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PubMed2002

Psychosocial problems in children with thalassemia and their siblings.

Beta-thalassemia is a chronic illness causing serious symptoms to children and a burden to families. The purpose of this study was to evaluate psychosocial problems in children with thalassemia and their siblings by using a semi-structured interview and the Pediatric Symptom Checklist (PSC). The study sample included 82 children with thalassemia, 20 siblings, and 50 control children without a chronic illness. With children and families demographically controlled, psychosocial problems were significantly more common in children with thalassemia than in those without chronic illness, 28.05 per cent vs 4 per cent (p=0.001), but there was no difference between siblings and the controls, 5 per cent vs 4 per cent (p=0.64). The mean PSC score in children with thalassemia was higher than that in the sibling and control group (18.34 vs 10.95 and 10.28, respectively; p<0.001). These findings suggest an increased risk of psychosocial problems in children with thalassemia that psychosocial intervention may be required to prevent major psychiatric disorders.

Adolescent↗
PubMed2002

Early detection of cardiac involvement in beta-thalassemia children.

BACKGROUND: Beta-thalassemia major and beta-thalassemia/HbE are the important causes of chronic hemolytic anemia in Thailand. The objectives of the study were to determine variables associated with cardiac involvement in asymptomatic beta-thalassemia patients. PATIENTS AND METHOD: The authors studied beta-thalassemia major and beta-thalassemia/HbE patients who came to the clinic between July 1st 1999 and July 31st 2000. There were 211 asymptomatic patients included in study. Their ages ranged from 2.6 to 18.2 years. Previous clinical history including blood transfusion and iron chelation were recorded. All patients received a thorough physical examination, chest X-ray, electrocardiogram and echocardiogram. Patients who had abnormal systolic or diastolic function detected by echocardiogram were identified as having cardiac involvement. RESULTS: Cardiac involvement was found in 26 patients (12.3%). There was no difference in physical examination between patients who had and did not have cardiac involvement. Abnormal chest X-Ray defined as cardiothoracic (CT) ratio>0.55 and electrocardiogram (ECG) findings of left or right ventricular hypertrophy were associated with cardiac involvement. Other associated findings were older age and lower average pretransfusion hematocrit (23 +/- 6.6%). CONCLUSIONS: In asymptomatic beta-thalassemia children, chest X-ray and ECG should be used for screening patients for the detection of cardiac involvement.

Adolescent↗
PubMed2003

Rheological behaviour of red blood cells in beta and deltabeta thalassemia trait.

In major and intermediate thalassemia a decrease in erythrocyte deformability and increased erythrocyte aggregability has been described, but few studies have dealt with the question of rheological red blood cell behaviour in minor beta and deltabeta thalassemia carriers, mostly in deltabeta, because it is a less common entity. To ascertain whether there are differences in red blood cell behaviour between minor thalassemia and controls and between both types of thalassemia trait beta and deltabeta, we determined erythrocyte deformability and aggregability in 30 beta and 30 deltabeta trait carriers diagnosed both with conventional methods and globin gene analysis, and in 40 age- and sex-matched controls. Erythrocyte deformability determined by means of the Rheodyn SSD showed a statistically significant lower Elongation Index (EI) at all the shear stresses tested in both thalassemic groups compared with controls (p<0.001). Minor beta thalassemia carriers showed lower EI than deltabeta carriers (p<0.001). Erythrocyte aggregability measured with the Myrenne aggregometer was significantly lower in both thalassemic groups than in controls (p<0.001), although no significant differences could be observed between both thalassemic groups. The rheological alterations found in thalassemia carriers are in part due to microcytosis, hypochromia and the morphological changes that characterize this kind of anaemia. The less altered deformability found in deltabeta carriers, is in agreement with the fact that it deals with a more benign trait.

Adult↗
PubMed2003

Trans type genotype alpha thalassemia trait: a case study.

