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PubMed1979

Hemoglobin G San José [beta 2 7 (A4) Glu to Gly alpha 2], beta thalassemia, and alpha thalassemia in a Sicilian family.

A 3-year-old child of Sicilian origin was found to have a severe form of Cooley's anemia. Investigations were extended to other members of her family. In three, a rare beta-chain structural Hb variant, Hb G San José [beta 7 (A4) Glu to Gly], was observed: in the father of the porposita heterozygosity for the abnormal Hb was found to be coexistent with beta o thalassemia; two sisters had lowered MCV and MCH values and levels of the abnormal Hb significantly lower than in other heterozygotes for Hb G San José. The alpha-chain/total beta-chain synthesis ratios suggest an alpha-thalassemic-like effect. Their mother had lowered MCV and MCH values, an Hb A2 level in the upper limit of the normal range, and a balanced alpha-chain/beta-chain synthesis ratio. Therefore, the possibility of coexistence of an alpha thalassemia trait with a beta thalassemia trait in the mother of the proposita and with Hb G San José heterozygosity in the two sisters who had lowered levels of abnormal Hb is discussed.

Child, Preschool↗
PubMed1992

Identification of five rare mutations including a novel frameshift mutation causing beta zero-thalassemia in Thai patients with beta zero-thalassemia/hemoglobin E disease.

6 out of 14 uncharacterized beta-thalassemia alleles from 187 Thai beta-thalassemia/HbE patients were identified by direct sequencing of DNA amplified by polymerase chain reaction. A novel mutation occurring from an insertion of adenosine in codon 95, which results in a shift of the reading frame with terminator at the new codon 101, was detected in one patient. In addition, two frameshift mutations not previously reported among the Thai population were also detected in 3 patients: one with a deletion of thymidine in codon 15 and two with an insertion of cytidine in codons 27/28. A frameshift mutation that occurred from a cytidine deletion in codon 41 was also found in one patient in this study. The remaining case was an amber mutation, GAG-TAG, in codon 43 in exon 2 of the beta-globin gene. These mutations bring the number of mutations known to be present in the Thai population to a total of 20, 15 of which were detected in beta-thalassemia/HbE patients.

Adult↗
PubMed2005

Spectrum of beta-thalassemia mutations in North Indian states: a beta-thalassemia trait with two mutations in cis.

OBJECTIVES: To study the prevalence of beta-thalassemia mutations in two North Indian states. DESIGN AND METHODS: Mutation(s) were analyzed in 62 patients using 10 sets of allele-specific primers. RESULTS: Four mutations [IVS1 nt5 (G --> C), F.S 8/9 (+G), F.S 41/42 (-TCTT) and del 619 bp] were found to constitute 94.1% of the total alleles studied. Prevalence of IVS1 nt5 (G --> C) was the highest, closely followed by F.S 8/9 (+G). The latter was thus unusually high and not consistent with earlier reports. Two mutations in cis were detected in one carrier of the thalassemia trait and in his father, thus signifying the possibility of vertical transmission of mutations in a single beta-globin allele. CONCLUSIONS: F.S 8/9 (+G), as well as IVS1 nt5 (G --> C), are the major mutations in Indian states; however, the possibility of multiple mutations in cis in a fetus with the thalassemia trait has to be considered in a prenatal screening program.

Alleles↗
PubMedDate not supplied

Pregnancy in patients treated for beta thalassemia major in two centers (Ali Asghar Children's Hospital and Thalassemia Clinic): outcome for mothers and newborn infants.

