Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Seventeen adult males and females with Hb-SS, Hb-SC (1) and Hb-S Thal (1) hemoglobinopathies were continuously studied for 3 years. Various hematological and biochemical parameters were measured in the venous blood of the subjects for blood gases, CBC profile, blood chemistry (SMA-18), fibrinogen, alpha-HBD and myoglobin levels, percent sickling, blood viscosity, oxygen affinity of whole blood, osmofragility of red blood cells and calcium and zinc contents in plasma and in RBC. The results were compared between those subjects who encountered more frequent vaso-occlusive crisis episodes (frequent sicklers) and those with fewer crisis episodes (infrequent sicklers), along with parameters between crisis and non-crisis states of frequent sicklers. Our studies showed that percent sickling, P50 for O2, CBC profile, PO2, serum calcium, ALP, LDH, alpha-HBD level, zinc and calcium levels in plasma and in RBC varied between crisis and non-crisis states of frequent sicklers and also between frequent sicklers and infrequent sicklers. A logical explanation of such variations may help in understanding the etiology of vaso-occlusive crisis episodes in sickle cell disease.
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PMID:Vaso-occlusive crisis episodes in sickle cell disease. 347 66

Red cell distribution width (RDW), an electronically determined index of anisocytosis, was examined in 60 patients with sickle cell anemia (Hb SS), 28 patients with hemoglobin sickle cell (SC) disease, and seven patients with sickle cell-beta(+) thalassemia (S-thal). All patients were adults and in the steady state of their disease. The RDW was greater in sickle cell patients than in 39 healthy, age and race matched controls without hemoglobinopathy (Hb AA). Patients with sickle cell anemia had higher mean RDW than those with Hb SC disease or with S-thal. The mean RDWs in the latter two disorders were not significantly different. In SS patients, the RDW correlated significantly with the degree of anemia and reticulocytosis. A group of 18 SS patients was studied while in acute painful crisis. Their mean RDW was not different from that in the steady state. Mean WBC and red cell volume, however, were significantly higher during pain crisis.
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PMID:Red cell distribution width in sickle cell disease. 374 Jul 96

The records of 68 patients with hemoglobin SC disease and 68 age- and sex-matched control patients were reviewed for neurological problems. A significant increase in retinopathy, stupor/coma, and seizures was noted in the hemoglobin SC group. Hemiplegia, noted in two young patients, was probably also secondary to hemoglobin SC disease. Hemoglobin SC disease may often go unrecognized as a cause of stupor and coma in older patients without other obvious manifestations of a sickling hemoglobinopathy. Factors known to precipitate sickling crisis and the associated neurological complications should be avoided, especially in patients undergoing surgery or parturition.
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PMID:Neurological complications of hemoglobin SC disease. 669 47

The Laboratory Proficiency Testing Program has been in effect for 20 years. During the past 6 years, samples were distributed for screening, investigation, and identification of hemoglobinopathies to test laboratory proficiency. Six samples for hemoglobin (Hb) S screening were distributed to from 37 to 163 laboratories that perform screening tests for sickle cell disease, and 10 samples were distributed to from 52 to 71 laboratories that perform Hb electrophoresis. Assessment of unacceptable results was based on clinical significance of the errors; educational follow-up was implemented to address these results. Most participants demonstrated acceptable performance. The error rates for sickle cell screening were 2.7% to 19.7%; the poorest performance was noted for Hb SC disease. The error rates for Hb electrophoresis were 1.4% to 36.8%; the poorest performance was noted in the investigation of Hb H disease and alpha-thalassemia trait. Improved survey performance was observed in the screening for Hb S trait and in the investigation of Hb H disease, which illustrates the benefits of proficiency testing and its positive effect on laboratory services.
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PMID:Proficiency testing of hemoglobinopathy techniques in Ontario laboratories. 957 88