This is a case of hypochromic, microcytic red cells in a young adult Caucasian female. It illustrates the importance of performing iron studies to confirm suspected iron deficiency anemia (IDA). Thalassemia minor is often misdiagnosed as IDA and iron therapy may be needlessly administered. Moreover, the patient will be unaware of an inherited hematological disorder which may require genetic counseling. alpha-thalassemia patients with the --/alphaalpha (cis) genotype should be advised of the risk for producing offspring with Hemoglobin H disease (genotype --/alpha-). In this case, DNA analysis confirmed the diagnosis of a trans type gene deletion alpha-thalassemia trait. Ancestry on the maternal side is German and French. On the paternal side the ancestry is Dutch and Scandinavian. Additionally, there was no knowledge of any family history of anemia on either the maternal or paternal side of the family. This case reaffirms that Anglo-Saxon ancestry does not preclude the diagnosis of alpha-thalassemia. It also supports the findings of Wang that when laboratory findings are suggestive of alpha-thalassemia minor, a moderately decreased MCV, slightly elevated red cell count, and the absence of hemoglobin H inclusions is probably indicative of trans rather than cis type gene deletion alpha-thalassemia trait.

Adult↗
PubMed2002

NESTROFF as a screening test for detection of Beta-thalassemia trait.

Naked Eye Single Tube Redcell Osmotic Fragility Test (NESTROFT) was applied to 110 patients of suspected cases of beta-Thalassemia and other haemoglobinopathies. Out of 110 patients, 10 cases were of beta-Thalassemia major, 35 of Thalassemia minor and 65 of sickle cell disease. The study was carried out to evaluate the effectiveness of NESTROFT as a screening test for beta-Thalassemia trait. The test was successful in detecting 34/35 subjects with beta-Thalassemia trait. Sensitivity of the test was 97.1% and specificity was 100%. The test was positive in detecting other haemoglobinopathies like sickle cell disease also. The test proved to be simple, cheap easy to perform and adaptable for mass screening coming close to an ideal screening test for beta-Thalassemia trait.

Female↗
PubMed1976

[Viability of beta-thalassemia hetero- and homozygotes in several populations of Central Asia].

Viability of hetero- and homozygotes for beta-thalassemia was studied in two isolated populations born after 1950 in conditions of malaria absence. Pregnancy outcomes and probability to get 16 years old were compared in marriages, in which one or both parents were heterozygous for beta-thalassemia, and in marriages, with both parents being normal. The ratio of children with normal genotype and children heterozygous for beta-thalassemia in families, where one parent was heterozygous for beta-thalassemia. Preliminary conclusions are made on the basis of the data obtained. Viability of children in families where one parent is heterozygous for beta-thalassemia is found to decrease in the absence of selective factors (malaria) as compared with normal children. The highest viability decrease was observed in the progeny of those families where both parents were heterozygous beta-thalassemia. Elimination mainly takes place within the first year of life.

Female↗
PubMed2003

Asymptomatic and mild beta-thalassemia in homozygotes and compound heterozygotes for the IVS2+1G-->A mutation: role of the beta-globin gene haplotype.

BACKGROUND AND OBJECTIVES: We report on two families in which the beta(0)-thalassemia mutation IVS2+1G-->A occurs either in the homozygous or compound heterozygous condition with other beta-thalassemia determinants. In the first family the proband, homozygous for the IVS2+1 determinant, is asymptomatic and was detected by chance during a screening program for beta-thalassemia. In the second family, the proband is a 43-year old female with a very mild thalassemia intermedia due to compound heterozygosity for the IVS2+1G>A and IVS1+110G>A mutations. Her father was diagnosed as having a thalassemic disorder only during the family studies carried out because of the proband's condition. He is a compound heterozygote for the Sicilian type deltabeta(0)-thalassemia and the IVS2+1 mutation and has a normal level of hemoglobin. DESIGN AND METHODS: In both families, the heterozygous carriers of the IVS2+1G>A have unusually elevated levels of fetal hemoglobin (HbF), and the homozygotes showed 98% HbF, reflecting an increased production of well hemoglobinized F-cells not associated with a significant erythroid expansion. RESULTS: The high HbF levels co-segregate with the beta-thalassemia mutation; the size and structure of both pedigrees do not allow the contribution of unlinked genes to the elevated production of HbF to be assessed. INTERPRETATION AND CONCLUSIONS: We propose that the unusual phenotypes resulting from homozygosity and compound heterozygosity for IVS2+1 are, against the background of a polygenic quantitative control of HbF expression, principally due to elements, such as repetitive sequences or single nucleotide polymorphisms, within or closely linked to the beta-gene cluster. These are potentially implicated in chromatin environment modifications, and could, therefore, be responsible for sustained HbF synthesis during development.

