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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The Cooperative Study of Sickle Cell Disease (CSSCD) is a multiinstitutional investigation of the natural history of clinical course of sickle cell disease from birth through adulthood. The study is not a trial; rather, it involves data collection at 23 institutions in a uniform, standardized fashion on 3800 patients. Recruitment aspects that were addressed include issues related to recruitment of different age groups, ranging from newborns to pregnant women to patients over 50 years of age; the need to include mildly affected patients to ensure that the study would not reflect only a severe hospital-based population; recruitment from rural populations; and the need to screen and enter a newborn population at birth. The recruitment goal of entering 3200 patients, including 2100 patients with SS hemoglobinopathy, over a 24-month period was accomplished after 27 months.
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PMID:Recruitment in the Cooperative Study of Sickle Cell Disease (CSSCD). 344 Mar 86

Hematologic malignancy has rarely been reported in adults with sickle cell disease. We describe four sickle cell patients (two with hemoglobin SC, two with hemoglobin SS) who developed hematologic malignancy (acute myeloblastic leukemia, multiple myeloma, malignant histiocytosis, and Hodgkin's disease). Three of the cases represent the first adult association between SC or SS hemoglobinopathy and the particular malignancy involved. Sickle hemoglobin does not appear to exert a protective effect against childhood hematologic malignancies, suggesting that better survival in sickle cell disease may be accompanied by an increased incidence of hematologic neoplasms in adulthood. Karyotypic analysis revealed alterations of chromosome 5 in two sickle cell patients with leukemia, raising the possibility of a chromosomal link between the two diseases. Further epidemiologic and cytogenetic studies are needed to define the relationship between hematologic malignancy and sickle cell disease.
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PMID:Hematologic malignancy in sickle cell disease: report of four cases and review of the literature. 345 91

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

The interactions of normal erythrocytes and erythrocytes from patients having hemoglobin S hemoglobinopathies with normal human endothelial cells (EC) were investigated under flow conditions. When EC supernatant, containing 2.8-11.0 U/dl of von Willebrand factor (vWF) antigen and vWF multimeric forms larger than those present in normal plasma, was the red blood cell (RBC)-suspending medium instead of serum-free medium (SFM), the adhesion of sickle RBC, but not normal RBC, to endothelial cells was greatly increased (range of enhancement of sickle RBC adhesion, 2- to 27-fold). Adhesion of sickle RBC to endothelial cells was reduced to near serum-free levels when EC supernatant was immunologically depleted of vWF forms. Sickle RBC suspended in SFM containing 200 U/dl of purified vWF multimers of the type found in normal human plasma or 300 micrograms/ml human fibronectin were only slightly more adhesive to endothelial cells than sickle RBC suspended in SFM alone. These data indicate that unusually large vWF multimers produced by endothelial cells are potent mediators of the adhesion of sickle erythrocytes to endothelial cells. Vaso-occlusive crises in sickle cell anemia may be caused, at least in part, by adhesive interactions between the abnormal surfaces of sickle RBC and the endothelium after the release of unusually large vWF multimeric forms from stimulated or damaged endothelial cells.
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PMID:Unusually large von Willebrand factor multimers increase adhesion of sickle erythrocytes to human endothelial cells under controlled flow. 349 53

We analyzed 178 episodes of bacteremia that occurred during 13,771 patient-years of follow-up of 3451 patients with sickle hemoglobinopathies. Age-specific incidence rates of bacteremia were calculated for patients with sickle cell anemia (SS) and sickle cell-hemoglobin C (SC) disease. The incidence rate was highest among children with SS and SC younger than age 2 years. Children with SC showed an abrupt decrease after age 2 years, whereas children with SS had a gradual decline in rate from 2 to 6 years of age. The predominant pathogen in patients younger than 6 years was Streptococcus pneumoniae (66%); gram-negative organisms were responsible for 50% of bacteremias in patients 6 years and older. Urinary tract infection was present during 73% of Escherichia coli bacteremias, and 77% of Salmonella bacteremias were associated with osteomyelitis. In contrast, no focus of infection was present in 52% of pneumococcal bacteremias. The incidence of pneumococcal bacteremia in children with SS younger than age 3 years was 6.1 events/100 patient-years; the case fatality rate for pneumococcal sepsis in this age group was 24%. No hematologic or demographic variables were associated with occurrence of pneumococcal bacteremia in young children. Retrospective analysis of pneumococcal bacteremia suggests that the prophylactic use of penicillin may decrease the incidence in children younger than 3 years of age.
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PMID:Bacteremia in sickle hemoglobinopathies. 353 49