Beta-thalassemia major is a severe, transfusion-dependent anemia that also causes infertility due to iron deposition to endocrine organs after overtransfusion. Very few pregnancies have been reported among such patients after modern therapies. In this study, 32 women with thalassemia who were admitted to Ali Asghar Children's Hospital and Thalassemia Clinic conceived spontaneously following prolonged intensive treatment with hypertransfusion and iron chelation. The aim of this study was to estimate the fertility (spontaneous ovulation or induced ovulation) and pregnancy complications for mothers and newborns. These complications included cardiac failure, endocrine and hepatic parameters monitored throughout pregnancy and postpartum, viral infections, term and preterm deliveries, and complications of pregnancy. All case notes were examined and data were analyzed with SPSS software. Twelve babies were delivered by elective cesarean section and the remainder were delivered vaginally. The mean birthweight was 2678 g. All babies were normal; 45 cases were mature and 5 were preterm; 12 cases were aborted spontaneously. Twenty-seven mothers had no cardiac problems, but 5 had cardiac failure. Pregnancy can be safe for mothers and babies in women started early on intensive treatment.

Adult↗
PubMed1982

beta-Thalassemia intermedia homozygous for normal hemoglobin A2 beta-thalassemia. Study in four families.

Four homozygotes for beta-thalassemia with normal hemoglobins A2 and F were studied. The absence or scarcity of transfusion requirement and comparatively low hemoglobin F content were the most important findings. Both parents of 3 patients showed the findings of beta-thalassemia with normal hemoglobins A2 and F. Biosynthetic studies in 2 patients and their both parents showed moderate or mild beta-chain deficiency. The possible reason for this comparatively mild course of a beta-thalassemia syndrome lies in a mild deficit in beta-chain production.

Adult↗
PubMed1988

Beta-thalassemia associated with alpha-thalassemia in Thailand.

In Thailand alpha-thalassemia (thal), beta-thal, hemoglobin (Hb) E and Hb Constant Spring (Hb CS) are prevalent. The incidences are 20-30% for alpha-thal (3.5% for alpha-thal-1 and 16% for alpha-thal-2), 3-9% for beta-thal, up to 54% for Hb E and nearly 8% for Hb CS. Different combinations of these genes result in a spectrum of thalassemia syndromes ranging in severity from asymptomatic to intrauterine death. From the known gene frequencies the numbers of thalassemic patients per generation (total population of 50 million) are as follows: Hb Bart's hydrops fetalis 20,000; homozygous beta-thal 31,250; beta-thal/Hb E disease 162,500; Hb H disease (two genotypes) 200,000, making a total of 413,750. In addition, individuals may carry more than two of the abnormal genes leading to complex thalassemia syndromes such as alpha beta-thal, AE-Bart's and EF-Bart's diseases.

Gene Frequency↗
PubMed2006

[Beta-Thalassemia in Poland. I. Mediterranean mutations in beta-thalassemia].

UNLABELLED: The aim of the present investigation was to verify a common view that thalassemia in Poland is a very rare disease. MATERIAL AND METHODS: 600 patients (270 male and 330 female) aged 2-85 years with microcytosis and no evidence of iron deficiency were examined for beta-thalassemia. Hemoglobin A2 and hemoglobin F and bilirubin were evaluated. Patients with elevated A2 hemoglobin concentration were examined for 8 common Mediterranean mutations. RESULTS: Hemoglobin A2 was increased in 106 patients. In 48 patients there was also an elevation of hemoglobin F and in 42 - of serum bilirubin. 7 different mutations were detected in 46 heterozygous patients (numbers of patients with a particular mutation are in square brackPis): IVS1-6(T>C) [15], IVS2-745(C>G) [14], IVS2-1(G>A) [10], IVS1-1(G>A) [2], CD6-A [2], CD39(C>T) [2], IVS1-110(G>A) [1]. CONCLUSIONS: Frequencies of individual mutations in Poland were different from those encountered in Mediterranean and some Central European countries. Our data indicate that fl-thalassemia in Poland is not a rare disease and should be considered in differential diagnosis of hypochromic anemia.

Adolescent↗
PubMed1990

[A campaign for detection of beta-thalassemia minor and prevention of beta-thalassemia major in the island of Minorca. 2 years' experience].

