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At least 955 records · Page 53Linked to original sources
PubMed1999

Variable clinical severity of Hb E beta-thalassemia among Indians.

OBJECTIVE: The aim of this preliminary report was to look at the effect of genetic variations in the alpha, beta and gamma globin genes in 7 cases of hemoglobin E/beta-thalassemia with diverse clinical expression of the disease. METHODS: beta-thalassemia mutations were characterized by PCR and dot blot hybridization. G gamma gene polymorphism (Xmnl) was determined by PCR followed by restriction enzyme digestion and polyacrylamide gel electrophoresis. alpha genotyping was done by Southern blot hybridization. RESULTS: Six cases had a severe beta+ mutation [IVS 1 nt 5 (G-->C)] and one case had a beta zero mutation [F/S 41/42 (-CTTT)]. Hence, the beta-thalassemia mutation does not seem to contribute towards the clinical diversity. alpha-genotyping showed a single alpha-gene deletion of the rightward type in three of the five milder cases. The -158 G gamma (C-->T) substitution was present at least in heterozygous state (+/-) in all the milder cases. CONCLUSIONS: Deletional alpha thalassemia and presence of the -158 G gamma (C->T) substitution are the two factors which appear to be more important in decreasing the severity of the disease rather than the nature of the beta thalassemia mutation.

Adolescent↗
PubMed2000

[Histological picture of liver disease in thalassemia intermedia].

Thalassemia Intermedia (TI) is a clinical definition in use for a spectrum of clinical conditions ranging in severity from the asymptomatic carrier status to the transfusion-dependent status. The histological lesions of the liver in patients affected by TI has not seen well characterized yet. The aim of this study was to define the histological picture of liver disease in TI. To this end we studied our pool of 22 Thalassemia Intermedia patients who underwent liver biopsy; none of them had blood transfusion. We took into consideration fibrosis according to Ishak's staging and iron overload according to Sciot's grading. Moreover, we determined the hepatic iron content by atomic absorption spectroscopy. Our results have shown that, in all patients studied, the histological picture was characterized by the increase in liver iron stores. By Perls's stain haemosiderin appeared to be stored mainly in hepatocytes in the majority of cases. Inspite of the large amounts of liver iron in these patients, fibrosis was absent or mild. We also noted the presence of iron-free-foci, in part of the patients. Our data show that the histological and histochemical picture of liver disease in Thalassemia Intermedia is very similar to that found in Thalassemia Major. The finding of iron-free-foci could induce to consider a follow up of these patients, even if asymptomatic.

Adolescent↗
PubMed2000

Genetic diversity of beta-thalassemia mutations in Pakistani population.

BACKGROUND: beta-thalassemia is one of the most common inherited single gene disorder in Pakistan. It is characterized by reduced or absent beta-globin gene expression resulting in abnormal maturation and survival of red blood cells. Due to high prevalence of this disease in the local population, it has become important for the health care providers to encourage people to utilize laboratory facilities for carrier and prenatal genetic testing. OBJECTIVE: To study the frequency of beta-thalassemia mutations in Pakistani population. SETTING: A tertiary care teaching hospital. METHODS: Blood samples of 72 couples and chorionic villus (CV) biopsy specimen collected at the Aga Khan University Hospital, Karachi were tested by Amplified Refractory Mutation Systems (ARMS) for the 12 most common mutations in the beta-globin gene. RESULTS: Out of 72 chorionic villus biopsy specimen analyzed, 17 (23%) had mutations in both alleles of the beta-globin gene. Homozygosity was identified in 6 CV samples, whereas 11 CV specimens were diagnosed as double heterozygous. Almost 60% of the CV biopsies showed mutations in one allele and were diagnosed as carriers. IVSI-5 (G-C) was the most common mutation identified in this study. It was found in 53% of the subjects and was represented equally in all the ethnic groups except Pathans. Several regional and ethnic differences were observed in the distribution of common mutations, for example in Pathan families Fr 8-9 (+G) mutation was most prevalent. In addition, variation in the distribution of mutations was also observed between the Northern and the Southern regions. CONCLUSION: This study indicates that in Pakistan, the five most common mutations are IVS1-5 (G-C), IVS1-1 (G-T), Fr 41-42 (-TTCT) Fr 8-9 (+G) and deletion 619 bp. An important factor contributing to high incidence of thalassemia is the unawareness among people about the available diagnostic facilities for the prenatal diagnosis in Pakistan. Strict implementation of collective measures including carrier identification, genetic counseling and prenatal diagnosis are required for preventing beta-thalassemia in Pakistan.

