1/290. Splenic calcifications in heterozygote sickle cell patients.A small, fibrotic, and even calcified spleen is the hallmark of homozygote sickle cell disease in adults. Such a condition is very rare in sickle-thalassemia and, to our knowledge, not previously reported in a sickle cell trait. We report two heterozygote sickle cell siblings with splenic calcifications, one sickle cell trait and one sickle-beta -thalassemia, without any history suggestive of splenic vasooclusive-infarctive crisis.- - - - - - - - - - ranking = 1keywords = thalassemia (Clic here for more details about this article) |
2/290. Thrombotic risk in thalassemic patients.Hemostatic parameters of 495 beta-thalassemic patients (421 with thalassemia major and 74 with thalassemia intermedia) were analyzed, to assess their association with the described thrombophilic condition and to verify the role of additional risk factors (e.g. persistent postsplenectomy thrombocytosis, insulin dependent diabetes mellitus, estrogen-progestin treatment and atrial fibrillation). The prevalence of thromboembolic accidents was 5.2% and in four patients (15.3%) inherited or acquired predisposing defects were recognized. The incidence of thromboembolic events and the associated relative risk due to hemocoagulative abnormalities in these patients are discussed.- - - - - - - - - - ranking = 1keywords = thalassemia (Clic here for more details about this article) |
3/290. Pituitary deficiency and lack of gonads in an XY pseudohermaphrodite with beta 39/lepore haemoglobinopathy.We describe the occurrence of hypothyroidism and hypogonadotropic hypogonadism in an XY pseudohermaphrodite subject affected by beta-thalassemia. The patient, reared as female, diagnosed at 14 months of age as having a beta 39/Lepore hemoglobinopathy, treated with multiple transfusion therapy, was referred at age of 15 years because of delayed puberty. Complete endocrine evaluation showed low levels, both basal and after combined LHRH-TRH and hCG stimuli, of FSH, LH, TSH, estradiol (E2), testosterone (T), progesterone (P), androstenedione (A), and FT4 levels, and normal PRL, cortisol, 17OHP and ACTH levels. Imaging studies (ultrasound, magnetic resonance, radioisotope scanning and gonadal vessels phlebography) did not show internal genitalia and gonads. karyotype resulted 46,XY. PCR amplification of the SRY gene confirmed the presence of the y chromosome. female genitalia without uterus in a subject with y chromosome SRY gene, and no detectable testes indicate a condition of male pseudohermaphroditism associated with testicular regression. Low gonadotropin and sex steroid levels are suggestive of combined acquired hypothalamic-pituitary and gonadal impairment, due to iron deposition in both organs. We cannot exclude congenital failure of testosterone synthesis and action in this case, because lack of gonads is an unusual finding in thalassemic hypogonadic subjects.- - - - - - - - - - ranking = 0.5keywords = thalassemia (Clic here for more details about this article) |
4/290. ARDS in a patient with homozygous beta-thalassemia due to yersiniosis.We report a case of yersinia enterocolitica sepsis syndrome and the acute respiratory distress syndrome in a chronically transfused adolescent with beta-thalassemia. This manifestation of serious Y. enterocolitica infection has not previously been reported. dyspnea, hypoxia, and fever were the principal features of the clinical presentation. The acute onset of respiratory symptoms occurred after appendectomy. Chest radiographs revealed frontal bilateral infiltrates and alveolar consolidation to three quadrants. Y. enterocolitica was identified from blood and intraoperative appendix cultures. Although there was no need for mechanical ventilation, a remarkable persistence of clinical and X-ray findings was noted. Therapy with high levels of oxygen, and intravenous amikacin and piperacillin/tazobactam led to a favorable outcome.- - - - - - - - - - ranking = 2.5keywords = thalassemia (Clic here for more details about this article) |
5/290. Focal neurological deficits in children with beta-thalassemia major.The hematologic disorder beta-thalassemia major is relatively common in Southern italy. stroke is a well described, though infrequently reported, complication of this disorder. We now report our experience regarding 300 children with beta-thalassemia major examined at the University of Catania, italy, over a 20-year period. We encountered 9 patients (3%; 3 males, 6 females) with beta-thalassemia major who had hemorrhagic stroke. Two groups of patients can be identified: group 1 (2 patients 22%) with early-onset post-transfusion hemorrhage and group 2 (7 patients 77%) with delayed post-transfusion hemorrhage. In the first group, the hemorrhage occurred within 48 hours following blood transfusion. In the second group, hemorrhage occurred 7-15 days from last transfusion. In 5 patients out of 7 of this second group the first transfusion and ictal event both occurred after age five, suggesting prolonged chronic anemia might play a role in the hemorrhage.- - - - - - - - - - ranking = 3.5keywords = thalassemia (Clic here for more details about this article) |