The high prevalence of beta-thalassemia minor and the occurrence of thalassemia major in Minorca prompted us to develop a prevention campaign. The selected population consisted of primary school students. The campaign was operative during the terms 1986-87 and 1987-88 and had three stages: 1.) informative; 2.) analytical study and diagnosis of carriers; 3.) report of the results and genetic counselling. We studied overall 1862 schoolchildren. The prevalence of beta-thalassemia minor was 3.38%. We discuss the methodology, the results and the effectiveness of the campaign.

Adolescent↗
PubMed1981

Iron loading and endocrine functions in nontransfused patients with beta-thalassemia intermedia or sickle-cell thalassemia.

Body iron stores and endocrine functions were determined in eight patients with chronic hemolytic anemia who had received only small amounts of blood and no iron preparations. Four patients had beta-thalassemia intermedia (BTI) and four had sickle-cell thalassemia (SCT). Hemoglobin levels and degrees of hemolysis were similar in both groups of patients. The patients with BTI showed clear evidence of iron overload, whereas there was no evidence of iron accumulation in the patients with SCT. The three patients with BTI who had endocrinologic evaluations showed endocrine dysfunctions. Two patients with SCT had no endocrine abnormalities and the other two probably had some degree of primary hypogonadism. Iron overload in patients with thalassemia probably results from excessive intestinal iron absorption and can damage various parenchymal and endocrine organs, even in the absence of an external source of iron.

Adult↗
PubMed2001

Variable severity of beta-thalassemia patients of eastern India: effect of alpha-thalassemia and xmnI polymorphism.

Sixty-four thalassemia and E-beta thalassemia patients were studied for factors that modulate the severity of the disease; i.e., mutation of beta-globin gene, presence of alpha-deletion, and presence of an XmnI site at the -158 position of the Gy gene. Presence of alpha-deletion and/or homozygosity for the XmnI site was in general associated with less-severe disease. About 12% of the patients harbored single alpha-gene deletion, and the gene frequency of the XmnI polymophism in these patients is 0.48.

Deoxyribonucleases, Type II Site-Specific↗
PubMed1990

Hemoglobin Dhonburi alpha 2 beta 2 126 (H4) Val----Gly: a new unstable beta variant producing a beta-thalassemia intermedia phenotype in association with beta zero-thalassemia.

While investigating the mechanism of a beta-thalassemia intermedia phenotype in a 34 year old Thai male, a new Hb variant beta 126 Val----Gly named Hb Dhonburi was discovered. Genetic and structural studies revealed the existence of a beta zero-thalassemia genotype in association with the beta variant. The new variant is unstable but exhibits normal oxygen binding properties. Hb Dhonburi was also discovered in the mother of the propositus in association with Hb E.

1-Propanol↗
PubMed1995

Hb Lulu Island (alpha 2 beta 2 107[G9]Gly-->Asp)-beta zero- thalassemia (codon 15; TGG-->TAG), a form of thalassemia intermedia.

Hb Lulu Island [beta 107(G9)Gly-->Asp] was discovered in an East Indian female who carried a common beta zero-thalassemia allele, i.e., codon 15, TGG-->TAG (is a stop codon) in trans. Both abnormalities were detected through sequencing of the amplified beta-globin genes and were confirmed by hybridization with 32P-labeled probes. Hb Lulu Island is mildly unstable with a borderline decrease in oxygen affinity; its instability is less severe than that of Hb Burke or beta 107(G9)Gly-->Arg. The compound heterozygosity expresses as a thalassemia intermedia with moderate anemia, a variable need for blood transfusions, Heinz body formation, and a red cell morphology which is typical for such a condition. The level of HbA2 was greatly increased (6.5-7.0%) as was the delta chain level (12% of total non-alpha) probably because of the instability of Hb Lulu Island and the decreased ability of the beta x chain to form dimers with the normal alpha chain.

Adult↗
PubMedDate not supplied

[Beta-thalassemia in Germany. Results of cooperative beta-thalassemia study].