Adult↗
PubMed1998

[Gene identification and pedigree analysis of the double mutation heterozygote of beta-thalassemia[-28(A-->G).CD17(A-->T)/N]].

OBJECTIVE: To report the result of gene identification and pedigree analysis of the double mutation heterozygote of beta-thalassemia[-28(A-->G).CD17(A-->T)/N]. METHODS: Polymerase chain reaction in combination with dot-blot hybridization of allele-specific oligonucleotide(PCR/ASO) probes was used. RESULTS: Gene identification was carried out in four probands and 35 other family members. There were 22 patients with beta-thalassemia -28(A-->G) and CD17(A-->T) mutant gene. Based on the clinical features, the results of hematological and biochemical examinations and pedigree analysis, they proved to be the double mutation heterozygote of beta-thalassemia[-28(A-->G).CD17(A-->T)/N], i.e., double point mutations on the same chromosome. CONCLUSION: Double mutation heterozygote[-28(A-->G).CD17(A-->T)/N] is a new type of beta-thalassemia.

Adolescent↗
PubMed2001

[Rapid detection of the common alpha-thalassemia-2 determinants by PCR assay].

OBJECTIVE: Most frequent molecular lesions of alpha-thalassemia-2 determinants are deletions of one alpha-globin gene. Satisfactory PCR methodologies for detecting the deletions are required for molecular diagnosis and genetic screening since there was no internal control in most published PCR-based strategies. The purpose of this study is to develop a reliable PCR protocol specific for the two common alpha-thalassemia-2 determinants with internal control. METHODS: The multiple repeat elements and the high GC-content of the alpha-globin locus impose severe limitations on designing suitable primers and optimizing stable conditions for PCR. In this study, two multiplex PCR systems were successfully set up. One was designed to detect the rightward deletion (-alpha(3.7)/) with two pairs of primers including one newly optimized pair for amplification of the internal standard to indicate the success of failure of PCR amplification. The other, to the leftward deletion(-alpha(4.2)/) with three primers, which were designed according to the newly sequenced data of the -alpha(4.2) and HbQ-alpha(4.2) deletions in this lab(Genbank Accession No. AF221717). In the PCR system, one is used as a common upstream primer and the other two are used as specific downstream primers for typing the normal allele and the deletion one, respectively. RESULTS: Easily interpretable, unambiguous amplifications were observed by using the multiplex PCR systems for the detection of the two common alpha-thalassemia-2 determinants. The three or four primers were run in the same tube under the same condition and both of these two systems could be used at the same thermal cycle parameters. For typing the rightward deletion, a mutant-specific amplification of 1.7 kb and a 1140 bp amplified band as a normal and system control were produced. For typing the leftward deletion, two PCR-amplified bands, a 956 bp fragment specific for a -alpha(4.2) gene and a 1140 bp one for a normal allele were found. CONCLUSION: Two sets of PCR systems with internal controls for detecting the most common two alpha-thalassemia-2 determinants have been established and may be suitable for molecular diagnosis and population screening.

Base Sequence↗
PubMedDate not supplied

Heterozygosity for the H63D mutation in the hereditary hemochromatosis (HFE) gene may lead into severe iron overload in beta-thalassemia minor: observations in a thalassemic kindred.