Adolescent↗
PubMed2003

Thalassemia minor, the Gilbert mutation, and the risk of gallstones.

BACKGROUND AND OBJECTIVES: Gallstones are a frequent complication of hemolytic anemias. The association with the mutation of the A(TA)nTAA motif of the promoter of the bilirubin UDP-glucuronosyltransferase gene has also been reported to increase the risk of gallstones. We studied the prevalence of cholelithiasis in thalassemia minor and the role of the Gilbert mutation. DESIGN AND METHODS: A group of 143 women obligate carriers of beta-thalassemia, and a control group of 170 hematologically normal women were compared. In both groups serum bilirubin, total cholesterol, and alanine-aminotransferase were measured and analysis of the mutation of the UGT-1A gene was performed. On the same occasion the women underwent ultrasonography. RESULTS: Total and unconjugated bilirubin were significantly higher in beta-thalassemia heterozygotes. Carriers of thalassemia had a higher prevalence of gallstones (20.3% vs 10.6% OR=2.15). Among the control group, the prevalence of gallstones did not differ significantly in relation to UGT1-A1 genotype, while in women carriers of beta-thalassemia it increased in an allele dose-dependent fashion. As compared to the controls, the odds ratios for the development of gallstones in thalassemic women were 1.68 (95% C.I.: 0.70-4.03) for those who had the normal UGT1-A1 genotype [(TA)6/(TA)6], 2.31 (95% C.I.: 1.06-5.02) for heterozygote carriers of the mutated genotype [(TA)7/(TA)6] and 3.88 (95% C.I.: 1.31-11.55) for those homozygous for the mutated genotype [(TA)7/(TA)7]. INTERPRETATION AND CONCLUSIONS: Thalassemia minor represents a risk factor for cholelithiasis and the Gilbert mutation further increases this risk. This is an additional example of how two genotypes can interact and modify a phenotype.

Alleles↗
PubMed2003

Deniz: the electronic database for beta-thalassemia mutations in the Arab world.

OBJECTIVE: Data on the distribution of beta-thalassemia mutations in Arab populations are usually destined to disparate locations and much of these become increasingly difficult for an average researcher to locate. That is why we aimed at establishing an electronic database network, called Deniz, for beta-thalassemia allele frequency distributions in the Arab world at http://biobase.fatih.edu.tr. METHODS: The scheme of the database combines the benefits of the relational and hierarchical systems. Detailed statistics of the frequencies of beta-thalassemia mutations are retrieved in tabular forms. Multiple permanent connections allow flexible movement within the database. Queries are processed by the systems language and sent to the user's browser as hypertext markup language documents. RESULTS: The database catalogues the frequencies of beta-thalassemia mutations in 14 Arab countries as pooled from the analysis of 3,138 chromosomes by 36 laboratories. Of the 57 B-globin gene mutations reported in Arabs, IVS-I-110 (G-A), IVS-I-5 (G-C), IVS-I-6 (T-C), IVS-II-1 (G-A), and IVS-I-1 (G-A) are the most encountered and they account for approximately two thirds of the Arab chromosomes registered in Deniz. CONCLUSION: In addition to its importance as a hub of updated information on the distribution of beta-thalassemia mutations in Arabs, information in Deniz may be used to predict diagnostic strategies that may be offered to natives of unstudied countries. Incidence data may also give important clues on the possible origins of beta-thalassemia in the Arab world. The integration of Deniz with other databases is currently in process and researchers are invited to contribute to the growth of the database.

Alleles↗
PubMed2003

[A rare transcription mutation (-90 C-->T) in a Chinese family with beta-thalassemia].

