1/5. beta-Thalassaemia intermedia in a Turkish girl: homozygosity for G-->A substitution at 22 relative to the beta-globin cap site.We provide the first description of a homozygote patient for the G-->A substitution in the 5' UTR of the beta-globin gene. The proband was a 17-year-old girl with beta-thalassaemia intermedia who had never received a blood transfusion. The physical examination revealed a well-developed women with no facial or bony abnormalities. There was mild paleness and mild splenomegaly which was 2 cm below the costal margin. The haemoglobin (Hb) was 7.6 g/dl, Hb A(2) 5.4% and Hb F 14.6% of the total Hb. The Hb A(2) of both parents was 3.5%. The Hb F level in the mother and father were 0.9, 1.2% and the mean cell volume (MCV) value was 70 and 72 fl respectively. dna analysis of the beta-gene region of the propositus revealed homozygosity for a G-->A substitution at nucleotide 22 relative to the beta-gene cap site, within a functional downstream region that was referred to as the DCE (downstream core element). In addition to the data obtained previously from in vitro transcription assays, clinical findings and in vivo expression studies gave some valuable clues about the effect of 22 G-->A mutation on the expression of beta-gene. Phenotypic expression of this homozygous patient is highly suggestive that G-->A substitution at nt 22 confers a relatively mild (silent) beta( )-thalassaemia phenotype.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
2/5. Acute hemolysis in association with hepatitis B infection in a child with beta-thalassemia trait.Autoimmune hemolytic anemia may occur in the course of some viral diseases such as Coxsackie virus, cytomegalovirus, Epstein Barr virus, Influenza A, herpes simplex virus, and rarely hepatitis b virus infection. The role of being heterozygous for beta-thalassemia in hemolysis during acute viral hepatitis is not known. In this report, we present an eight-year-old boy with jaundice and anemia. The diagnosis of hepatitis b virus infection and hemolytic anemia were made on the basis of physical and laboratory findings. A hemoglobin electrophoresis revealed that the child was heterozygous for beta-thalassemia. No specific etiology could be found for hemolytic anemia. It remained unclear whether hemolytic anemia in this patient was merely a coincidental finding or whether hepatitis b virus infection and beta-thalassemia trait had played a role in causing hemolysis.- - - - - - - - - - ranking = 0.062177394926567keywords = physical (Clic here for more details about this article) |
3/5. Human herpesvirus-6 associated hemophagocytic syndrome in beta-thalassemia: report of one case.An 8-month-old male infant with severe anemia and thrombocytopenia was brought to our hospital due to fever and pallor. The physical examination on admission showed pale conjunctivae, skin rash, lymphadenopathy and hepatosplenomegaly. Subsequent laboratory studies showed pancytopenia, impaired liver function, elevated lactate dehydrogenase level but without evidence of disseminated intravascular coagulation. bone marrow aspiration demonstrated increased macrophages and prominent hemophagocytosis. The serological studies revealed a recent infection of human herpesvirus-6 which was confirmed by blood mononuclear cell culture and polymerase chain reaction. This infant was also found to have beta-thalassemia which was confirmed by hemoglobin electrophoresis performed before first transfusion. After treatment with intravenous immunoglobulin and other supportive therapies, the bone marrow abnormalities has completely recovered after 5 days, and the hemogram improved. This report demonstrates the human herpesvirus-6 as the etiology of hemophagocytic syndrome.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
4/5. Compound heterozygosity for hemoglobin Knossos [alpha 2 beta 2 27 (B9) Ala-Ser] and IVS I-1 mutation.A three-year-old female with compound heterozygosity for Hb Knossos and IVS-I-1 mutation is presented. On physical examination she had no abnormality except for pallor. Hb was 6.9 g/dl, MCV 61 fl, Hb A2 2% and Hb F 38.5%. Acrylamidegel electrophoresis at a pH of 6 revealed the presence of Hb Knossos in the child and her father. dna studies revealed that the child was compound heterozygous for Hb Knossos and the IVS I-1 mutation. When the clinical expression of this combination in a previously reported patient with Hb Knossos/FSC8 mutation is compared, it is shown that the newly presented patient has a more severe condition, indicating that the mutations in the trans of Hb Knossos may play a role in the phenotypical expression of the disease.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
5/5. spinal cord compression due to extramedullary hematopoiesis in beta-thalassemia intermedia.BACKGROUND: Extramedullary hematopoiesis (EMH) occurs in many disorders, including thalassemias and other hemoglobinopathies, and commonly presents in the spleen and liver. We present a case of spinal cord compression in a patient with beta-thalassemia intermedia, and review the literature and available treatment options. PATIENT AND methods: A 35-year-old black female with beta-thalassemia intermedia presented with a 3-week history of back pain and lower extremity weakness. neurologic examination was consistent with spinal cord compression, and gadolinium enhanced magnetic resonance imaging (MRI) confirmed this diagnosis. She was given intravenous steroids and radiotherapy was begun in 200 cGy fractions to a total dose of 2000 cGy. RESULTS: At the completion of radiotherapy the patient was ambulatory with mild residual weakness. MRI scans 16 months later showed smaller, but persistent masses, and she remains asymptomatic 5 years from her diagnosis. CONCLUSION: Recognition of spinal cord EMH requires prompt physical examination and MRI for accurate diagnosis. EMH can be managed with radiation, surgery, transfusions, or a combination of these therapies. radiation in conservative doses of (750-3500 cGy) is non-invasive, avoids the surgical risks of potentially severe hemorrhage and incomplete resection, and has a high complete remission rate in the majority of patients. Relapse rates are moderate (37.5%), but retreatment provides excellent chance for second remission.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |