1/7. An unusual anterior mediastinal mass in a child with B-thalassemia major.This case report describes the delayed appearance of Morgagni's hernia in a 5 year old child with B-thalassemia major to present as an anterior mediastinal mass. The progressive enlargement of the liver resulted in herniation of the left lobe of the liver through the already congenitally present Morgagni's hernia leading to its enlargement. The report also emphasizes the fact that a previously normal chest x-ray should not preclude the diagnosis of Morgagni's hernia. Morgagni's hernia should also be included in the differential diagnosis of anterior mediastinal masses in children.- - - - - - - - - - ranking = 1keywords = thalassemia (Clic here for more details about this article) |
2/7. Use of hydroxyurea and recombinant erythropoietin in management of homozygous beta0 thalassemia.This report describes the sustained response of an Iranian girl with homozygous beta(0) thalassemia (IVS-II-1G-->A) to hydroxyurea (HU) and recombinant erythropoietin (rEPO). Since the start of this regimen 7 years ago, she has been transfusion-independent and her hemoglobin is maintained between 9.5-11.0 gm/dL. She is maintaining consistent growth around the 10th percentile for age and enjoys a good quality of life. She has not had any therapy-related adverse effects. This experience suggests that therapy with HU and rEPO may be useful long-term in some patients with beta thalassemia.- - - - - - - - - - ranking = 1.5keywords = thalassemia (Clic here for more details about this article) |
3/7. An interesting presentation of intrathoracic extramedullary hematopoiesis in a patient with thalassemia intermedia.Extramedullary hematopoiesis (EMH) occurs as a compensatory mechanism for bone marrow dysfunction in severe thalassemia. In addition to the more common locations, such as liver, spleen and lymph nodes, a mass of EMH may occasionally occur in the thorax. Intrathoracic EMH is usually asymptomatic. A 69-year-old woman who initially presented with hematuria, dysuria, and left inguinal pain was found to have paravertebral masses in the thorax. Histopathologic examination of a CT-guided needle aspiration biopsy of the masses showed the presence of trilineage hematopoiesis. We present this unusual case, in which EMH was diagnosed by chance in an elderly patient with no symptoms related to thalassemia.- - - - - - - - - - ranking = 1.5keywords = thalassemia (Clic here for more details about this article) |
4/7. Acute splenic sequestration crisis in sickle cell disease: early detection and treatment.Acute splenic sequestration crisis (ASSC) in children with various forms of sickle cell disease can result in life-threatening circulatory collapse due to the loss of circulating blood volume. Over a 6-year period we have treated 12 patients ranging in age from 5 1/2 months to 7 years presenting with acute sequestration crisis. Eleven had homozygous sickle cell disease and the other had sickle-thalassemia. One patient died of acute circulatory collapse. Eight patients underwent splenectomy after a major episode of sequestration with no serious infectious complications up to 5 years following splenectomy. Three patients with minor episodes have been followed with no recurrences. To foster early detection of this potentially lethal complication of sickle cell disease, an educational program in our Comprehensive Sickle Cell Center instructs the parents to examine the spleen and bring their child in for evaluation if the spleen enlarges. A newly developed videotape describes the common symptoms of ASSC and illustrates the technique of palpating the spleen. With early detection of sickle cell disease by neonatal screening and the educational program, the morbidity and mortality from this complication of sickle cell disease can be reduced.- - - - - - - - - - ranking = 0.25keywords = thalassemia (Clic here for more details about this article) |
5/7. Hb Leiden-beta (0) thalassemia in a Chinese with severe hemolytic anemia.The first case of Hb Leiden (alpha2beta2 6 or 7 Glu |
O)-beta (0) thalassemia in a young patient with chronic severe hemolytic anemia, which improved after splenectomy, is described. His parents were Chinese. The patient's blood showed no Hb A or normal beta chains when no blood transfusion was given. His mother was heterozygous for beta(0) thalassemia, and his father and brother had a trait for the unstable Hb Leiden. The Hb Leiden level of the father was 22.6% and that of the brother was 19.3%. It is probable that the abnormal hemoglobin in this Chinese family resulted from an independent gene mutation, unrelated to the one found in 2 Caucasian families reported earlier. |
6/7. Unusual bone marrow hyperplasia in a case of thalassemia intermedia.A case of beta thalassemia intermedia is described. Beside the typical hematologic picture and extramedullary erythropoiesis in the liver always present in such a clinical form, atypical masses due to foci of erythropoiesis were found at paravertebral, parasternal and subcostal sites. The size of these masses caused problems in differential diagnosis; they have been solved by computerized axial tomography.- - - - - - - - - - ranking = 1.25keywords = thalassemia (Clic here for more details about this article) |
7/7. Three cases of hemoglobin O Arab.Three new cases of Hb 0 Arab in two families are reported from districts of bulgaria, where a carrier state of this abnormal hemoglobin has not been established so far. One of the propositi is a double heterozygote for Hb 0 Ar/beta(0)-thalassemia. His father is a simple heterozygote for Hb 0 Ar with clear-cut cytomorphological stigmata, indicating hemoglobinosis. The second propositus, according to clinical and laboratory data is also a double heterozygote for Hb 0 Ar and beta(0)-thalassemia. The carriers investigated are of Bulgarian nationality. Their territorial origin supportsthe thesis that the gene mutation for Hb 0 Arab most probably has taken place out of the present boundaries of bulgaria.- - - - - - - - - - ranking = 0.5keywords = thalassemia (Clic here for more details about this article) |