Heterozygosity for beta-thalassemia (minor) by itself does not lead into iron overload; however, when it is inherited together with a homozygous state for either the H63D or the C282Y mutations of the hereditary hemochromatosis gene (HFE gene), iron overload may ensue. We describe here a kindred in which the propositus, being heterozygote for beta-thalassemia and the H63D mutation of the HFE gene, developed severe iron overload and in turn, chronic liver failure with portal hypertension. Other members of the family with either beta-thalassemia or heterozygous for the H63D gene mutation did not develop iron overload. The interaction between beta-thalassemia and hereditary hemochromatosis is briefly discussed and speculations about other possible genetic mutations leading into familial iron loading are done.

Adult↗
PubMed2001

[Illness knowledge, social support and self care behavior in adolescents with beta-thalassemia major].

The purpose of this study was to explore the relationships among illness knowledge, social support and self-care behavior in adolescents with beta-thalassemia major. The subjects were 58 beta-thalassemia major adolescents recruited from the pediatric hematology outpatient departments of three hospitals in North Taiwan. All data were analyzed by descriptive statistics, one-way ANOVA, t-test, Pearson correlation, and stepwise multiple regression. The results showed that: (1) Scoring in illness knowledge, the best was treatment knowledge, and the worst was the knowledge of complications and symptoms. (2) The result for social support indicated that the family was the major source of support, and that classmates/friends provided the least support for thalassemic adolescents. (3) Scoring in self care behavior, the best was the medical and chelate therapy, and the worst was the management of problems and coping. (4) Individual characteristic differences, including sex, level of education, length of illness, complications of thalassemia, hospitalization due to thalassemic complications and receiving other treatments were correlated with their illness knowledge, social support or self-care behavior. (5) Illness knowledge, social support which were positively correlated with self-care behavior. (6) 50.0% of the variance in self-care behavior can be explained by emotional support from family, general knowledge of thalassemia, treatment knowledge and appraisal support from family. These findings could provide referential material for nursing research and nursing practice.

Adolescent↗
PubMed2001

Effect of sickle cell trait and B-Thalassemia minor on determinations of HbA1c by an immunoassay method.

OBJECTIVE: Glycated hemoglobin determination is being used worldwide to monitor the efficiency of blood glucose control and to plan treatment in diabetes mellitus patients. Several methods are used for measuring glycated hemoglobin, but a possible interference by hemoglobin variants is a major concern. The use of immunoassay methods with glycated hemoglobin-specific antibodies is supposed to overcome this problem. We are evaluating the effect of the most prevalent hemoglobinopathies in the region (sickle trait hemoglobin and B-Thalassemia) on the immunoassay method used in determining glycated hemoglobin. METHODS: Eighty-one whole blood sample hemolysates were tested for glycated hemoglobin using Beckman Synchron LX20 system, 37 of these normal adult hemoglobin represented 22 diabetic and 15 non-diabetic samples. Of the remaining 44 samples, 28 were from B-thalassemia minor and 16 from sickle-cell trait sickle trait hemoglobin patients, all non-diabetic. The samples were collected in ethylenediaminetetraacetic acid anticoagulant and analyzed immediately or stored at 4?C for not more than 2 days. RESULTS: Sickle trait hemoglobin had no effect on glycated hemoglobin measurement by Synchron LX20 while B-thalassemia minor blood elevated the value of glycated hemoglobin to the range of diabetic cases. CONCLUSION: Synchron LX20 glycated hemoglobin immunoassay method gave falsely high glycated hemoglobin results with B-thalassemia minor patient samples. Therefore, while interpreting the results of Synchron LX20 glycated hemoglobin, the patients history regarding hemoglobinopathies should be checked.

Diabetes Mellitus↗
PubMed2001

[Spinal cord compression caused by extramedullary hematopoiesis foci in the course of thalassemia].

BACKGROUND: Extramedullary haematopoiesis is a physiological response to chronic anemia, observed frequently during homozygous thalassemia. It is usually asymptomatic but can be manifested by compression of adjacent organs, particularly the spinal cord. CASE REPORT: A 44-year-old woman diagnosed with thalassaemia intermedia, was admitted for difficulties to walk and sphincter disturbances. Neurologic examination suggested spinal cord compression, which is confirmed by dorso-lumbar resonance magnetic imaging. The histology obtained by laminectomy led to the diagnosis of extramedullary hematopoiesis related to thalassemia. A radiotherapy enabled with good outcome. DISCUSSION: Spinal cord compressions by extramedullary hematopoiesis during thalassemia are uncommon (75 cases in the literature) but can induce severe sequelae if the diagnostic is not rapidly obtained. Magnetic resonance imaging is the gold standard allowing precise diagnosis and spreading of extramedullary hematopoiesis. Radiotherapy and more recently hydroxyurea are the first line treatment. CONCLUSION: This observation recalls that extramedullary hematopoiesis is a differential diagnostic of spinal cord compression in patients with thalassemia. A screening of paravertebral localization of extramedullary hematopoiesis should be performed in high risk thalassemic patients.

Adult↗
PubMed1999

[Screening of beta zero-thalassemia in cord blood from 2,423 newborns in Xilin county of Guangxi].

OBJECTIVE: To investigate the incidence of beta zero-thalassemia in newborns in Xilin county of Guangxi and identify the common type of the gene mutation. METHODS: Cord blood samples from successive 2,423 newborns were screened for beta zero-thalassemia by PAGE, and the gene mutation was assayed by PCR and dot blot hybridization. RESULTS: Seven cases (0.29%) of beta zero-thalassemia were revealed in the 2,423 newborns. The gene mutation types were as follows: three cases of CD17/CD17, two of CD17/CD41-42, one of CD41-42/CD41-42 and one of CD17/IVS-I-1. CONCLUSION: These data might be of help to prenatal diagnosis of beta zero-thalassemia in Guixi district.

China↗
PubMed2000

[Hematopoietic stem cell transplantation for beta-thalassemia major].

OBJECTIVE: To discuss the feasibility of hematopoietic stem cell transplantation for beta-thalassemia major. METHODS: Bone marrow or cord blood of sibling was transplanted to 4 children with thalassemia, whose type of gene mutations was homozygous. All of them were diagnosed as beta-thalassemia major. HLA type was matched in 2 cases, and mismatched with 1 locus in the other 2. RBC type was mismatched in 1 cases. Pretransplant condition including busulfan (BU) 16 mg/kg, cyclophosphamide (CY) 200 mg/kg and anti-thymocyte globulin (ATG) 90 mg/kg. Graft-versus-host disease (GVHD) prophylaxis was cyclosporine-A (Cs-A) and methotrexate (MTX). RESULTS: Two Children had "serum sickness" during pretransplant condition; two children had grade II acute GVHD and 1 developed chronic GVHD, 1 case veno-occlusive disease (VOD), 1 case cytomegalovirus (CMV) interstitial pneumonia and 1 case fungemia post-transplant, which had been cured. The average time for peripheral WBC recovery > 1.0 x 10(9)/L was 16 days, 18 days for neutrophile granulocyte > 0.5 x 10(9)/L, 59 days for Plt > 50 x 10(9)/L and 39 days for Hb > 100 g/L. The average time for WBC recovery to normal was at day 24. The average time of last blood transfusion for patients was 29 days. The patients had to receive about 100 ml blood infusion per 2 months pretransplant, while not infused for 7 approximately 15 months up to now with Hb > 100 g/L. Gene mutation type of patients had changed to donor's. CONCLUSION: We report a successful transplantation of bone marrow and cord blood stem cells for thalassemia major in China. This will give a new strategy for treatment of the disease and further expand the use of stem cells transplantation.

Child, Preschool↗
PubMedDate not supplied

The prevalence and molecular basis of beta-thalassemia in Isparta province and region.

The prevalence and molecular basis of beta-thalassemia in the district of Isparta were determined in a total of 6,054 healthy high school students who were recruited from 21 randomly selected high schools in the Isparta province and region. In 182 subjects, naked eye single tube red cell osmotic fragility test (NESTROFT test) was positive HbA2 was measured by high-performance liquid chromatography (HPLC) in these subjects and was found to be high in 149 subjects. The incidence of beta-thalassemia was 149 in 6,054 (25%). The beta-thalassemia frequency was lower in the city center than in neighboring towns, 1.7% vs. 2.2%, respectively The most prevalent mutation of beta-thalassemia in this region was IVS 1-110 (G-A), followed by Codon 39 (C-T) and IVSII-745 (C-G).

