1/14. Massive hemothorax due to intrathoracic extramedullary hematopoiesis in a patient with hereditary spherocytosis.Extramedullary hematopoiesis (EMH) is a rare disorder, characterized by the appearance of hematopoietic elements outside of the bone marrow, which occurs in patients with chronic myeloproliferative disorders or congenital hemolytic anemias. We report on a 64-year-old man with hereditary spherocytosis, who presented with anemia, jaundice, intrathoracic EMH, and massive hemothorax. The diagnosis of EMH was established after computer tomography (CT)-guided punctuation of the paravertebral mass. The patient underwent splenectomy and thoracic drainage. After 1 year, the patient is in good health, with normal hemoglobin values, and hemothorax has not recurred.- - - - - - - - - - ranking = 1keywords = jaundice (Clic here for more details about this article) |
2/14. Extramedullary hematopoiesis in a child with hereditary spherocytosis: an uncommon cause of an adrenal mass.We report a case of extramedullary hematopoiesis presenting as an adrenal mass in a young male with hereditary spherocytosis. The unilateral adrenal mass was discovered during an abdominal ultrasound performed for jaundice. CT and MR imaging were subsequently performed, followed by an excisional biopsy at the time of splenectomy and cholecystectomy. Although extramedullary hematopoiesis is a rare cause of an adrenal mass, the diagnosis must be considered in any patient with a history of a congenital hemolytic disorder such as hereditary spherocytosis. In this regard, the morbidity of an unnecessary procedure may be avoided.- - - - - - - - - - ranking = 1keywords = jaundice (Clic here for more details about this article) |
3/14. Hereditary spherocytosis (HS) due to loss of anion exchange transporter.BACKGROUND. Hereditary spherocytosis encompasses a heterogenous group of inherited disorders due to alteration of r.b.c. surface/volume ratio. spectrin deficiency is the most common observed defect. We analyzed a case of HS associated with band 3 deficiency without spectrin reduction. methods. In the study of a family originating from southern italy, we show that a 20% deficiency of band 3 with normal spectrin content may be responsible for dominantly inherited hereditary spherocytosis (HS). The proband is a 12 years old girl consulting for jaundice, chronic anaemia and splenomegaly. Her mother had a similar haematologic phenotype. RESULTS. Electrophoretic analysis of erythrocyte membrane proteins showed a deficiency in band 3 protein. Band 3 protein chymotryptic fragments, deglycosylated band 3, and its isolated cytoplasmic domain, all displayed normal electrophoretic migrations. Furthermore, the tryptic peptides profile of the cytoplasmic domain of the protein did not demonstrate any abnormality, nor did the amino acid composition of the peptides. Analysis of the membrane proteins during erythrocyte ageing, evaluated in density-fractionated red cells, showed that band 3 content was normal in the lighter fraction, whereas in the denser fraction band 3 deficiency was more pronounced than in membranes from non fractionated red blood cells. CONCLUSIONS. This case describes HS due to anion exchange transporter deficiency. Our results on fractioned red cells support the hypothesis that the defect was probably due to a band 3 protein loss during cell ageing and not to a primitive quantitative defect.- - - - - - - - - - ranking = 1keywords = jaundice (Clic here for more details about this article) |
4/14. Homozygosity for dominant form of hereditary spherocytosis.A 6-month-old male infant with hereditary spherocytosis (HS) who was the first child of a cousin marriage is presented. The patient had splenomegaly and severe anaemia. Examination of the peripheral blood smear revealed spherocytes and the osmotic fragility of red blood cells was greatly increased. physical examination of the parents revealed that both parents had mild anaemia, jaundice and splenomegaly. Their peripheral blood smears showed spherocytes and a few acanthocytes. osmotic fragility of red blood cells of both parents were increased. Red cell membrane electrophoresis indicated a deficiency of ankyrin in the propositus; mild deficiency was also detected in both parents. Electrophoretic patterns of red cell membrane proteins suggested that the child was homozygous for the dominant form of HS associated with ankyrin deficiency, while both parents had the simple dominant form of the disease. Red blood cell transfusions were given to the patient starting at the age of 1 month until splenectomy was performed at the age of 1 year that resulted in complete haematological response. This observation indicates that homozygosity for dominant type of HS associated with ankyrin deficiency is life compatible and splenectomy may cure the anaemia.- - - - - - - - - - ranking = 1keywords = jaundice (Clic here for more details about this article) |
