Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Children comprised 52% of patients with Sickle Cell Disease (SCD). Types of Sickle Cell Disease encountered were SS (92.7%). SB thalassaemia (6.7%) and SD disease (0.7%). The disease was widespread in almost all castes and communities in the society; largest number of patients (20%) belonging to scheduled castes and only 1.4% were from scheduled tribes. Maximum number of cases were in the age group 2-4 and 4-6 years, many of whom died around this age. Besides attacks of pain, jaundice and anemia, frequent attacks of fever with anemia or only anemia in childhood were a predominant presenting feature. Splenic sequestration was frequent (10.1%). The patients usually had a steady state hemoglobin level of 6-10 g/dl, with which they thrived well. Fetal hemoglobin was 5-30%. Blood transfusion was not a frequent requirement, but prophylactic long acting penicillin was helpful in preventing frequency of crisis.
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PMID:Clinical profile of sickle cell disease in Orissa. 1077 15

A subset of 299 patients with homozygous sickle cell anaemia, enrolled in the cohort of the French Study Group on sickle cell disease (SCD), was investigated in this study. The majority of patients were children (mean age 10.1 +/- 5.8 yr) of first generation immigrants from Western and Central Africa, the others originated from the French West Indies (20.2%). We report the frequency of the main clinical events (mean follow-up 4.2 +/- 2.2 yr). The prevalence of meningitis-septicaemia and osteomyelitis was, respectively, 11.4% and 12% acute chest syndrome was observed in 134 patients (44.8%). Twenty patients (6.7%) developed stroke with peak prevalence at 10-15 yr of age. One hundred and seventy-two patients (58%) suffered from one or more painful sickle cell crises, while the others (42.5%) never suffered from pain. The overall frequency of acute anaemic episodes was 50.5%, (acute aplastic anaemia 46%; acute splenic sequestration 26%). A group of 27 patients were asymptomatic (follow-up > 3 yr). Epistatic mechanisms influencing SCD were studied. Coinherited alpha-thalassemia strongly reduced the risk of stroke (p <0.001) and increased that of painful crises (p < 0.02). There was a low prevalence of Senegal and Bantu (CAR) betas-chromosomes in patients with meningitis (p <0.04) and osteomyelitis (p < 0.03). Prevalence of Senegal betas-chromosomes was lower in the asymptomatic group of 27 patients (p < 0.02). The patients come from a population of unmixed immigrants in whom the beta-globin gene haplotype strongly reflects the geographic origin and identifies subgroups with a homogenous genetic background. Thus the observed effects might result more from differences in as yet unidentified determinants in the genetic background than from the direct linkage with differences in the beta-globin gene locus.
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PMID:Acute clinical events in 299 homozygous sickle cell patients living in France. French Study Group on Sickle Cell Disease. 1100 50

A 40-year-old Xhosa male presented with progressive upper lumbar back pain and weakness At examination he was emaciated and had enlarged lymph nodes in the groin and axilla. Both lower limbs were severely atrophic and weak. Sensation to touch and pain was decreased below L3 bilaterally. MR of the spine showed a discrete, contrast-enhancing epidural mass. A T10-T12 laminectomy revealed an soft, vascular extradural tumor dorsal to the cord. The mass was loosely applied to the dura and easy to remove. The operative specimen consisted of a sausage-shaped (3.5 x 2.0 x 1.2 cm), thinly-encapsulated mass of reddish-brown tissue. The cut surface had a mottled, vaguely nodular, yellowish-brown appearance. Microscopic examination revealed sheets of hematopoeitic elements, including myeloid, red cell and megakaryocytic lines, the latter showing Factor 8-related positivity. The final diagnosis was extramedullary hematopoiesis (EMH). A bone marrow biopsy performed as a result of the diagnosis showed a myeloproliferative disease and polycythemia vera. EMH in the spinal epidural space is a rare but treatable cause of progressive paraparesis in patients with a variety of hematological disorders. Since 1956 there have been more than 50 reported cases, most of which occurred in association with thalassaemia. In spinal cord compression secondary to EMH, the lesions are commonly localized to the mid-lower thoracic region.
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PMID:October 2001: 40-year-old Xhosa male with back pain and leg weakness. 1195 81

A retrospective survey was conducted over a 10-year period (1990-99) among 52 haematology divisions in order to evaluate the clinical and laboratory characteristics and outcome of patients with proven Pneumocystis carinii pneumonia (PCP) complicating haematological diseases. The study included 55 patients (18 with non-Hodgkin's lymphoma, 10 with acute lymphoblastic leukaemia, eight with acute myeloid leukaemia, five with chronic myeloid leukaemia, four with chronic lymphocytic leukaemia, four with multiple myeloma, three with myelodysplastic syndrome, two with myelofibrosis and one with thalassemia) who developed PCP. Among these, 18 (33%) underwent stem cell transplantation; only two received an oral prophylaxis with trimethroprim/sulphamethoxazole. Twelve patients (22%) developed PCP despite protective isolation in a laminar airflow room. The most frequent symptoms were: fever (86%), dyspnoea (78%), non-productive cough (71%), thoracic pain (14%) and chills (5%); a severe hypoxaemia was present in 39 patients (71%). Chest radiography or computerized tomography showed interstitial infiltrates in 34 patients (62%), alveolar infiltrates in 12 patients (22%), and alveolar-interstitial infiltrates in nine patients (16%). Bronchoalveolar lavage was diagnostic in 47/48 patients, induced sputum in 9/18 patients and lung biopsy in 3/8 patients. The diagnosis was made in two patients at autopsy. All patients except one started a specific treatment (52 patients trimethroprim/sulphamethoxazole, one pentamidine and one dapsone). Sixteen patients (29%) died of PCP within 30 d of diagnosis. Multivariate analysis showed that prolonged steroid treatment (P < 0.006) and a radiological picture of diffuse lung involvement (P < 0.003) were negative diagnostic factors.
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PMID:Pneumocystis carinii pneumonia in patients with malignant haematological diseases: 10 years' experience of infection in GIMEMA centres. 1197 21