At present, about 300 patients with thalassemia major are living in Germany. Starting in 1991, a multicenter study in Germany has concentrated on identifying all patients suffering from thalassemia as well as on establishing a uniform therapy protocol including follow-up diagnostic procedures. After six years of study, the data of 198 patients suffering from thalassaemia major were analysed. The majority of these patients originate from endemic regions around the Mediterranean Sea. The patient's median age is 13.8 years (range 1-37.5 yrs.). At present, about 20% of patients are older than 21 years. Regarding transfusion therapy, a shortening of the average transfusion interval to 3 weeks in most cases occurred. Throughout the entire period, median baseline haemoglobin concentrations of 10.0 g/dl could be observed. The evaluation of serum ferritin levels revealed considerable differences depending on patients age. 60% of patients in the first decade of life showed good therapeutic results with serum ferritin levels below 1800 ng/ml. In contrast, 52% of patients older than ten years presented with ferritin levels above 2500 ng/ml. During the observation, a decreasing number of patients with ferritin levels above 2500 ng/ml was observed in patients aged 15 to 21 years of age. The situation of patients aged 9 to 15 years proved to be more problematic. More than half of all treated patients presented with siderotic complications as cardiac disease in 13%, liver disease in 21%, impaired glucose metabolism in 14%, hypothyroidism in 24% and hypogonadism in 59% of all patients. These values did not change considerably during the observation apart from an increase of cardiac disorders to 20%. Since the situation concerning siderosis and the lack of compliance proved to be particularly difficult in adolescent patients, further efforts has to concentrate on this age group.

Adolescent↗
PubMed2004

Allogeneic peripheral blood stem cell transplantation in children with homozygous beta-thalassemia and severe beta-thalassemia/hemoglobin E disease.

To determine the outcome of children with homozygous beta-thalassemia (beta/beta) and severe beta-thalassemia/hemoglobin E disease (beta/E) who underwent allogeneic peripheral blood stem cell transplantation (PBSCT). The authors conducted a cohort study of allogeneic PBSCT in beta/beta and beta/E patients who had 6/6 or 5/6 HLA-matched sibling donors. All patients received a conditioning regimen including busulfan and cyclophosphamide, except one who received busul-fan and cyclophosphamide plus antithymocyte globulin. Graft-versus-host disease (GVHD) prophylaxis consisted of cyclosporine A and methotrexate for eight patients and cyclosporine and mycophenolate mofetil for one patient. Donors received G-CSF for 4 days before leukapheresis collections. There were five beta/beta and four beta/E patients in this study. The median age was 9 years (range 1.5-10 years). The median CD34+ cell count was 7.4 x 10(6) cells/kg recipient body weight. All patients achieved neutrophil and platelet engraftment with a median time of 15 days and 21 days respectively. Acute GVHD grade 2 to 4 appeared in four patients (grade 2, n = 3; grade 4, n = 1). Three patients developed chronic GVHD (limited, n = 2; extensive, n = 1). All patients were alive with a median follow-up time of 23 months (range 7-52 months). Neither graft failure nor graft rejection was observed. Allogeneic PBSCT is feasible for children with beta/beta and beta/E, although the incidence of GVHD was apparently high compared with bone marrow transplant study in Thais.

Blood Transfusion↗
PubMed2004

Low bone mass in prepubertal children with thalassemia major: insights into the pathogenesis of low bone mass in thalassemia.

OBJECTIVE: Low bone mass occurs frequently in the aging thalassemic population. However, limited information exists on bone mass in children with thalassemia major (TM) during their first decade of life. STUDY DESIGN: Spinal bone mineral density (BMD) was measured by dual-energy X-ray absorptiometry (DEXA) in 18 children (age 5.8 +/- 1.5 yr; M:F 8:10) with TM on hypertransfusion and iron chelation therapy. Serial BMD measurements were available for 11 of the 18 children. RESULTS: Weight and height z scores were 0.81 +/- 4.2 and -0.47 +/- 1.7 respectively. At the first BMD, four (22.2%) patients presented with BMD z scores less than -2.5, seven (38.8%) had BMD z scores between -1 and -2.5, while the remaining seven (38.8%) had normal BMDs (z score above -1). The mean decline of BMD z score was -0.38/year (p = ns). BMD z scores correlated with height z scores (p = 0.039), but not with liver enzymes, serum ferritin levels, or thalassemia genotypes. CONCLUSIONS: Low bone mass is present in most children with TM despite hypertransfusion and optimal chelation, adequate growth and lack of endocrine complications.

