Hemothorax due to extramedullary erythropoietic masses

We describe a 27-year-old male patient suffering from beta-thalassemia intermedia who presented with a nontraumatic spontaneous hemothorax due to extramedullary hemopoietic foci. In reviewing the literature, four similar reports were found. The details of this unusual entity are discussed

RANDOMIZED CLINICAL-TRIAL COMPARING CEFTRIAXONE AMIKACIN VERSUS CEFTAZIDIME AMIKACIN AS INITIAL THERAPY OF FEBRILE EPISODES IN NEUTROPENIC PATIENTS

Neutropenic patients with underlying hematologic (usually malignant) diseases were randomized to receive either 2 g ceftriaxone once daily + 0.5 g amikacin or 2 g ceftazidime twice daily + 0.5 g amikacin b.i.d. when fever was higher than 38-degrees-C and granulocyte counts less than 0.5 x 10(9)/l. 25 patients were included in each treatment group. Successful outcome of treatment was observed in 28 (13/15) and in an additional 5 (2/3) patients after modification of the therapy. Tolerability was excellent in both groups

Analysis of the A(TA)(n)TAA configuration in the promoter region of the UGT1 A1 gene in Greek patients with thalassemia intermedia and sickle cell disease

Gilbert’s syndrome is characterized by mild unconjugated hyperbilirubinemia. The molecular basis of this syndrome usually concerns an additional dinucleotide insertion (TA) in the A(TA)(n)TAA configuration residing in the promoter region of the UGT1 A1 gene. This configuration may vary in length; the “n” represents the different number of TA repeats. The homozygosity A(TA)(7)TAA/A(TA)(7)TAA is involved in Gilbert’s syndrome. In many cases of patients with thalassemia intermedia and sickle cell disease considerable variation in bilirubin levels is observed. In this study we investigated the contribution of the A(TA)(7)TAA/A(TA)(7)TAA genotype in the variable unconjugated serum bilirubin levels in 31 Greek patients with thalassemia intermedia and 27 Greek compound heterozygotes for beta thalassemia and sickle cell anemia. Analysis of the A(TA)(n)TAA configuration in the promoter region of the latter patients showed that those who were carrying the homozygosity A(TA)(7)TAA/A(TA)(7)TAA had higher levels of unconjugated bilirubin. These findings suggest that the coexistence of Gilbert’s syndrome in patients with thalassemia intermedia and sickle cell disease may be the cause of the elevated values of unconjugated bilirubin, reducing the possibility of excessive hemolysis in these patients. (C) 2003 Elsevier Science (USA). All rights reserved

Multiple myeloma in sickle cell syndromes

Multiple myeloma (MM) is rare among patients with sickle cell syndromes (SCS). We describe six Greek sickle cell patients aged 56 to 65 years: five haemoglobin S beta (+)thalassaemia (HbS beta (+)thal), one sickle cell anaemia (HbSS), who developed MM (three IgGK, one IgG lambda, one IgAK, and one IgGK-IgAK (biclonal). Our HbS beta (+)thal cases, represent the first reported association of this entity with MM. Generalized bleeding diathesis, stroke, grand mal seizures, bone marrow necrosis and other clinical manifestations due to hyperviscosity aggravated by sickle cell vasoocclusion were treated by plasmaphereses and exchange blood transfusions. The increase of mean survival in SCS patients due to the current medical facilities may have an impact on the incidence of MM among them, if a pathogenetic link between the two conditions exists. All our patients carried a diagnosis of cholelithiasis which may predispose to MM; two of them progressed from a monoclonal gammopathy of undetermined significance (MGUS) to MM. Further studies are needed in order to understand the relationship between SCS and MM

ANGIOID STREAKS IN SICKLE-THALASSEMIA

Angioid streaks have been described in a diverse group of diseases including hemoglobinopathies such as sickle cell anemia and beta-thalassemia. We investigated the prevalence of angioid streaks and pseudoxanthoma elasticum in the rare situation of patients who had compound heterozygous traits for hemoglobin S and beta-thalassemia. We examined 58 consecutive patients with sickle-thalassemia. Of these, 25 were men and 33 were women, and they ranged in age from 19 to 58 years (mean, 32.6 years). Angioid streaks were identified in six of 58 patients (10%), and of these three also displayed the cutaneous lesions of pseudoxanthoma elasticum, which were confirmed by skin biopsy. An expanded study on several relatives of the patients with angioid streaks failed to identify any similar cases. Statistical evaluation of the main hematologic and biochemical parameters in the patients with and without angioid streaks did not demonstrate any significant differences, except that the thalassemic component in all six patients with angioid streaks was beta degrees (that is, did not allow the synthesis of hemoglobin A). We conclude that angioid streaks and pseudoxanthoma elasticum skin lesions occur with an increased frequency in patients with sickle-thalassemia

Unstable angina associated with coronary arterial calcification in a thalassemia intermedia patient with a pseudoxanthoma elasticum-like syndrome

The coexistence of a pseudoxanthoma elasticum (PXE)-like syndrome in beta-thalassemia and other hemoglobinopathies is a recently established clinical entity that has been observed with a significant frequency and related to some severe, even life-threatening complications. We present here a thalassemia intermedia patient who developed unstable angina in a setting of severe anemia and PXE-related coronary arterial calcification. Besides the clinical significance of this PXE-like syndrome, its acquired nature may introduce some new thoughts regarding the pathogenesis of atherosclerosis

Iron stores in multi-transfused thalassaemic patients seem not to be influenced by the HLA system

The HLA-A and -B antigens of 99 Greek patients with transfusion dependent homozygous beta thalassaemia were determined. The HLA antigen distribution in thalassaemic patients with a severe transfusion siderosis and in patients without signs of siderosis were compared to that of 400 healthy unrelated controls from the same population. There is an increase of HLA-B14 antigen in both groups of thalassaemics as compared with the controls. No significant difference exists in the distribution of all the other HLA antigens between the two sub-groups of thalassaemics or with the controls