Screening of the university students for hemoglobinopathies detected 153 patients with various hemoglobin abnormalities; 69 with Hb AS, 3 with Hb S-beta-thalassemia, 4 with Hb S-alpha-thalassemia, 3 with hb SC, 1 with Hb SK, 1 with Hb CC, 38 with Hb AC, 1 with Hb A O Arab, 4 with Hb EE, 25 with Hb AE, 1 with Hb AD, 1 with Hb AI, 1 with beta-thalassemia major, and 1 with beta-thalassemia minor. The most grave disease was observed in a child with Hb S-beta-thalassemia and in a youth with beta-thalassemia major. The patterns of Hb SC disease varied. The majority of heterozygote carriers of Hb S, Hb C, Hb E, etc. were healthy. A total of 7000 students were screened by express electrophoresis on cellulose acetate films. more than 400 subjects with abnormal hemoglobins were detected, the most numerous of which were heterozygote carriers of Hb S (Hb AS).
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PMID:[Hemoglobinopathies in students at the Russian University of the Friendship of Peoples]. 1039 34

A variety of gene therapy strategies are under development for the treatment of sickle cell anemia and other hemoglobinopathies. A number of alternative vectors have been developed to transfer and express the beta-globin gene and other therapeutic molecules, but none has resulted in efficient transduction and stable long-term expression in primary hematopoietic cells. One reason for this problem is that most vectors are initially evaluated in immortalized cell lines which may not faithfully recapitulate the biology of primary erythroid cells. In order to provide a more relevant system for efficiently evaluating alternative vector constructs for beta-globin disorders, we have developed (1) a simple method for generating primary human red blood cell (RBC) precursors in liquid culture established with mononuclear cells obtained from normal donors as well as patients with Hb SC disease; (2) a high titer retroviral vector which can be easily modified to optimize gene transfer and transgene expression; and (3) methods for transducing the RBC precursors at high efficiency. The development of simple and efficient methods and reagents for generating and transducing primary human RBC precursors provides a facile and effective means for screening alternative gene therapy strategies. Gene Therapy (2000) 7, 215-223.
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PMID:An in vitro system for efficiently evaluating gene therapy approaches to hemoglobinopathies. 1069 98

The hemoglobin (Hb) SC genotype is seen in persons who have inherited the gene for hemoglobin S from one parent and the gene for hemoglobin C from the other. Some people with this genotype develop Hb SC disease, a variant of sickle cell disease. Hb SC disease, a compound heterozygous condition, is the most common of the hemoglobinopathies and the least severe, although it is still serious. One of the documented complications of the presence of the Hb SC genotype is sensorineural hearing loss (SNHL). We conducted a prospective case-control study of 43 subjects, aged 15 to 65 years, who had the Hb SC genotype to determine the incidence of SNHL and to determine if the hearing loss in these subjects was correlated with sex or age. Our control group was made up of 100 generally healthy, sex- and age-matched subjects with the normal Hb AA genotype. SNHL was defined as a loss of more than 25 dB HL at two or more frequencies in the same ear or at one or more frequencies in both ears. We found that SNHL was present in 12 of the 43 subjects (27.9%) in the Hb SC group (17 of 86 ears [19.8%]) and in 17 of the 100 subjects (17.0%) in the Hb AA group (21 of 200 ears [10.5%]; the difference between the two groups was not statistically significant (chi(2) = 1.589; p = 0.105). We found that in the Hb SC group, SNHL was more common among females than males (38.5 vs. 11.8%), although the difference was not quite significant statistically (chi(2) = 2.435; p = 0.056); in the Hb AA group, the incidence was fairly equal-15.4 and 18.8%, respectively (chi(2) = 0.033; p = 0.427). Therefore, we conclude that the hearing loss in the subjects of this study was not correlated with the presence of the Hb SC genotype in either sex. In terms of age, SNHL was significantly more common in subjects aged 41 to 65 years than in those aged 15 to 40 years in both genotype groups. In the Hb SC group, SNHL was present in 4 of the 33 younger subjects (12.1%) and in 8 of the 10 older subjects (80.0%) (chi(2) = 14.354; p < 0.001). In the Hb AA group, the corresponding figures were 7 of 85 (8.2%) and 10 of 15 (66.7%) (chi(2) = 26.840; p < 0.001). Therefore, we conclude that the hearing loss in the subjects of this study was a function of age and was not associated with the presence of the Hb SC genotype.
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PMID:Hearing impairment in persons with the hemoglobin SC genotype. 2062 88