Adolescent↗
PubMed2001

[Study on new techniques for genetic diagnosis of deletional alpha-thalassemia].

OBJECTIVE: To develop polymerase chain reaction (PCR) techniques for diagnosis of three commonest deletional alpha-thalassemia determinants in China: - -(SA), - alpha(3.7) and - alpha(4.2). METHOD: Three groups of primers were designed and used to amplify the respective type of the deletional alpha-thalassemia under an optimized PCR condition, followed by agarose gel electrophoresis and EB-stainning. RESULT: Homozygous and heterozygotes, as well as double heterozygous of the 3 commonest deletions were successfully detected and diagnosed by the developed techniques. The results were identical to that from Southern Blot analysis. Forty two cases of alpha-thalassemia were diagnosed by these techniques. CONCLUSION: The 3 PCR-based techniques established by our lab were accurate, simple, and well reproducible for gene diagnosis of the deletional alpha-thalassemia determinants.

DNA Primers↗
PubMed1975

[Dermatoglyphics in beta-thalassemia major].

The features of dermatoglyphics in 39 children with beta-thalassemia major and in 47 their parents are studied. The control were 70 healthy children. The patients with beta-thalassemia had more often the prevailence of whorls over other finger patterns. There was an increase of the "atd" angle and some increase in the ridge of counts. Parents had also an increase of the amount of whorls, but this increase was less pronounced than under beta-thalassemia. The changes of the dermatoglyphics in parents of children affected with beta-thalassemia major are suggested to ba a phenotypic feature of heterozygous carrier of the mutant gene.

Adolescent↗
PubMed1976

Globin chain synthesis in HbD (Punjab)-beta-thalassemia.

A 23-yr-old man of Greek-Italian ancestry with mild anemia was found to be heterozygous for HbD (Punjab) beta121 glu leads to gin and beta-thalassemia. HbA was not detected upon electrophoresis of the subject's hemolysate, and no synthesis of betaA globin was demonstrated after incubation of peripheral blood or bone marrow with 3H-leucine. The thalassemia gene was thus of the betao variety. The betaD/alpha synthesis ratios were almost equally unbalanced in the blood and bone marrow: 0.53 and 0.61, respectively. The mother of the propositus had beta-thalassemia trait. In peripheral blood the betaA/alpha synthesis ratio was 0.38. The mutant betaD gene thus appeared potentially capable of directing the synthesis of globin chains as efficiently as a normal betaA gene. The mildness of the HbD-betao-thalassemia syndrome appeared to be due to the maintenance of a relatively high total beta/alpha synthesis ratio in the presence of a physiologically neutral structural mutation.

Adult↗
PubMedDate not supplied

Evaluation of soluble transferring receptor levels in children with iron deficiency and beta thalassemia trait, and in newborns and their mothers.

In this study we first aimed to investigate the value of soluble transferrin receptor levels (sTfR) in healthy, iron deficient and beta thalassemia trait children and to determine whether sTfR is a useful indicator of iron deficiency. Secondly, we investigated the effects of iron supplementation of sTfR levels in a group of iron deficient children. Third was to describe sTfR in newborn infants and determine whether or not maternal iron deficiency is an important predictor of infant sTfR. Six groups were formed: Children with iron deficiency (n=22), post-iron therapy (n=16), beta thalassemia traits (n=19), healthy children (n=19), full-term newborns (n=20), and their mothers (n=19), Complete blood count (CBC), serum iron, iron-binding capacity, ferritin and sTfR levels were measured. sTfR/log ferritin indexes were calculated. sTfR levels of children with iron deficiency and with beta thalassemia trait were found to be significantly higher than those of healthy children (p<0.0001 and p<0.001). Children with iron deficiency showed a greater increase in the levels of sTfR than those with beta thalassemia traits (p=0.008). Although sTfR levels of subjects having iron therapy decreased, the levels still remained high compared to controls (p=0.002). Newborns had significantly higher levels of sTfR than controls (p<0.0001). Although sTfR levels of mothers with iron deficiency were higher than those of mothers having no iron deficiency (p=0.009), there was no difference in the levels of sTfR between newborns of both groups of mothers (p=0.790). sTfR is a useful parameter which shows body iron status as well as erythropoietic activity in children. It is independent of mother's iron status, and is due to erythropoietic activity in newborns.