6/290. Identification of the Chinese IVS-II-654 (C-->T) beta-thalassemia mutation in an immigrant Turkish family: recurrence or migration?In this study we describe the Chinese IVS-II-654 (C-->T) beta-thalassemia mutation for the first time in an immigrant Turkish family living in Istanbul and originating from Xanthe, greece. Four members of the family, representing 3 generations, are heterozygous for this mutation. A detailed family history demonstrated a Greek origin for members of 5 generations with no records of migration or consanguineous marriages. Analysis of polymorphic nucleotides located at the 5' end of the beta-globin chromosomes bearing the IVS-II-654 mutation in the family described carried the (AT)9(T)5 type of microsatellite sequence and the ACATCCCCA haplotype. These 2 haplotype components favor a non-Eastern Asian origin for this chromosome, hence suggesting an independent origin for the IVS-II-654 mutation described in this family.- - - - - - - - - - ranking = 2.5keywords = thalassemia (Clic here for more details about this article) |
7/290. Successful non-invasive ventilatory support in a patient with regimen-related toxicity during allogeneic bone marrow transplantation.A 13-year-old patient with transfusion-dependent beta thalassemia major developed acute regimen-related lung toxicity after the conditioning regimen but before allogeneic bone marrow transplantation. He was successfully managed on non-invasive ventilatory support. Advances in non-invasive ventilatory support may drastically improve the outlook of this subset of patients who otherwise have a grim prognosis.- - - - - - - - - - ranking = 0.5keywords = thalassemia (Clic here for more details about this article) |
8/290. A novel 105 basepair deletion causing beta(0)-thalassemia in members of a Thai family.We identified and characterized a novel beta(0)-thalassemia mutation due to partial deletion of the 5' end beta-globin gene including the mRNA cap site and a part of exon 1. The deletion was precisely 105 basepair (bp) in length extending from position -24 or -25 to 80 or 81 relative to the beta-globin gene mRNA cap site. This mutation was detected in three individuals from a family originating in the area of southern thailand. The propositus was a 39-year-old female and noted to be heterozygous for beta-thalassemia with hemoglobin (Hb) level of 10.1 g/dl, MCV 70 fl, MCH 23.1 pg, HbA2 6.3%, and HbF 2.4%. Her son was 9 years of age and was also heterozygous for the mutation, having Hb level of 10.8 g/dl, MCV 58 fl, MCH 19.0 pg, HbA2 5.6%, and HbF 4.3%. Her 6-year-old daughter was affected, having a genotype of this mutation and a G-C transition at IVS 1 nt 5. Although the deletion does not include the beta-globin gene promoter sequences, the individuals heterozygous for this mutation have an elevated HbA2 level slightly higher than observed in most carriers of beta-thalassemia caused by point mutations.- - - - - - - - - - ranking = 3.5keywords = thalassemia (Clic here for more details about this article) |
9/290. The beta -thalassemia mutation [IVS-II-5 (G-->C] creates an alternative splicing site in the second intervening sequence.We report a beta-thalassemia mutation [IVS-II-5 (G-->C)] in a Chinese family. Recently we cloned this beta-globin gene and studied its transient expression in murine erythroleukemia (MEL) cells. Both the thalassemic and normal beta-globin genes were isolated by polymerase chain reaction and TA-vector cloning. When the cloned beta-thalassemic globin gene was introduced into MEL cells, two kinds of spliced cytoplasmic beta-globin RNAs were detected. The predominant RNA was normally spliced, while the less abundant RNA contained an insertion of the first 47 nucleotides of the second intervening sequence localized between exons 2 and 3. These results suggest that the mutation [IVS-II-5 (G-->C)] causes a beta -thalassemia.- - - - - - - - - - ranking = 3keywords = thalassemia (Clic here for more details about this article) |
10/290. spinal cord compression in beta-thalassemia: follow-up after radiotherapy.CONTEXT: spinal cord compression due to extramedullary hematopoiesis is a well-described but rare syndrome encountered in several clinical hematologic disorders, including beta-thalassemia. CASE REPORT: We report the case of a patient with intermediate beta-thalassemia and crural paraparesis due to spinal cord compression by a paravertebral extramedullary mass. She was successfully treated with low-dose radiotherapy and transfusions. After splenectomy, she was regularly followed up for over four years without transfusion or recurrence of spinal cord compression. DISCUSSION: Extramedullary hematopoiesis should be investigated in patients with hematologic disorders and spinal cord symptoms. The rapid recognition and treatment with radiotherapy can dramatically alleviate symptoms.- - - - - - - - - - ranking = 3keywords = thalassemia (Clic here for more details about this article) |
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