OBJECTIVE: To identify a rare transcription mutation (C-->T) at position -90 of the beta-globin gene previously unreported in the beta-thalassemia carriers from a Chinese family. METHODS: In phenotype analysis, standard hematological techniques were used to measure RBC counts and Hb concentration. Reverse dot blot (RDB) analysis, which can simultaneously detect 18 known types of beta-thalassemia mutations in Chinese, was used to scan beta-globin gene mutations. DNA sequence analysis of the entire human beta-globin gene was performed to characterize the underlying causative mutation of the sample and to identify its genotype. A semi-quantitative RT-PCR method was used to measure beta-globin gene expression in the form of mRNA from the subjects. RESULTS: The proband, his brother and his mother presented a typical beta-thalassemic trait with reduced mean corpuscular volume (MCV, 68.2-73.6 fL) and elevated level of Hb A(2) (5.7%-6.4%) but no known beta-thalassemia mutations were found in the samples by RDB analysis. DNA sequencing of the beta-gene region of these three samples revealed heterozygosity for the C-->T substitution at position -90 within proximal CACCC box of the beta-globin gene promoter element, which was previously unreported in the Chinese population. Analysis of mRNA from the positive carriers demonstrated that the mutant beta-globin gene significantly reduced beta-globin transcription (mutants: 2.233 +/- 0.01 vs normal: 3.779+/-1.19; 95%CI: 3.060, 4.499), showing a level comparable with that of the other beta-thalassemia heterozygotes (2.110+/-0.53, 95%CI: 1.732, 2.488). CONCLUSION: A rare transcriptional mutation that led to beta-thalassemia in Chinese population has been characterized. The findings enrich knowledge of the mutation spectrum of beta-thalassemia.

Adult↗
PubMed2004

Birth of healthy children after preimplantation diagnosis of beta-thalassemia.

BACKGROUND: Clinical programs for preventing beta-thalassemia are presently based on prospective carrier screening and prenatal diagnosis. This paper report an achievement of a pregnancy with unaffected embryos using in vitro fertilization and embryo transfer (IVF-ET), in combination with preimplantation genetic diagnosis (PGD), for a couple at risk of having children with beta-thalassemia. METHODS: A couple carrying different thalassemia mutations, both a codon 41 - 42 mutation and the IVS II 654 mutation, received standard IVF treatment, with intracytoplasmic sperm injection, embryo biopsiy, single cell polymerase chain reaction (PCR) and DNA analysis. Only unaffected or carrier embryos were transferred to the uterine cavity. After confirmation of pregnancy, a prenatal diagnosis was performed. RESULTS: Of a total of 13 embryos analyzed for beta-globin mutations, PGD indicated that 2 were normal, 3 were affected, and 6 were carriers. Diagnosis could not be made in the other 2 embryos. Three embryos were transferred to the uterus on the third day after oocyte retrieval. Ultrasonography revealed a twin pregnancy with one blighted ovum. The prenatal genetic diagnosis revealed that both fetuses were unaffected, and two healthy boys were born, confirming the results of PGD. CONCLUSIONS: We developed a single-cell based primer extension preamplification (PEP)-PCR assay for the detection of beta-thalassemia mutations. The assays were efficient and accurate at all stages of the procedure, and resulted in the birth of PGD-confirmed beta-thalassemia free children in China. PEP was used here in PGD for beta-thalassemia.

Adult↗
PubMed2004

[Diagnosis of beta-thalassemia].

The purpose of the case study was to evaluate the potentialities of using the data found by hematology analyzers in the diagnosis of beta-thalassemia. Eighty (80) persons with homozygous beta-thalassemia, 180 carriers of the beta-thalassemia gene and 50 healthy subjects were examined. Counts of erythrocytes, content of hemoglobin, hematocrit and erythrocytes indices (MCV, MCH, MCHC) were determined in all of them. Besides, also in all cases, the osmotic erythrocyte resistance was investigated; the content of fetal hemoglobin was determined; electrophoresis of hemoglobin in the cellulose-acetate films was made as well as a lack or presence of the interplay between the studied parameters was established through estimating the correlation factor. The results showed significant changes in many parameters both in homo- and hetero-thalassemia versus such parameters in healthy subjects. Blood tests by hematology analyzers in cases of carrier-state of the thalassemia gene were acknowledged to be extra valuable since no clinical signs are available in such disease variation. MCV and MCH are most useful parameters in the diagnosis of heterozygous thalassemia for a reliably direct correlation was found between them.

Autoanalysis↗
PubMed1997

[A rapid method for diagnosing alpha-thalassemia-1 of Southeast Asia type].