The case of an eight years old African boy who suffers from sickle cell-thalassemia is presented. In the course of the disease frequent pain attacks occurred within the abdomen and extremities, recently also within the trunk. Local pain, at some occasions in combination with local swelling and always positive laboratory parameters for inflammation, hindered a solely clinical differentiation between bone infarcts and osteomyelitis. Bone scintigraphy, eventually in combination with bone marrow scintigraphy, can assist the clinician in the differentiation of aseptic bone infarcts versus secondary osteomyelitis. Based on the presented case scintigraphic results for bone infarcts, osteomyelitis and special scintigraphic pattern seen in sickle cell disease are presented. Furthermore, problems regarding the interpretation of the scintigraphies in relation to the delayed time after the beginning of pain attacks are discussed.
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PMID:[Scintigraphic findings in a patient with sickle-cell thalassemia and recurrent pain attacks]. 1265 69

Marked variability is a keynote in the disease course of patients with hemoglobin SC (Hb SC) and hemoglobin S/beta(+)-thalassemia (Hb S/beta(+)-thal), with some patients having a frequency of complications and painful episodes similar to patients with homozygous sickle cell (Hb SS) disease. One possible explanation is that the higher hematocrit in these syndromes may contribute to an increase in blood viscosity, leading to vaso-occlusive pain episodes as well as an increased incidence of thromboembolic complications and retinopathy. We present a patient with Hb SC disease with an excellent baseline functional status who developed splenic infarction at a high altitude. Following splenectomy, the patient developed a sustained increase in hematocrit, an increase in the frequency of painful episodes, as well as new-onset dizziness and malaise. We initiated a therapeutic phlebotomy program in order to lower the hematocrit to pre-splenectomy values, as well as to induce iron deficiency. Repeated phlebotomy resulted in a dramatic decrease in symptoms. Our patient no longer requires narcotic analgesics for pain, has resolution of constitutional symptoms, and has not required further hospitalizations for vaso-occlusive pain crises. The correlation between symptoms and hematocrit levels supports the importance of blood viscosity in contributing to this patient's symptoms. A trial of phlebotomy to reduce viscosity in patients with higher hematocrit values should be considered as an intervention for symptomatic patients with sickle cell disease.
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PMID:Role of phlebotomy in the management of hemoglobin SC disease: case report and review of the literature. 1274 14

There is a description of an observation of patient N., aged 29, (a student of Russian University for Peoples' Friendship and a citizen of Tanzania) suffering from sickle-cell anemia--SCA--(HbSS), homozygous type, which was detected at screening of abnormal Hb by electrophoresis on the cellulose acetate strips. The results of clinical-and-biological examinations of the patients are described. The patient had anemia (Hb 98-83 g/L); thrombotic (pain) crises with dark urination were periodically observed. HbS accounted for the bulwark (98%) of Hb, while small fractions of Hb (HbF and HbA2) were within the normal limits. This was a comparatively mild form of the disease; the patient had minor changes in the heart and lungs with other internal bodies being intact. Patient N. received, from childhood, an appropriate therapy including antibiotics, folic acid, analgesics etc. Obviously, this provides for an explanation to that he lived up to 29 years, withstood the acclimatization in Russia and could get education. A comparison of the clinical-and-laboratory indices of patient N. with the data of patients with SCA of other types (HbS-thalassemia, HbSC and HbSK) is presented.
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PMID:[Sickle cell anemia (HBSS) in an adult patient from Tanzania]. 1291 Jun 40

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.
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PMID:An interesting presentation of intrathoracic extramedullary hematopoiesis in a patient with thalassemia intermedia. 1464 Nov 47

Orbital compression syndrome is caused by disorders of varying etiologies involving the orbit and presents with ocular and extraocular dysfunction. Ocular involvement of sickle cell disease is uncommon. A 17-year-old male presented with low backache and proptosis of both eyes of 5 days duration without past history of pain crisis or transfusion. Examination revealed pallor, icterus, bilateral proptosis, conjuctival chemosis, and symmetrical restriction of ocular movements with preserved visual acuity. He was drowsy with no other focal deficits. The fundus showed macular edema, venous engorgement, and no hemorrhage. His peripheral smear showed presence of sickle cells. Computed tomography (CT) scan of the orbit revealed orbital subperiosteal hematomas. CT head images showed epidural hematoma in the frontal lobe. High-performance liquid chromatography (HPLC) and mutation studies revealed sickle beta-thalassemia in the patient. He was managed with supportive care, transfusions to keep hemoglobin above 10 g/dl, and hydroxyurea. The patient recovered fully and remained well during follow-up of 12 months. Our case was unique for presenting as orbital compression syndrome without any history of vaso-occlusive crisis.
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PMID:Sickle beta-thalassemia presenting as orbital compression syndrome. 1498 68

The study aimed to explore the lived experience of young people with sickle cell disease as they transferred to adult services. A cross-sectional study using semistructured questionnaires is described. Eleven young people (12-16 years) attending a sickle cell and thalassaemia centre as they approached transition from paediatric to adult services were successfully recruited to the study. Sickle cell disease was reported to interfere with various aspects of their 'normal' lives. Fatigue and pain were common symptoms. Reported adherence to prophylaxis was variable. It was concluded that young people with sickle cell disease require support drawing on a range of expertise and that the medical model of service delivery may not meet all their needs.
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PMID:Living with sickle cell disease: the perspective of young people. 1512 65


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