Adolescent↗
PubMed2003

[Two HLA-loci mismatched sibling cord blood transplantation in a severe beta-thalassemia patient].

Allogeneic hematopoietic stem cell transplantation is the only curative therapy for severe beta-thalassemia. This time, the experience of utilizing HLA 2-loci mismatched sibling cord blood transplantation (CBT) in a child with severe beta-thalassemia was firstly reported in our country. A 3-year-male patient had been diagnosed with severe beta-thalassemia at 6 months of age (HbF 86.6%, HbA1 1.7%, HbA2 1.7%, beta globin gene mutation CD17, A-->T/IVS-II-654, C-->T). The patient's HLA typing was A 24,11, B 58,35 and DRB1 03,15. During a subsequent maternal pregnancy. The prenatal diagnosis for thalassemia and prenatal HLA typing analysis were performed on 18 weeks of pregnancy. The results indicated that the male fetus was a heterozygote (beta globin gene mutation N/CD17, A-->T), HLA typing was A 24,11, B 58,51 and DRB1 03,12. 120 ml cord blood was collected at time of delivery, the total numbers of nucleated cells, CFU-GM and CD34(+) cells were 1.830 x 10(9), 16.653 x 10(5) and 3.11 x 10(6), respectively. A new conditioning regimen including: hypertransfusion, continuous i.v. desferrioxamine, busulfan, cyclophosphamide, antithymocyte globulin plus hydroxyurea and fludarabine. GVHD prophylaxis comprised cyclosporin A and mycophenolate mofetil. The viability of cord blood at the time infusion was 92%, The total numbers of nucleated cells, CFU-GM and CD34(+) cells in the transfused cord blood were 12.06 x 10(7)/kg, 1.098 x 10(5)/kg, and 2.04 x 10(6)/kg, respectively. Results showed that the patient's clinical course after cord blood transplantation was unremarkable. Acute GVHD grade I developed on day 15, methylprednisolone 2 mg/kg was given to cure. Neutrophil engraftment (ANC > 0.5 x 10(9)/L) on day 17, platelet engraftment (> 50 x 10(9)/L) on day 50. The patients became independent from red blood cell transfusion since day 80 (when his hemoglobin level kept > 12.5 g/L). His beta globin gene mutation and HLA typing were all the same as the donor's analyzed on day 60 and 200. There was also a switch in blood group from A pre-transplant to O post-transplant. It is concluded that the new conditioning and GVHD prophylaxis regimens allow a successful engraftment in this case. This observation may contribute in developing UCBT as an alternative when matched sibling donors are not available.

Child, Preschool↗
PubMed2003

[Assessment of endogenous intoxication and thrombocyte functions in beta-thalassemia].

The parameters of humeral immunity and of the aggregation function of blood platelets were comparatively analyzed in 11 healthy and 26 children with beta-thalassemia; 18 of them had beta-thalassemia of the homozygous type (spleen was extracted in 8 children, and it remained intact in 10 children). It was demonstrated that there was an increased quantity of antibodies to blood platelets and an increased quantity of large, medium-size and small circulating immune complexes in patients with beta-thalassemia and especially in those, who did not undergo splenectomy; there was also an increased quantity of immunoglobulins of classes A, M, and G, a reduced total activity of the complement and a high parameter of the degree of endogenous intoxication, i.e. the content of medium-size molecular peptides. The mentioned disorders were accompanied by worsened aggregation abilities of blood platelets and by their increased disaggregation. Finally, insignificant changes were detected in patients with beta-thalassemia of the heterozygous type.

Adolescent↗