761/897. Three sickle cell anemia patients each with a different alpha chain variant. Diagnostic complications. We have studied three sickle cell anemia patients who also carried a heterozygosity for one of the following alpha chain abnormalities: Hb G-philadelphia [alpha 68(E17)Asn-->Lys], Hb Montgomery [alpha 48 (CE6)Leu-->Arg], and Hb chicago [alpha 136(H19)Leu-->Met]. Electrophoretic analyses alone may result in incomplete and incorrect information. Confirmation of the diagnosis of Hb SS or Hb SC disease by one of the fast high performance liquid chromatographic procedures is recommended. ( info) |
762/897. Sickle myonecrosis revisited. This review focuses on the classification of sickle myonecrosis in the context of sickle cell vaso-occlusive crisis. Further, the potential and novel use of magnetic resonance imaging to further clarify the nature of sickle crisis is discussed. ( info) |
763/897. infection in major sickle hemoglobinopathies: should management strategies change? Four children with major sickle hemoglobinopathies developed severe pneumococcal infection. Three had sickle cell hemoglobin C (Hb SC) disease and one had sickle cell anemia (Hb SS). In three instances, there was a fatal outcome. The authors' experience with these cases leads them to question whether any patient with a major sickle hemoglobinopathy should be excluded from receiving prophylactic penicillin or if outpatient management with long-acting cephalosporin treatment in the sickle cell patient with suspected sepsis is appropriate therapy. ( info) |
764/897. beta -Thalassaemia, Haemoglobin S and Hereditary elliptocytosis in a Zairian family. Ischaemic costal necroses in a child with sickle cell beta -Thalassaemia. In a family of Low-Zaire, a child with sickle cell beta -thalassaemia disease, aged 7, presented 33.6% haemoglobin A. The clinical evolution was benign, except for the occurrence of an extensive bilateral ischemic necrosis of the ribs. This is the third case of sickle cell thalassaemia with the haemoglobin phenotype SFA reported in Zairians, whereas the SF phenotype has repeatedly been found: beta -thalassaemia seems therefore much rarer in Zairians than betadegrees-thalassaemia. Besides the thalassaemia trait and the sickle cell trait, hereditary elliptocytosis was also segregating in this family; double heterozygotes for Hb S and elliptocytosis or for beta-thalassaemia and elliptocytosis did not show any definite sign of genetic or clinical interaction between both traits. ( info) |
765/897. MRI of soft tissue abnormalities: a primary cause of sickle cell crisis. The early manifestations of sickle cell crisis in soft tissues are important to recognize, though rarely manifest on radiographs and difficult to evaluate on computed tomography and bone scans. documentation is critical, however, if appropriate judgments as to emergency treatment versus conservative measures are to be made. Seventeen adults seen in the emergency room or hospitalized in presumed sickle cells crisis underwent magnetic resonance imaging within 24-72 h of presentation. Results indicate that magnetic resonance imaging is a sensitive modality for documenting early soft tissue pathology which may be the predominant or sole cause of sickle cell crisis. ( info) |
| A patient suffering from sickle cell anaemia who presented with the acute chest syndrome is described. The syndrome is reported to be one of the commonest causes of death in adults suffering from sickle cell disease. As it is difficult at presentation to distinguish the syndrome from infection, it is usual to give treatment appropriate for both. Early exchange transfusion is thought to limit further damage from sickling and offers the best hope of recovery. ( info) |
767/897. Splenic sequestration syndrome at mountain altitudes in sickle/hemoglobin c disease. The splenic sequestration syndrome was observed in five children with sickle/hemoglobin C (S/C) disease in association with a change in altitude. In four of them, it occurred during or immediately following a trip to mountain altitudes greater than 9,000 feet.In the fifth child, the crisis occurred in ten days after travel in a pressurized plane from sea level to Denver. No previous reports of this complication in S/C patients during mountain travel have been noted although the occurrence is known in association with aircraft flights. ( info) |
| PURPOSE: To investigate the role of bone marrow transplantation in patients with severe sickle cell anemia (SCA). patients AND methods: We have designed a protocol for selecting patients with severe SCA who may benefit from bone marrow transplantation (BMT). On the basis of this protocol, a girl 3 9/12 years of age who had severe recurrent pain crises and splenic dysfunction received a BMT from her brother, who is homozygous for hemoglobin a. RESULTS: Transplantation resulted in prompt engraftment, followed by durable hematologic and immunologic reconstitution with donor cells. One year after BMT, the patient continued to do well. She did not experience any graft versus host disease, her growth velocity increased, and recovery of splenic function was demonstrated. Since undergoing BMT, she has not experienced any painful crises. CONCLUSIONS: bone marrow transplantation is an effective therapeutic modality that should be considered in patients with severe SCA. ( info) |
769/897. Acute encephalopathy, hypertension and gram negative sepsis in sickle cell disease. The case histories of two patients with sickle cell disease and gram negative sepsis complicated by encephalopathy and hypertension is presented. The first patient had 2 episodes of "hypertensive encephalopathy" before control of her blood pressure was achieved while the second patient had only one. The occurrence, though apparently rare, can have serious implications. Possible mechanisms are discussed and the need to monitor the blood pressure of children with sickle cell disease is stressed. ( info) |
770/897. maternal death due to acute necrotizing colitis in homozygous sickle cell disease. The case history is described of a 21-year-old female with homozygous sickle cell disease and fatal postpartum haemorrhage from the colon. At autopsy many sickled cells were found in the arterioles of the mucosa and submucosa in combination with necrotic lesions and ulcerations of the sigmoid colon. A causal association between occlusion of blood vessels by sickled cells and the occurrence of vascular necrosis of the sigmoid colon is suspected. ( info) |