5/14. Hereditary spherocytosis.Hereditary spherocytosis is a congenital haemolytic anaemia due to defect in spectrin-a RBC membrane protein and is transmitted as autosomal dominant. Due to this defect there is presence of characteristic spherical cell in peripheral blood smear and osmotic fragility is increased. Haemolytic anaemia, reticulocytosis, jaundice and splenomegaly are present. This article reports a case of a 9 year old boy who presented with a history of prolonged jaundice since the age of 4 years and recurrent pain in the right upper quadrant of abdomen. Clinical examination revealed jaundice, enlarged liver and marked splenomegaly. Investigations confirmed the diagnosis of hereditary spherocytosis by the presence of spherocytes in blood smear, raised reticulocytes and increased osmotic fragility. The patient was subjected to splenectomy after vaccination against coccobacillus and was discharged after proper advice and on post splenectomy antibiotic prophylaxis.- - - - - - - - - - ranking = 3keywords = jaundice (Clic here for more details about this article) |
6/14. Hereditary spherocytosis in a newborn with carrier state parents--a family study.A four-hour-old male newborn was diagnosed as hereditary spherocytosis by routine blood examination. There was no family history of anemia, jaundice or splenectomy. osmotic fragility and autohemolysis tests were positive both in patient and parents. However there were no abnormal findings in physical and routine blood examinations of parents and a sibling. Hereditary spherocytosis is rather a difficult diagnostic problem during the neonatal period when there is no family history. The clinical manifestation and unusual genetic carrier pattern in the parents are discussed.- - - - - - - - - - ranking = 1keywords = jaundice (Clic here for more details about this article) |
7/14. Preoperative computed tomography and scintigraphy to facilitate the detection of accessory spleen in patients with hematologic disorders.Accessory spleens of 1.5 cm in size were preoperatively identified by the combined use of computerized tomography and splenic scintigraphy in two patients with hematologic diseases. After the accessory spleen had been removed from the first patient, who had persistent hereditary spherocytosis and had undergone a splenectomy 15 months before, a postoperative decrease in hyperbilirubinemia was noted. In the other patient who had idiopathic thrombocytopenic purpura, a successful accessory splenectomy was done at the same time as her splenectomy, and was followed by 6 months' complete remission. These events indicate that preoperative investigations using computerized tomography and scintigraphy are indispensable for ruling out an accessory spleen in those patients for whom splenectomy needs to be done in order to alleviate hematologic disorders.- - - - - - - - - - ranking = 0.01408903563694keywords = idiopathic (Clic here for more details about this article) |
8/14. association of hereditary spherocytosis and idiopathic hemochromatosis. A synergistic effect in determining iron overload.Two siblings, both splenectomized at an early age for hereditary spherocytosis, had a severe hemochromatosis develop. The human leukocyte antigen (HLA) system typing showed that they were half HLA identical. All the other members of the family who did not have evidence of hereditary spherocytosis, including those who displayed identical HLA haplotypes with the two patients, did not have any increase in iron stores. These results suggest that the two siblings are heterozygous for idiopathic hemochromatosis and that the coexistence of this condition with hereditary spherocytosis can cause a severe iron overload.- - - - - - - - - - ranking = 0.070445178184698keywords = idiopathic (Clic here for more details about this article) |
9/14. Postsplenectomy sepsis 10 years or more after operation.Three new cases (two fatal) of postsplenectomy sepsis occurring 14, 25, and 26 years after operation for hereditary spherocytosis are described. There are now 25 cases in the published work in which this complication occurred 10 or more years after operation, 14 of which were fatal. The mean age of onset is 37 years. The features of the disease are similar to those seen in other postsplenectomy infections, and pneumococcal infection was responsible in 19 cases (76%). The major predisposing illnesses were trauma, hereditary spherocytosis, and idiopathic thrombocytopenia.- - - - - - - - - - ranking = 0.01408903563694keywords = idiopathic (Clic here for more details about this article) |
10/14. iron overload associated with congenital pyruvate kinase deficiency and high dose ascorbic acid ingestion.iron overload is an uncommon complication of untransfused chronic hemolytic anemias. This paper describes only the fourth reported case of erythrocyte pyruvate kinase deficiency and iron overload. Important aspects of this case are the presence of the HLA genotype commonly associated with genetic (idiopathic) hemochromatosis and a history of ingestion of large doses of ascorbic acid. Their roles in the development of iron loading and toxicity are discussed. A beneficial response to treatment with desferrioxamine was observed before significant iron removal. A mechanism for this action of desferrioxamine is proposed.- - - - - - - - - - ranking = 0.01408903563694keywords = idiopathic (Clic here for more details about this article) |
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