OBJECTIVE: To explore a rapid method for diagnosing alpha-thalassemia-1 of Southeast Asia type. METHODS: Seventy-six patients were detected by polymerase chain reaction (PCR). RESULTS: Thirty-one patients were diagnosed as alpha-thalassemia-1 of Southeast Asia type. PCR was compared with polyacrylamide gel electropheresis for detecting zeta-globin chain in 56 patients and the correspondance rate was 83.93%. Ten cases of prenatal diagnosis were performed by PCR, and the results showed that one was Hb bart's hydrop fetalis, four were carriers of alpha-thalassemia-1 of Southeast Asia type, and the others were normal fetalis or carrier of alpha-thalassemia-2. CONCLUSION: The PCR method is simple and accurate for diagnosing alpha-thalassemia of Southeast Asia type, and it provides a new approach to the prenatal diagnosis of alpha-thalassemia fetalis and the detection of alpha-globin gene cluster.

Adolescent↗
PubMed2005

[Rapid detection of three common deletional alpha thalassemias in Chinese by single-tube multiplex PCR].

OBJECTIVE: To develop a simple, rapid, accurate, and cost-effective single-0tube multiplex polymerase chain reaction (PCR) assay, which could be used for molecular screening and prenatal diagnosis, for detection of three commonest deletional alpha-thalassemias (-- (SEA), -alpha (3.7) and -alpha (4.2)) in Chinese population. METHODS: Four groups of primers were designed on the basis of gap-PCR, and the PCR reaction condition was optimized systematically with the purpose of amplifying effectively specific DNA fragments that are indicative of the respective genotypes of these three deletional alpha thalassemias. In addition, a pair of primers was designed to amplify LIS1 3' untranslated region (UTR) fragment for use as a separate control for amplification running. A total of 72 blood and prenatal archival DNA samples with various known alpha thalassemia genes or normal alpha globin gene sequence that had been confirmed by Southern blotting analysis or DNA sequencing were collected to test the specificity of this assay by blind analysis. In addition, DNA samples from nine couples at high risk of alpha thalassemia were also analyzed to evaluate the reliability of this technique in prenatal implementation. RESULTS: Homozygote, heterozygote and double heterozygote of the three commonest deletional alpha thalassemias were well detected simultaneously by this established method. For normal allele, a 2.4 kb amplified band as a systematic control and an alpha (2) gene-specific amplicon of 1.8 kb were produced. Besides the two amplified fragments of normal allele, it was found that a 1.3 kb, a 2.0 kb or a 1.6 kb amplified band could be simultaneously shown for representing --(SEA), -alpha (3.7) and -alpha (4.2) alleles, respectively, in the heterozygous states. In a blind test, this technique accurately detected 100% of the DNA samples previously characterized by Southern blotting or DNA sequencing, and it was successfully applied to prenatal diagnosis of alpha thalassemia in nine at-risk families. CONCLUSION: The single-tube multiplex PCR protocol presented in this study is easy-to-handle, rapid, reliable and is cost-effective for detecting --(SEA), -alpha (3.7) and -alpha (4.2) chromosomes, and it is suitable for large-scale population screening and for rapid molecular genotyping in clinics.

Asian People↗
PubMed2005

Prenatal diagnosis of beta-thalassemia in the West Bank and Gaza.

OBJECTIVE: This study focuses on the genetic aspect of beta-thalassemia among 88 at risk couples from the West Bank and Gaza, and the attitude of these couples toward prenatal diagnosis and its outcome as a preventive method. METHODS: We tested 130 prenatal samples for beta-thalassemia during the period from January 1999 to July 2005. We performed prenatal diagnosis in these cases using the amplification refractory mutation system, as well as beta-globin gene sequencing as a conformational method. We drew a chorionic villus sample (CVS) for 1st trimester pregnant women and amniotic fluid (AF) for those in the 2nd trimester depending on the stage the pregnant woman contacted our lab. RESULTS: The DNA analysis of 130 prenatal samples revealed 25 (19.2%) cases of beta-thalassemia major and 67 (51.5%) cases of beta-thalassemia carriers, while the remaining 38 (29.2%) were normal. The 25 affected fetuses were aborted according to the wishes of the parents. In the tested 88 couples, 14 mutations of beta-thalassemia were identified. These mutations and their frequencies were: IVSI-110 (22.2%), IVSI-6 (13.6%), Cd37 (12%), IVSI-I (9.7%), IVSII-1 (6.2%), Cd39 (9%), Cd6 (sickle cell mutation) (8.5%), Cd5 (8%), Cd8/9 (2.8%), Cd106/107 (2.8%), -30 promoter (1.1%), -88 promoter (1.1%), IVSI (-1) (2.3%) and IVSI-5 (0.6%). We found that in 77.3% of the couples, both the mother and the father carry the same type of mutation while 22.7% of them carry different mutations. We found 77.9% consanguinity among the couples CONCLUSION: We found very good acceptability for prenatal diagnosis in beta-thalassemia afflicted families. All couples with affected fetuses opted for abortion. The spectrum of mutations in the tested couples revealed several similarities to neighboring countries with -88 promoter mutation reported for the first time in our region.

