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PubMed1983

A new family with beta-thalassemia intermedia.

In a Japanese family several members in three generations had, on hemoglobin analysis, typical findings of heterozygous beta-thalassemia. However, hemoglobin concentrations, red cell morphology, splenic size and clinical histories indicated that the disorder was more severe than in the usual beta-thalassemia trait. From the previous and the present studies folic acid supplements appeared to be beneficial in ameliorating the anemia. The findings may provide an apparent pathophysiologic and genetic explanations for the more severe anemia and red-cell abnormalities present in a small proportion of families with beta-thalassemia trait.

Hemoglobins↗
PubMed1999

MR imaging of pancreatic changes in patients with transfusion-dependent beta-thalassemia major.

OBJECTIVE: The aim of this study was to evaluate MR imaging changes of the pancreas in patients with transfusion-dependent beta-thalassemia major. SUBJECTS AND METHODS: Twenty patients with transfusion-dependent beta-thalassemia major were examined using MR imaging at 0.5 T, with spin-echo T1-weighted, fast spin-echo T2-weighted, and gradient-echo T2*-weighted sequences. Image analysis was performed to assess pancreas-to-fat signal intensity ratios for all pulse sequences. Pancreatic exocrine and endocrine function and serum ferritin levels were assessed. Twenty healthy volunteers underwent MR imaging with the same three sequences and served as a control group. RESULTS: The pancreas-to-fat signal intensity ratio was significantly decreased in 17 (85%) of the 20 patients on spin-echo T1-weighted images (p < .05), fast spin-echo T2-weighted images (p < .01), and gradient-echo T2*-weighted images (p < .01) when compared with the 20 volunteers in the control group. The pancreas-to-fat signal intensity ratio was significantly increased in three (15%) of the 20 patients on spin-echo T1-weighted images (p < .01) and fast spin-echo T2-weighted images (p < .05). In addition, in the 20 patients, we found a significant correlation between increased pancreas-to-fat signal intensity ratios and decreased serum trypsin levels (r = -.77, p < .01 for spin-echo T1-weighted sequences; r = -.75, p < .05 for fast spin-echo T2-weighted sequences; and r = -.74, p < .05 for gradient-echo T2*-weighted sequences). Likewise, for the 20 patients, we found a significant correlation between decreased pancreas-to-fat signal intensity ratios and increased serum ferritin levels for gradient-echo T2*-weighted images (r = -.65, p < .01). No correlation was found for the other clinical parameters evaluated. CONCLUSION: MR imaging revealed signal intensity changes in the pancreas of patients with transfusion-dependent beta-thalassemia major. Patients with a major impairment of the exocrine pancreatic function had higher signal intensity of the pancreas because of fatty replacement of the parenchyma.

Adolescent↗
PubMed2000

T2 relaxation rate as an index of pituitary iron overload in patients with beta-thalassemia major.

OBJECTIVE: In transfusion-dependent ss-thalassemia major, increased iron deposition in the pituitary gland has a cytotoxic effect, leading mainly to hypogonadotropic hypogonadism. Early detection and quantification of iron in the pituitary gland are of particular importance for successful treatment. The purpose of this study was to evaluate the T2 relaxation rate (1/T2) as a marker of pituitary siderosis. SUBJECTS AND METHODS: In 29 patients with ss-thalassemia major and 40 controls, we assessed the 1/T2 of the pituitary gland in a 1.5-T MR unit, using a multiecho spin-echo sequence. In all patients, an extensive endocrine evaluation was performed, including measurements of spontaneous and stimulated levels of gonadotropins, thyroid hormones, growth hormone, insulinlike growth factor, and adrenal hormones. RESULTS: A positive correlation was found between the 1/T2 and the serum ferritin level (r = 0.73, p < 0.001). The 1/T2 was higher in patients (mean, 0.020 msec(-1); SD, 0.006) compared with that of controls (mean, 0.011 msec(-1); SD, 0.001; p < 0.001). The 1/T2 was higher in patients with hypogonadotropic hypogonadism (mean, 0.024 msec(-1); SD, 0.006) in comparison with that of patients without any pituitary dysfunction (mean, 0.017 msec(-1); SD, 0.004; p < 0.05). CONCLUSION: The T2 relaxation rate could be used as an index of pituitary iron overload, and it might be of value to monitor treatment with deferoxamine in patients with ss-thalassemia major.

Adult↗
PubMed2004

Radiographic and MRI features of deferiprone-related arthropathy of the knees in patients with beta-thalassemia.