Impairment of red cell deformability (and decrease of survival time) is the common trait of congenital haemolytic anemias with the exception of the enzyme defect glucose-6-phosphate-dehydrogenase (GPDH) deficiency. Causes for increased red cell rigidity may be: spherocytosis (familial hemolytic anemia), instable less fluid Hb (instable hemoglobinopathy), abnormal HbS-formation (sickle cell disease), genetic synthesis defect of Hb chains (homozygous beta-thalassemia), enzyme defects (autosomal recessive pyruvate-kinase deficiency). With GPDH red cell deformability remains unchanged. Splenectomy may be beneficial in anemias with erythrocyte rigidification if clinical condition so requires (repeated transfusions, aplastic and hemolytic crises). Assessment of red cell deformability in vitro saves laborous and exposure to radiation involving testing of cell survival time (e.g. radiochrome test).
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PMID:[Reduced deformability of erythrocytes as a common denominator of hemolytic anemias]. 354 86

Results of the Veterans Administration Sickle Cell Program for a period of 10 years are presented. We screened 370,250 patients; 404,341 attended educational sessions, and 38,347 had individual counseling sessions. Sickle cell trait was present in 6.4% of patients, and HbC trait was present in 1.8%. The clinically significant disorders HbSC disease, sickle cell anemia, and sickle beta thalassemia were present in 0.41% of individuals screened. A large number of uncommon variants were detected. The program enhanced the awareness of and the approach to evaluation of hemoglobinopathies.
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PMID:Screening for sickle cell trait: the Veterans Administration National Sickle Cell Program. 355 91

Two adolescent black females with sickle cell disease who developed systemic lupus erythematosus (SLE) are presented. The recognition of SLE was delayed because all new symptoms were initially attributed to their underlying sickle cell disease. Nine similar cases have been previously reported. The hypothesis that a deficiency of the alternative complement pathway in some patients with sickle hemoglobinopathies predisposes them toward immune complex disorders was not confirmed in our study. Our first patient had normal and our second increased activity of the alternative pathway of complement activation.
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PMID:Systemic lupus erythematosus and sickle hemoglobinopathies: a report of two cases and review of the literature. 360 68

Mitogen induced lymphoproliferative responses and lymphocyte sub-populations were studied in a group of sickle cell disease (SCD) patients with homozygous SS hemoglobinopathy. Even though the response to a sub-optimal dose of Con A (0.5 microgram/ml of culture) was significantly decreased in patients with SCD, the proliferative responses to optimal doses of Con A, to PHA and to PWM were preserved in the patients. Addition of indomethacin to the cultures increased to a more significant degree the response to Con A of lymphocytes from patients than from the normal controls. Study of the mononuclear cell subsets indicated that the relative and absolute numbers of B lymphocytes as well as those of monocytes were significantly increased in the patients' group. The percentage of T3+ lymphocytes was found decreased in SCD. However, a rise in the number of T11+ and T4+ lymphocytes as well as in the helper/suppressor cell ratio was observed in the patients as compared to controls.
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PMID:Mitogen induced lymphoproliferative responses and lymphocyte sub-populations in patients with sickle cell disease. 361 55

Sickle cell anemia and other hemoglobinopathies represent a major health problem in the United States. In April 1987 several federal agencies sponsored a National Institutes of Health Consensus Development Conference to discuss the issues involved in diagnosing and treating some of the major hemoglobinopathies in infants. This report summarizes the consensus panel's answers to the following questions considered by the conference participants: 1) are newborn screening programs for sickle cell anemia effective in reducing morbidity and mortality?, 2) what are the current screening techniques and their efficacies?, 3) what are the risk/benefit considerations in newborn screening programs?, 4) once infants with hemoglobinopathies have been identified, what are the optimal follow-up and management strategies?, and 5) what directions should research follow?
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PMID:Consensus conference. Newborn screening for sickle cell disease and other hemoglobinopathies. 362 4


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