electrophoresis from July 2010 to February 2011. Haemoglobin electrophoresis was performed on cellulose acetate membrane, followed by staining and densitometric scanning of bands. A total of 143 [28.4%] subjects had haemoglobinopathies. The most predominant was thalassaemia trait [25.6%], followed by thalassaemia major [1.4%] and HbS or HbD [1.4%]. The gene frequencies for thalassaemia trait and major were 0.256 and 0.0139 respectively. The study provides support for continuing efforts towards early detection and characterization of haemoglobinopathies to control the affected births in Pakistan

Hepatitis B surface antigen carrier rate in unvaccinated and vaccinated children with thalassaemia major at Bahawal Victoria Hospital, Bahawalpur, Pakistan

Screening of blood reduces but does not eliminate the risk of hepatitis B virus [HBV] infection in multi-transfused thalassaemia patients. This study was done to evaluate efficacy of HBV vaccination on hepatitis B virus surface antigen [HBsAg] carrier rate in children with thalassaemia major receiving multiple blood transfusions. In a cohort study conducted at a hospital in Bahawalpur, Pakistan, during 2009-10, children with thalassaemia major aged < 60 months who received more than 24 blood transfusions and were HBsAg negative at the time of first blood transfusion were included. Of 196 unvaccinated children, the seropositive rate was 12.2%; while among 218 children vaccinated during the first year of life via the Pakistan Expanded Programme on Immunization, the seropositive rate was only 0,9%. The HBV vaccine was highly effective in reducing the HBsAg carrier rate in children with thalassaemia aged < 5 years

Reproductive behaviour of mothers of children with beta-thalassaemia major

Thalassaemia is the most common monogenic autosomal hereditary disease worldwide. This questionnaire-based cross-sectional study looked at the reproductive behaviour of 156 mothers of children affected with beta-thalassaemia major [Cooley anaemia] in Fars province, southern Islamic Republic of Iran. Regardless of the number of affected children, the parents of children with Cooley anaemia had an average of 3 unaffected children, the same as the average forthe provincial population.The findings indicate that reproductive compensation occurs in families with a child with Cooley anaemia in this province. Genetic counselling, either before marriage or after the birth of the first affected child, had a significant effect on lowering the number of children born

Quality of life of Iranian beta-thalassaemia major patients living on the southern coast of the Caspian Sea

In the present study, the aim was to explore the quality of life of thalassaemia major [TM] patients according to age, sex, school performance, severity and complications of the disease. A cross-sectional descriptive study was conducted. Quality of life was evaluated by 4 questionnaires; demographic characteristics, the short form 36 health survey [SF-36], Persian version of symptoms checklist-90-revised [SCL-90-R] and life satisfaction index [LSI]. 687 [41.08%] of the eligible patients with TM completed the questionnaires. With the SF-36 questionnaire, 329 [47.9%] participants had an excellent level of physical functioning. With the SCL-90-R questionnaire, 446 [64.9%] participants had a global severity index of > 0.7, considered psychiatric patients, 141 [20.5%] patients had GSI between 0.4 and 0.7, considered suspected psychiatric patients and 100 [14.6%] participants had GSI of < 0.4, considered non-psychiatric patients. The mean score of LSI questionnaire was 20.50 [SD 5.95], range 2-37. Beta-TM patients are at risk of psychiatric symptoms and need appropriate psychiatric counseling

Role of HFE gene mutations on developing iron overload in beta thalassaemia carriers in Egypt

A case-control study aimed to determine the prevalence of C282Y, H63D and S65C mutations of the HFE gene in beta thalassaemia carriers and investigate their influence on iron absorption. A total of 41 beta-thalassaemia carriers and 40 control subjects without haemoglobinopathies were screened for the C282Y, H63D and S65C mutations by polymerase chain reaction-restriction fragment-length polymorphism. The iron status in these subjects was studied and correlated with the HFE gene mutations. H63D, S65C and C282Y allele frequencies were 30.5%, 13.4% and 7.3% respectively in [3-thalassaemia carriers and 10.0%, 2.5% and 0.0% respectively in the control group. Compound heterozygosis was found in 10 carriers [24.4%]. The transferrin saturation level was high in compound heterozygote cases. Our study has shown that the HFE gene mutations are common in Egypt among beta-thalassaemia carriers compared with normal controls