Alleles↗
PubMed2005

Screening for thalassemia and hemoglobinopathy in a rural area of Thailand: a preliminary study.

The present study aimed to screen thalassemia and hemoglobinopathy in Baan Na-Ngam, Chachoengsao Province, Thailand. Blood samples were obtained from 266 volunteers; 105 males and 161 females aged 7 to 49 years. Blood samples screened for thalassemia combining the OF and modified DCIP precipitation tests. CBC, RBC indices, hemoglobin typing, HbA2 and Hb E were determined. Combined OF and DCIP tests found that in normal subjects, 128 out of 155 were negative for both, 3 were -/+ pattern, 22 were +/- pattern and 2 was positive for both. Interestingly, one sample showed an abnormal hemoglobin pattern, which could not be determined by automated LPLC. Three beta-thalassemia trait subjects were positive for only the OF test. For the Hb E trait, 57 out of 94 were -/+ pattern; 37 were positive for both tests. Moreover, 14 homozygous Hb E subjects were positive for both tests. The prevalence of beta-thalassemia trait was 1.1%, Hb E trait was 35.3% and homozygous Hb E was 5.3%. Since DNA analysis was not performed, alpha-thalassemia1 and alpha-thalassemia2 traits cannot be excluded. In conclusion, a combination of the OF and DCIP tests is suitable for preliminary screening for thalassemia and hemoglobinopathy. However, RBC parameters, hemoglobin typing and PCR analysis will provide more specific diagnosis, especially in alpha-thalassemias.

Adolescent↗
PubMed2006

[Damage of iron metabolism and oxidoreduction process in children with beta-thalassemia].

beta-thalassemia is the most common monogenic hereditary blood disease in children. It is also considered to be the regional pathology for Georgia. The influence of iron metabolism disorder on metabolic processes taking place in erythrocyte membrane and their role in pathogenesis of beta-thalassemia, is very important until now. The aim of our research was to study the condition of oxidoreduction processes in RBC membranes on the background of iron metabolism disorder in children with beta-thalassemia. We observed 44 patients with beta-thalassemia aged 0.4-14 years. Iron, ferritin, malon-dialdehyde and catalase were evaluated. The carried out investigation revealed, that oxidoreduction processes in patients with beta-thalassemia, together with iron overload, is one of the factors in promoting further disorder of proliferation and differentiation processes in erythrone system and also in formation of ineffective erythropoiesis. The revealed changes in data of iron metabolism. malon-dialdehyde and catalase showed us the need for correction of this disorder. Pathogenetically there are good reasons to include in the combined treatment beta-thalassemia the membrano-protective preparations (vitamin E, acetylcysteine) together with the hemotransfusion and chelator therapy.

Adolescent↗
PubMed1990

Hematologic data in 825 cases of beta-thalassemia trait in Spain.

We present the hematologic data of 825 cases of beta-thalassemia trait (687 cases of beta-thalassemia trait and 138 cases of delta beta-thalassemia trait). There were no significant differences between the red cell indices of the patients with beta and delta beta-thalassemia trait. In patients with beta-thalassemia trait, MCV was significantly reduced in 97% of the males and 99% of the females. All the patients with delta beta-thalassemia trait showed low MCV values. Red cell morphology was altered in the vast majority of cases, with basophilic stippling in 96% of the patients. Most patients came from provinces with the highest incidence of malaria in the past.

Adolescent↗