Hemoglobin SC disease is a very prevalent hemoglobinopathy; however, very little is known about this condition specifically. There appears to be an increased risk of thromboembolic events in hemoglobin SC disease, but studies evaluating the hemostatic alterations are lacking. We describe the findings of a cross-sectional observational study evaluating coagulation activation markers in adult patients with hemoglobin SC, comparing them with those in sickle cell anemia patients and healthy controls. A total of 56 hemoglobin SC and 39 sickle cell anemia patients were included in the study, all in steady state, and 27 healthy controls. None of the patients was taking hydroxyurea. Hemoglobin SC patients had a significantly up-regulated relative expression of tissue factor, as well as elevations in thrombin-antithrombin complex and D-dimer, in comparison to controls (P<0.01). Hemoglobin SC patients had lower tissue factor expression, and thrombin-antithrombin complex and D-dimer levels when compared to sickle cell anemia patients (P<0.05). Markers of endothelial activation (soluble thrombomodulin and soluble vascular cell adhesion molecule-1) and inflammation (tumor necrosis factor-alpha) were both significantly elevated in hemoglobin SC patients when compared to controls, being as high as the levels seen in patients with sickle cell anemia. Overall, in hemoglobin SC patients, higher hemolytic activity and inflammation were associated with a more intense activation of coagulation, and hemostatic activation was associated with two very prevalent chronic complications seen in hemoglobin SC disease: retinopathy and osteonecrosis. In summary, our results demonstrate that hemoglobin SC patients have a hypercoagulable state, although this manifestation was not as intense as that seen in sickle cell anemia.
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PMID:Elevated hypercoagulability markers in hemoglobin SC disease. 2559 72

Hemoglobinopathies involving Hemoglobin S, like Hemoglobin SC disease, are characterized by anemia and vaso-occlusive crises. Vaso-occlusive crises can range in severity from localized pain to acute chest syndrome and myocardial infarction. These crises are usually brought on by stressors that induce hypothermia, hypoxia or acidosis, such as surgery [1]. Here we report a case of acute chest syndrome in a child with Hemoglobin SC disease following adenotonsillectomy and review of the literature regarding acute chest syndrome following adenotonsillectomy.
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PMID:Acute chest syndrome following adenotonsillectomy in a pediatric patient with Hemoglobin SC disease. 2574 94

Hemoglobin D is a relatively rare disease first reported in 1951. We present the first reported case of Hemoglobin DC disease. This is a case of a Hemoglobinopathy with DC disease in a woman with a previous diagnosis of Hemoglobin SC disease. A 19-year-old woman presented to the Adult Hematology clinic at a tertiary care hospital in Northwest Louisiana for transition of care from Pediatric Hematology for a diagnosis of Hemoglobin SC disease diagnosed at the age 4. Historical data suggested no avascular necrosis, acute chest syndrome, and very few episodes of pain crisis. She has never taken hydroxyurea. Laboratory work showed persistently normal hemoglobin and white blood cell counts. All sickle cell preparations in the past were negative. Computerized tomography scan of the abdomen was reviewed and showed a spleen grossly normal in size and appearance. Given the incongruent clinical picture for sickle cell disease, repeat hemoglobinopathy evaluation with Capillary electrophoresis and confirmatory acid electrophoresis (to differentiate hemoglobins that co-migrate with Hemoglobin S) showed a probable double heterozygote for Hemoglobin D and C with suspected coexistent alpha thalassemia minor based on red blood cell indices. This case confirms the importance of the required confirmatory method to ensure a correct diagnosis since a misdiagnosis can lead to numerous adverse clinical or psychological effects for patients.
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PMID:The curious case of hemoglobin DC disease masquerading as sickle cell anemia. 3249 6


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