1/430. 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. ( info) |
2/430. Wilson's disease with concomitant beta thalassaemia and factor v deficiency. A case of late presentation of Wilson's disease in a female with a thalassaemic trait is reported in whom diagnosis of factor v deficiency was made. Despite ignoring the disease for years the patient had compensated cirrhosis. She had a dramatic family history of Wilson's disease affecting at least two brothers and two sisters. Moreover, her haematologic problems were not clinically revealed until diagnosis had been made on the basis of suspicions arising from laboratory results. The therapy of choice for hepatolenticular degeneration was not feasible due to the patient's refusal. zinc salts were, therefore, administered. To our knowledge the association of such rare genetic disorders has not been reported. ( info) |
3/430. Long-term follow-up of skeletal dysplasia in thalassaemia major. We report skeletal changes due to deferoxamine (DF) in 15/29 patients with transfusion-dependent thalassaemia major (TM), followed longitudinally for growth assessment. Clinically the earliest signs were decline in height and/or sitting height growth rate, leg and back pain with restricted movement and limb deformity. Radiologically metaphyseal and spinal changes were seen in 5 subjects and vertebral lesions alone in 10. The metaphyseal changes were mild, moderate or severe and affected all long bones, but were most pronounced at wrists and knees. They progressed from widening of the growth plate and defects of metaphyseal margins to appearance of radiolucent pseudocystic areas and, in severe cases, of cupped, rickets-like metaphyses. The spinal changes proceeded from osseous defects of ventral upper and lower edges of vertebrae and biconvex contours of end-plates to platyspondyly with decreased vertebral body height. After DF dose reduction, metaphyseal changes regressed in 2 patients, while they progressed in 3, requiring corrective surgery for severe valgus knee. Spinal abnormalities either remained unchanged or progressed. Final height was very short in patients with spondylometaphyseal lesions, short and disproportionate in patients with only spinal involvement. ( info) |
4/430. 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. ( info) |
5/430. 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. ( info) |
6/430. 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. ( info) |
7/430. 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. ( info) |
8/430. 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. ( info) |
9/430. Allogeneic bone marrow transplantation of chronic myeloid leukemia from an HLA-matched unrelated donor with the beta-thalassemic trait. We report a chronic myeloid leukemia patient who underwent allogeneic bone marrow transplantation from an HLA-matched unrelated donor with the beta-thalassemic trait. The donor was a heterozygote for the -28 A-->G mutation. We examined the recipient's bone marrow and peripheral blood using the polymerase chain reaction (PCR) method to detect the -28 G-->A mutation of the donor type and monitored the sustained engraftment. This case suggests that a donor with the thalassemic trait can be a candidate for matched unrelated bone marrow transplantation for hematological malignancies and that PCR based genetic examination of the thalassemic mutation is a useful tool to detect early engraftment. ( info) |
10/430. 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. ( info) |