OBJECTIVE: This study was undertaken to describe the radiographic and MRI appearances of arthropathy of the knees in 14 patients with beta-thalassemia major undergoing chelation therapy with deferiprone (L1). MATERIALS AND METHODS: All available radiographs and MRI studies of the knees in 14 beta-thalassemia major patients (mean age, 16.3 years; age range, 7-33 years) undergoing chelation therapy with L1 were retrospectively assessed for changes in the synovium, cartilage, and bone. Imaging findings and signs of knee arthropathy were correlated with chelation therapy and average serum ferritin concentration. RESULTS: Nine (64%) of the 14 patients developed arthralgia of the knees during treatment with L1. Abnormal imaging findings were present in all symptomatic and two asymptomatic patients (12/14, 86%) and included joint effusion, subchondral bone irregularity, and patellar beaks. Additional MRI findings were thickening and enhancement of the synovium; hypointense bands in the synovium; irregularly thickened epiphyseal and articular cartilage overlying subchondral bone defects; and, on T2-weighted sequences, hyperintense articular cartilage lesions. The degree of knee symptoms at the time of imaging did not reflect the severity of cartilage and subchondral bone changes. CONCLUSION: Radiologic changes can be seen in L1-related arthropathy and should be recognized. MRI of the knees should be considered in symptomatic children and young adults with thalassemia undergoing L1 chelation therapy for iron overload.

Adolescent↗
PubMed2005

Abdominal lymphadenopathy in beta-thalassemia: MRI features and correlation with liver iron overload and posttransfusion chronic hepatitis C.

OBJECTIVE: The objective of our study was to describe the MRI features of abdominal lymphadenopathy in patients with beta-thalassemia major and investigate the relation of abdominal lymphadenopathy with the severity of iron overload and posttransfusion chronic hepatitis C. MATERIALS AND METHODS: Abdominal MRI studies of 60 consecutive patients with beta-thalassemia major, performed for quantification of liver iron overload at a single institution, were retrospectively studied for the presence of lymph nodes and their distribution, size, and number. The signal intensity ratios of liver, spleen, and the largest lymph node to the right paraspinous muscle (L/M, S/M, and LN/M, respectively) were calculated on T1-weighted gradient-echo images. MRI findings for the lymph nodes were compared with the histologically assigned activity level of chronic hepatitis C that was available in 17 patients who had undergone liver biopsy within 1 month of the MRI examination. RESULTS: Hypointense abdominal lymph nodes larger than 7 mm were seen in 19 (32%) of 60 thalassemic patients in perihepatic and paraortic distributions. Lymphadenopathy was related to both the severity of hepatic siderosis, as expressed by the L/M values, and the presence of chronic hepatitis C, given that 18 (95%) of the 19 thalassemic patients with lymphadenopathy had chronic hepatitis C. Moreover, thalassemic patients with a moderate or severe level of hepatic inflammation presented with abdominal lymphadenopathy more frequently than those with mild hepatic inflammation. CONCLUSION: The development of hypointense abdominal lymphadenopathy in patients with beta-thalassemia major who have received multiple transfusions depends both on the severity of liver iron overload and on the presence and the activity level of coexistent chronic hepatitis C.

Abdomen↗
PubMedDate not supplied

[Plastic bronchitis in a child with thalassemia alpha].

OBJECTIVE: Plastic bronchitis is an unusual condition in children, associated with formation of mucofibrinous casts and mucous plugging of the tracheobronchial tree. Given that this illness is part of the differential diagnosis of acute respiratory failure, early treatment is important for improved prognosis. The aim of this report is to describe a case of plastic bronchitis in a child with alpha-thalassemia that was treated successfully with endoscopy. DESCRIPTION: A three year old, black, male child, previously healthy, presented with acute respiratory failure and a chest x-ray showing pulmonary atelectasis. There was no evidence of respiratory symptoms or previous allergy state. The diagnosis of plastic bronchitis was made using flexible and rigid bronchoscopy, and confirmed by histopathologic findings. The child progressed well, treatment was based on supportive care and antibiotics were not used. Ten days after discharge, radiographic appearance was normal. Alpha thalassemia was diagnosed through hemoglobin electrophoresis. COMMENTS: Plastic bronchitis is clinically important because has similar presentation to other prevalent diseases, such as foreign body aspiration and asthma. When plastic bronchitis is suspected, endoscopy is indicated in order to confirm diagnosis and define treatment. Plastic bronchitis has been previously described in patients with cystic fibrosis, cardiac surgery and sickle cell disease. In this case, an association with alpha-thalassemia was observed.

Bronchitis↗
PubMed1984

Diagnosis of alpha thalassemia in the newborn. Cord blood survey utilizing gene mapping.

Application of the technique of gene mapping has made possible accurate assessment of the alpha thalassemia defect in cord blood samples obtained in a Sydney teaching hospital. Results showed a 5.2% incidence of the alpha+ thalassemia haplotype in the population being tested. Various hematological parameters such as hemoglobin, mean corpuscular hemoglobin, hemoglobin EPG pattern at pH 8.9 and the percentage of hemoglobin Bart's determined by elution at pH 6.7 were measured to assess which would be the most useful in diagnosis of alpha thalassemia at this time of life. The most consistent test proved to be hemoglobin EPG pattern at pH 8.9, and reasons for this are discussed.