Blood Transfusion↗
PubMed1998

Seroprevalence of hepatitis B, hepatitis C, CMV and HIV in multiply transfused thalassemia patients: results from a thalassemia day care center in Malaysia.

Regular blood transfusions for patients with thalassemia have improved their overall survival although these transfusions carry a definite risk of the transmission of certain viruses. Infection with hepatitis B virus (HBV), hepatitis C virus (HCV), cytomegalovirus (CMV) and human immunodeficiency virus (HIV) leads to complications which contribute to the morbidity and mortality of patients with thalassemia. We analyzed the blood samples taken from 85 transfusion dependent thalassemics receiving treatment at the day care center in Hospital Universiti Kebangsaan Malaysia and found that the seroprevalence rates for HBV, HCV and CMV were 2.4%, 22.4% and 91.8% respectively. None of the patients tested positive for HIV. Those positive for HBV and HCV will require further tests and treatment if chronic hepatitis is confirmed.

Adolescent↗
PubMed2001

Linear growth in homozygous beta-thalassemia and beta-thalassemia/hemoglobin E patients under different treatment regimens.

The effects on linear growth and development among thalassemic patients under different treatment regimens were compared. Twelve homozygous beta-thalassemia (homozygous beta-thal) and 36 beta-thalassemia/Hb E (beta-thal/Hb E) were studied longitudinally between 1977 and 1998. Eighteen cases (10 homozygous beta-thal and 8 beta-thal/Hb E) received hypertransfusion with iron chelation by desferrioxamine. Another 30 cases (2 homozygous beta-thal and 28 beta-thal/Hb E) were given a low transfusion (depending on their clinical requirement). Their heights were measured serially and are presented as a standard deviation score (SDS). There was no significant difference in initial basic hematological data and ferritin levels between either group. However, the hypertransfused group, seemed to be clinically more severely affected than the other group as evidenced by early age at initial transfusion, the early onset of anemia and diagnosis and also their large acquired iron load after a period of transfusion. The average height SDS of the hypertransfused patients was within the 50th percentile +/- 1 SD during the first decade of life in both sexes and both genotypes. Whereas, in patients who were transfused infrequently, the SDS was always below the -1 SD and decreased gradually. In severe beta-thal/Hb E cases, their growth SDS showed no difference from those with homozygous beta-thal. Normal linear growth in those with homozygous beta thal and severe beta-thal/Hb E was only seen in the group that underwent hypertransfusion and this regimen contributed to normal growth during the first ten years of life. However, adequate iron chelation and hormonal treatment in these patients were also required in order to achieve normal adult height.

Blood Transfusion↗
PubMed1992

Thalassemia in the outpatient department of the Yangon Children's Hospital in Myanmar: cost analysis of the day-care-room services for thalassemia.

A cost analysis study for the fiscal year 1989-1990 was conducted in the day care room (DCR) for thalassemia patients at the Yangon Children's Hospital in Myanmar to provide a basis for future cost-effectiveness, cost-benefit and efficiency analyses. Two types of costs, hospital costs and costs borne by the patients' families were studied by reviewing hospital records and by interviewing family members of patients. Of the total cost of DCR services for thalassemia 74 to 75% was contributed by material costs most of which were for imported items. The cost of each transfusion visit and the annual cost per patient were Kyats 166.5 to 173.3 and Kyats 1,108.6 to 1,208.7, respectively. The median cost (range) per treatment visit and the averaged annual median cost (range) borne by the patients' families were Kyats 21 (0-302) and Kyats 107 (0-1,509), respectively.

Ambulatory Care↗