Molecular genetics of beta-thalassaemia syndrome in Pakistan

This molecular genetics study was conducted in Karachi, Pakistan from 2004 to 2006 to provide guidelines for prenatal diagnosis programmes in the country. Blood samples of patients with beta-thalassaemia minor [n = 200] and beta-thalassaemia major [n = 150] were collected from hospitals, transfusion centres and diagnostic laboratories from different districts of Karachi, representing 5 major ethnic groups. Molecular analysis revealed 11 genetic mutations of the beta-thalassaemia gene, among which 5 mutations accounted for 88% of the total beta-thalassaemia genes identified [IVS-1-5 [G-C], Fr 8/9 [+G], Fr 41/42 [-TTCT], IVS-1-1 [G-T] and Del 619]. Other mutations identified were: CAP+1, IVS-II-1 [G-A], Cd 5 [-CT], Cd 15 [G-A], Cd 16 and Cd 30

Frequency of haemoglobinopathies at premarital health screening in Dohuk, Iraq: implications for a regional prevention programme

Beta-thalassaemia major and sickle-cell disease are important health problems in Iraq. To provide information for a prevention programme, the frequency of haemoglobin disorders was mapped in Dohuk governorate. A total of 591 couples [1182 individuals] attending health centres for premarital health screening were tested; 44 [3.7%] were found to be carriers of beta-thalassaemia, 14 [1.2%] of the sickle-cell gene and 1 [0.1%] of delta beta-thalassaemia. A total of 3 couples [i.e. 5/1000] were at risk of having a child with beta-thalassaemia major, and the estimated number of affected children with a major haemoglobinopathy was 39 per year. The findings stress the importance of a regional prevention programme for haemoglobinopathies based on premarital screening, counselling and prenatal diagnosis

Combination therapy with interferon and ribavirin for chronic hepatitis C infection in beta-thalassaemia major

Treatment of chronic hepatitis C virus [HCV] infection in transfusion-dependent betathalassaemia major patients is complicated by existing hepatic siderosis and the fear of ribavirinassociated haemolysis. We evaluated the efficacy and side-effects of combination interferon-alpha [INF] and ribavirin therapy for HCV-infected thalassaemia patients. A total of 17 patients were enrolled [10 nonresponders to INF monotherapy, 7 naive to treatment, mean age 23.1 years] and they received 12 months of combination therapy. The sustained virological response rate 6 months after treatment was 58.8%. Blood transfusion requirements during treatment temporarily increased by 36.6%. Combination therapy was tolerated by, and may be useful for, HCV-infected thalassaemia major patients

Gall bladder contractility in children with beta-thalassaemia

We studied gall bladder contractility in 61 children with beta-thalassaemia who were asymptomatic for gall bladder disease and 51 sex- and age-matched controls in Cairo, Egypt, using real-time ultrasonography. Multiple gall bladder stones were present in 18.0% of thalassaemia patients and sludge in 6.6%. There were statistically significant differences between thalassaemia patients and controls in gall bladder fasting volume, residual volume, emptying time and contraction index. There was significant positive correlation between fasting and residual volumes and age, weight and height, and between fasting volume and body mass index and serum ferritin level. Contraction index was negatively correlated with serum total bilirubin. Impaired gall bladder motility was evident in patients with betathalassaemia and it may be related to disease duration, serum ferritin and total serum bilirubin level

Screening for beta-thalassaemia carriers in Egypt: significance of the osmotic fragility test

To estimate beta-thalassaemia carrier rate and to determine an accurate mass screening test, we tested 1000 randomly selected children aged 5-16 years from different geographical areas of Egypt. Microcytosis was present in 412 participants. The osmotic fragility test was positive in 81.1% of the 90 beta-thalassaemia carriers; in the indeterminate group [12 participants], the test was positive in 83.3%; in the 310 who were iron deficient, the test was positive in 63.9%. beta-thalassaemia carrier rate was >/= 9%. Serum iron, microcytosis, HbA2 level and transferrin saturation were accurate tests for detecting carriers. For the one-tube osmotic fragility test, sensitivity was 87.0% and specificity 34.1%; the test has limited use for a mass screening programme in Egypt, where iron deficiency is prevalent

Seroprevalence of hepatitis C virus specific antibodies among Iraqi children with thalassaemia

