1/68. Molecular exclusion of haemoglobin SD disease by prenatal diagnosis.The most common Hb D variant, Haemoglobin D (Hb D) los angeles is caused by a glutamic acid to glutamine substitution at codon 121 of the beta globin gene. Although asymptomatic in the heterozygous form, inheritance together with an Hb S allele can result in a severe disease similar to sickle-cell anaemia that is referred to as Hb SD disease. prenatal diagnosis for Hb SD disease was requested by an at-risk couple of Irish/English descent. prenatal diagnosis was performed on dna isolated from chorionic villi at 12 weeks' gestation using dot blot and allele-specific oligonucleotide hybridization for the HbS mutation, and two independent approaches, restriction fragment analysis and ARMS (amplification refractory mutation system) for the detection of the Hb D los angeles mutation. The fetus was found to be heterozygous for the HbS mutation, but did not inherit the HbD mutation. Thus, a reliable and rapid prenatal diagnosis for the Hb SD disease can be achieved by molecular diagnosis.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
2/68. Large cerebral vessel disease in sickle cell anaemia.An 18 year old male with documented sickle cell disease was admitted to the hospital for the final time in coma. cerebral angiography revealed multiple stenotic lesions of the large cerebral vessels. The pathology of this large vessel involvement is demonstrated and the potential contribution of large as opposed to small cerebral vessel disease in the neurological manifestations of sickle cell anaemia is discussed.- - - - - - - - - - ranking = 5keywords = anaemia (Clic here for more details about this article) |
3/68. Sickle cell disease and nitrous oxide-induced neuropathy.We report three cases of peripheral neuropathy in patients with sickle cell disease. All had a history of frequent painful crises and regular attendance at our Accident and Emergency department where nitrous oxide analgesia was administered for prolonged periods. All three patients (one male and two females) presented with difficulty in walking associated with paraesthesiae, and neurological examination revealed signs compatible with a peripheral sensorimotor neuropathy, later confirmed by nerve conduction studies. serum vitamin B12 levels were mildly reduced in two patients and very low in one patient (< 10 ng/l). Haemoglobin levels in all the patients were unchanged compared with their steady-state levels but one had developed a macrocytosis (103 fl). Schilling tests were normal in two patients, and two patients had negative gastric parietal antibodies. All three patients were given intramuscular vitamin B12 in addition to avoiding further exposure to nitrous oxide, and their neurological symptoms improved completely. As nitrous oxide is known to cause a neuropathy similar to that seen in pernicious anaemia, we postulate that nitrous oxide analgesia combined with low B12 levels was the cause of the marked neuropathy in these patients. As a result of our observations and the probable association, we now do not use nitrous oxide analgesia in the management of patients with sickle cell disease.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
4/68. Hereditary congenital cataracts associated with sickle cell anaemia in a Nigerian family.Pedigrees of hereditary disorders are rarely reported from sub-Saharan countries because of difficulties inherent in obtaining reliable family histories, case tracing and follow-up. This report relates to a four-generation family in northern nigeria with dominantly inherited cataracts associated with recessively inherited sickle cell anaemia. It highlights the need for genetic counselling services in clinical practice in the region.- - - - - - - - - - ranking = 5keywords = anaemia (Clic here for more details about this article) |
5/68. A 'made in one piece' skeleton in a 22-year-old man suffering from sickle cell anaemia.A 22-year-old African male with known sickle cell anaemia was referred by a Congolese medical centre with a request to improve his poor physical condition. He was unable to walk, stand or sit because his large joints and his spine were either ankylosed or very rigid. Radiographs showed joint fusion from the third to the fifth cervical vertebrae, of both hips, of the left knee, and a bilateral osteonecrosis of the humeral head. There was no scintigraphic evidence for an active osteomyelitis (99mTc-MDP (methyldiphosphonate) bone scan, Tc monoclonal antigranulocyte scan and 99mTc sulphur colloid scan). To improve his mobility the right femoral head was resected in June 1997; 14 days later the left femoral head was resected. Four months after the resection of the right hip, a right uncemented total hip prosthesis was implanted on this side. One month later the same type of hip arthroplasty was performed on the left side. During the postoperative rehabilitation period the patient regained autonomy. We have found no previous reports of such severe and multiple joint complications in a single patient suffering from sickle cell anaemia.- - - - - - - - - - ranking = 6keywords = anaemia (Clic here for more details about this article) |
6/68. Group A beta-haemolytic streptococcal acute chest event in a child with sickle cell anaemia.acute chest syndrome is a major cause of death and hospitalisation in children with sickle cell anaemia. It is often initiated by an infection, particularly pneumonia. Microbial agents previously not associated with acute chest syndrome are becoming increasingly important. Group A beta-haemolytic streptococcus (GABHS) is thought to be an uncommon cause of pneumonia in children with sickle cell anaemia. We report a 15-year-old African-American girl who presented with an acute chest event characterised by fever, cough, chest pain, shortness of breath, right upper abdominal quadrant pain, jaundice and otitis media. Chest radiograph showed multi-lobar pneumonia with left pleural effusion. Group A beta-haemolytic streptococcus was isolated from culture of pleural and middle ear fluids. She responded to therapy that included antibiotics, exchange blood transfusion, oxygen, thoracotomy chest tube drainage and decortication. In a child with sickle cell anaemia presenting with fever and an acute chest event, pneumonia should be considered and GABHS recognised as a possible aetiological agent. In addition, a chest X-ray should be obtained and antibiotics against agents causing community-acquired pneumonia instituted.- - - - - - - - - - ranking = 7keywords = anaemia (Clic here for more details about this article) |
7/68. 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 Sbeta thalassaemia (HbSbeta (thal), one sickle cell anaemia (HbSS), who developed MM (three IgGkappa, one IgGlambda, one IgAkappa, and one IgGK-IgAK (biclonal). Our HbSbeta 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.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
8/68. MRSA pyomyositis complicating sickle cell anaemia.A patient being treated for sickle cell crisis developed swollen, painful, indurated, discoloured thighs after several days in hospital. Imaging revealed the presence of multiple small abscesses in the muscle and methicillin resistant staphylococcus aureus (MRSA) was cultured from aspirated fluid. pyomyositis usually occurs in association with damaged muscle and impaired host defences. Staphylococcus is the most frequent organism involved. It is not a common complication of sickle cell disease, although it may be under diagnosed. Availability of advanced imaging techniques facilitates early diagnosis of pyomyositis.- - - - - - - - - - ranking = 4keywords = anaemia (Clic here for more details about this article) |
9/68. hyperventilation-precipitated cerebrovascular accident in a patient with sickle cell anaemia.hyperventilation exercise during electroencephalography precipitated a recurrence of right hemiplegia and aphasia in a patient with Hb SS disease. Although recovery of function started within hours of the event, full recovery has not occurred six months after. hyperventilation provocative test during electroencephalography should be discouraged in patients with sickle cell anaemia.- - - - - - - - - - ranking = 5keywords = anaemia (Clic here for more details about this article) |
10/68. Vertebral bone collapse in sickle cell disease: a report of two cases.We describe two female children both nine years of age with sickle cell anaemia and compression deformity of three successive lumbar vertebrae in one child and collapse of one lumbar vertebra in the other. Management for the two children included analgesics, antibiotics and application of a lumbar jacket for stabilisation of the spine. In both patients the vertebral bodies remodelling with re-generation of the tissue. This report is being made to highlight the improved chances of response with early detection and adequate management.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
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