Chromosome Mapping↗
PubMed2000

Molecular analysis of turkish beta-thalassemia heterozygotes with normal Hb A2 levels.

Four parents of three unrelated families who are obligatory beta-thalassemia heterozygotes and two parents with Hb Knossos are presented. In these subjects, although the red blood cell counts and red cell indices were compatible with beta-thalassemia trait, the Hb A2 values were between 1.9-2.9% of the total hemoglobin. Examination of the delta-globin gene by Southern blot, restriction endonuclease analysis, and by direct sequencing of amplified DNA revealed the presence of the (delta0) -7.2 kb Corfu type deletion, the (delta+) codon 27 (G-->T) and (delta0) IVS-I-2 (T-->C) mutations in trans or in cis with a severe beta-thalassemia allele, and the (delta0) codon 59 (-A) deletion in cis with the betaKnossos allele.

Adult↗
PubMed2000

Beta-thalassemia intermedia associated with homozygosity for the -87 (C-->T) mutation in a Turkish family.

We report on two siblings with beta+-thalassemia intermedia. Molecular studies of the beta-globin gene indicated that the patients are homozygous for the -87 (C-->T) mutation. This genotype has not been previously described. Homozygosity for the -87 (C-->T) mutation produces a mild form of beta+-thalassemia associated with moderate Hb F elevation (26-38%) and highly elevated Hb A2 (10-8.6%) levels, respectively. Hematological parameters of homozygous -87 (C-->G) and -87 (C-->A) mutations, and compound heterozygous patients with either C-->T, C-->G, or C-->A at -87 and one of the severe beta+- or beta0-thalassemia mutations, are given for comparison.

Adult↗
PubMed2000

Geographic and ethnic distribution of beta-thalassemia mutations in Uttar Pradesh, India.

We have studied the geographic and ethnic distribution of mutations in 376 subjects who were carriers of beta-thalassemia, and identified the mutations in 365 chromosomes. The majority of the beta-thalassemia carriers were of Uttar Pradesh (India) origin. Their pattern of mutations differed from the other states of India and from those families who had migrated from Pakistan. The frequency of the IVS-I-5 (G-->C) and 619 bp deletion mutations were 64.3 and 2.5%, respectively, among families originating from Uttar Pradesh, compared to a prevalence of 37.5 and 27.5%, respectively in the population of Pakistani immigrants. Of the 10 common Asian Indian mutations, only eight were observed in subjects studied from different parts of India. By use of the amplification refractory mutation system along with DNA sequencing techniques, the mutations were successfully identified in 97.1% of subjects, while 11 cases (2.9%) still remain to be characterized by single strand conformation polymorphism and sequencing analyses. The application of this knowledge has facilitated the successful implementation of the program of genetic counseling and prenatal diagnosis of beta-thalassemia, thus helping to avoid the birth of an affected child in India.

DNA Mutational Analysis↗
PubMed1977

The molecular defects of alpha-thalassemia in the Filipino.

Molecular hybridization with synthetic radioactive DNA (cDNA) complementry to alpha globin mRNA sequences shows that, as in most other Southeast Asian populations, the alpha globin structural genes are deleted in Filipinos affected by the alpha-thalassemia syndromes. Thus, all 4 alpha-globin structural genes are deleted in homozygous alpha-thalassemia with hydrops fetalis, 3 and 2 structural genes are deleted in hemoglobin H disease and alpha-thalassemia-1 respectively.

DNA↗
PubMed1981

Isoelectric focusing of globin chains for antenatal diagnosis of beta 0-thalassemia.

A recently developed isoelectric focusing technique for human globin chain separation has been applied to the antenatal diagnosis of beta 0-thalassemia in Sardinia. Results obtained with this method show a complete concordance with those obtained by the currently-in-use chromatographic separation of globin chains by carboxymethyl-cellulose. The ease with which several samples (up to 20) can be simultaneously processed and analyzed by a single operator and the very simple equipment required make this new method ideal for the antenatal diagnosis of beta 0-thalassemia and could encourage a more widespread use of prenatal diagnosis of thalassemias.

Anemia, Sickle Cell↗
PubMed1982

Influence of two alpha-globin gene deletions on homozygous beta 0-thalassemia.

The favorable influence of alpha-thalassemia due to a deletion of two alpha-globin genes (alpha-thal-l) on homozygous beta 0-thalassemia in an adult Chinese woman is described. Her clinical and hematologic condition was milder than usually seen in homozygous beta 0-thalassemia. With the help of repeated blood transfusions immediately before delivery she gave birth to a physically healthy baby who had the alpha-thal-l trait due to two alpha-globin gene deletions with Hb Bart's in the cord blood.