The seroprevalence of hepatitis C virus [HCV] specific antibodies and HCV genotypes distribution were studied among 559 Iraqi children with thalassaemia in receipt of repeated blood transfusions. HCV-specific antibodies were detected in 376 [67.3%] serum samples using third-generation enzyme immunoassay and confirmatory immunoblot assays. Of 78 randomly selected sera, 48 [61.5%] were HCV-RNA positive. HCV genotypes 1a, 1b, 4 and mixed 1b and 4 were demonstrated in 13 [27.1%], 11 [22.9%], 17 [35.4%] and 7 [14.6%] sera respectively. Strict measures for the controlling the spread of HCV are needed by introducing advanced techniques for blood donor screening

Evaluation of the national health policy of thalassaemia screening in the Islamic Republic of Iran

We reviewed the medical and economic burden of thalassaemia major with emphasis on prenatal diagnosis for disease prevention as the most economic health care policy approach. The current programme in the Islamic Republic of Iran screens couples just before marriage, identifies carriers and refers them for genetic counselling. We searched the current literature for a refined model and enquired into compliance issues in interviews with physicians, couples and families with affected children. The programme was unsatisfactory in comparison with comparable programmes in the Mediterranean region. We devised a simple decision tree that incorporates cost-effectiveness and technical, methodological and social issues that affect compliance. While revisions to the policy could improve efficiency, follow-up is needed, especially to provide prenatal diagnosis for carrier couples

Prevalence of endocrine complications in beta-thalassaemia major in the Islamic Republic of Iran

To identify the prevalence of endocrine dysfunction in Iranians with beta-thalassaemia, we assessed thyroid, parathyroid, pancreatic and adrenal function in 150 beta-thalassaemic patients aged 10-22 years at the Paediatrics Unit, Shiraz University of Medical Sciences. Primary hypothyroidism was found in 6.0% of patients [mean age: 14.6 +/- 1.9 years], hypoparathyroidism in 7.3% [14.5 +/- 3.2 years], type 1 diabetes mellitus in 7.3% [13.9 +/- 2.8 years] and adrenal insufficiency in 1 patient. The relatively high frequency of endocrine dysfunction found in our study may be a result of poor disease control and management in early life when irreversible tissue damage occurs due to iron overload. These findings reinforce the importance of regular follow-up of patients with beta-thalassaemia major for early detection and management of associated complications

Antioxidant micronutrients in children with thalassaemia in Egypt

Repeated blood transfusions in patients with thalassaemia subject them to peroxidative tissue injury by secondary iron overload. To study the relationship between iron overload and antioxidant micronutrient status among children with thalassaemia, we measured serum levels of vitamins A and E, zinc, selenium, and copper in 64 children with beta-thalassaemia major and 63 age- and sex-matched controls. All of these elements were significantly lower in the thalassaemic children compared with controls. There was a highly significant inverse correlation between serum ferritin and serum retinol levels, and significant inverse correlations between serum iron and retinol and between serum iron and selenium. Serum ferritin showed a significant positive correlation with duration of chelation and transfusion treatments. Ways are needed to counteract this oxidative damage and its deleterious effect on the prognosis of thalassaemia

A community-based study of common hereditary blood disorders in Oman

We assessed the prevalence of three common hereditary blood disorders [sickle-cell and beta-thalassaemia traits and glucose 6-phosphate dehydrogenase deficiency] among the Omani population. We interviewed a representative sample of 6103 Omani households and blood samples from 6342 children aged 0-5 years were collected. About 27% of Omani males had inherited glucose-6-phosphate dehydrogenase deficiency [compared with 11% of females] while countrywide prevalence rates for the sickle-cell and beta-thalassaemia traits were estimated to be 5.8% and 2.2% respectively and showed no significant gender differences. There was a significant association between all three disorders and region of the country

Bone marrow transplantation in thalassaemia patients in Shiraz, Islamic Republic of Iran

We report the results of allogeneic bone marrow transplantation in 26 female and 37 male patients with beta-thalassaemia major [age range: 2-17 years], performed at Namazi Hospital over the period 1992-99. In all cases, standard conditioning and immunosuppressive regimens were employed. Currently, 50 patients remain thalassaemia-free, 9 of whom have developed chronic graft-versus-host disease. There were 8 deaths among the 13 unsuccessful transplant cases: 4 due to acute uncontrollable graft-versus-host disease, and 4 to non-transplant-related causes such as hypoglycaemia, hypersensitivity reactions and advanced disease. We conclude that allogeneic bone marrow transplantation is an effective therapy for the treatment of beta-thalassaemia major, particularly for patients classified as classes I and II