Adult↗
PubMed1984

Hemoglobin constitution of double heterozygotes for alpha or beta-thalassemia and Hb J Sardegna.

In this study, we carried out alpha-globin gene mapping in 12 heterozygotes for Hb J Sardegna and in 5 double heterozygotes for this variant and beta-thalassemia. Then, we correlated the Hb pattern with the alpha and beta-globin genotype. In heterozygotes for Hb J Sardegna with a deletion of a single alpha-globin gene (alpha alpha/-alpha) the amount of the abnormal Hb was significantly (p much less than 0.001) higher than in heterozygotes for this variant with a full complement of 4 alpha-globin structural genes (27.5% versus 20.4%). Double heterozygotes for the abnormal hemoglobin and beta-thalassemia with a full complement of 4 alpha-globin structural genes tended to have lower amount of the abnormal Hb than heterozygotes for this variant who do not have beta-thalassemia.

Chromosome Mapping↗
PubMed1985

Compound heterozygosity for two genotypes of alpha-thalassemia-2: hematological, biosynthetic and DNA studies.

Hemoglobin and DNA gene analyses were carried out in two Black Canadian families. In Family Q, both the parents and the brother were found to be heterozygotes for alpha-thalassemia-2 with the following alpha-genotypes: -alpha 3.7/alpha alpha, -alpha 4.2/alpha alpha and -alpha 4.2/alpha alpha, respectively. In Family C, the mother was found to be a homozygote for alpha-thalassemia-2 with the alpha-genotype of -alpha 3.7/-alpha 3.7. In both families, the propositi were compound heterozygotes for alpha-thalassemia-2 with the alpha-genotype of -alpha 3.7/-alpha 4.2. The propositus in Family C was also a sickle cell trait carrier. The usefulness of DNA gene analyses in family studies of hemoglobinopathy was discussed.

Adult↗
PubMed1987

Distribution of hemoglobin E and beta-thalassemia in Kampuchea (Cambodia).

The hemoglobin type of 360 adult Cambodian subjects was determined by cellulose acetate electrophoresis and microcolumn chromatography. The following distributions and frequencies of the Hb E (beta E) and the beta-thalassemia (beta-thal) genes were found: in a group of 264 Cambodians of rural areas 153 Hb A, 83 Hb AE, 19 Hb E, and nine beta-thalassemia minor (frequency beta E 0.2292, beta-thal 0.0170). In an urban group from the capital Phnom Penh there were 68 Hb A, 21 Hb AE, four Hb E, and three beta-thalassemia minor (frequency beta E 0.1510, beta-thal 0.0156). The low frequency of beta E in the urban group is probably due to Chinese admixture. Possible causes of the observed deficiency of Hb AE heterozygotes in comparison with Hardy-Weinberg equilibrium are discussed.

Adult↗
PubMed1988

Alpha-thalassemia in Thailand.

The alpha-thalassemia syndromes are remarkable both for their phenotypic diversity and for their different clinical severity. They are associated with variable degrees of alpha-chain deficits; the clinical manifestations range from asymptomatic cases with normal hematologic findings to the totally lethal Hb Bart's hydrops fetalis syndrome. Recent molecular biology studies have clarified the defects in these alpha-thalassemia syndromes around the world. This paper describes the alpha-thalassemias in Thailand, and covers the types, molecular defects, incidence of each genotype, and their phenotypic expression.

Fetal Blood↗
PubMed1988

Bone marrow transplantation in beta-thalassemia major. The Israeli experience.

The present report summarizes our experience in applying a new approach in bone marrow transplantation for the treatment of beta-thalassemia major. Ex-vivo pretransplant T-lymphocyte depletion with CAMPATH-1 was used for prevention of acute and chronic graft versus host disease and total lymphoid irradiation was added for the conditioning regimen for abrogation of potential rejection of T-cell depleted marrow allografts. Ten patients with homozygous beta-thalassemia major were 9-48 months of age (median 18.5 months) and received HLA-identical allogeneic T-cell depleted marrow after treatment with total lymphoid irradiation, busulfan and cyclophosphamide. Seven patients are alive and free of disease, 3-46 months post-transplantation. The actuarial probability of survival and of disease-free survival at two years was 70%. Three patients died: one of intracranial hemorrhage post-transplantation, one from busulfan interstitial pneumonitis, and one who rejected the first graft and developed fatal chronic graft versus host disease after a second transplant. Seven patients are alive and well with follow-up of 3-45 months, with no signs of acute or chronic GVHD. We conclude that T-cell depleted bone marrow transplantation is indicated for homozygous transfusion dependent young patients with beta-thalassemia who are minimally transfused, particularly in areas where optimal conventional therapy is not feasible.

Bone Marrow Transplantation↗