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

Functional asplenia develops in children with sickle cell anemia. This asplenia is related to the increased incidence of bacterial sepsis that has been documented in these patients. With the use of direct-interference contrast microscopy to quantitate splenic function, we studied children with the sickle hemoglobinopathies. A gradual increase in splenic dysfunction with increasing age was documented in children with homozygous sickle cell disease. Children with the sickle variants also seem to manifest degrees of splenic dysfunction. Direct-interference contrast microscopy is a simple quantitative technique for the evaluation of splenic function in children with the sickle hemoglobinopathies.
 ...
PMID:RBC surface pits in the sickle hemoglobinopathies. 43 77

A total of 422 patients with sickle cell disorders have been observed for 3,442 patient years. During this period, 53 episodes of septicemia or meningitis occurred, indicating a risk of 12.5% from these infections for each individual. If only patients with SS hemoglobinopathy (sickle cell anemia) (323 patients) are considered, the risk was 15.2%. The case fatality ratios for sepsis and meningitis were 35% and 10%, respectively. Disease due to Streptococcus pneumoniae occurred, almost exclusively, among children with SS hemoglobinopathy who were less than 5 years of age. After the first decade, illnesses among patients with all types of sickle cell disorders were frequently associated with an identifiable source of infection, a chronic course, and frequent involvement of Gram-negative organisms.
 ...
PMID:Bacterial meningitis and septicemia in sickle cell disease. 87 15

Sickle-cell disease is a well-recognized clinical entity. The pathophysiology of this hemoglobinopathy has been described in detail by numerous investigators since the first case report appeared in 1910. Orthopaedic manifestations of sickle-cell disease account for much of the morbidity associated with this disorder, including pain, osteonecrosis, arthritis, and sepsis. Effective management of these bone and joint sequelae reflect accurate diagnosis, understanding of this disorder's pathophysiology, and knowledge of available medical and surgical treatment alternatives. In this review, the authors summarize the major orthopaedic manifestations of sickle-cell disease with special emphasis placed upon osteonecrosis and osteomyelitis, since these conditions are the most disabling and serious complications in patients with sickle-cell disease.
 ...
PMID:Orthopaedic manifestations of sickle-cell disease. 223 15

Splenic function in sickle hemoglobinopathy syndromes was assessed to determine the developmental pattern of splenic dysfunction. Nonvisualization of the spleen using technetium-99 metastable (99mTc) spleen scans correlated strongly with pocked (vesiculated) RBCs greater than or equal to 3.5%. Cross-sectional analysis of pocked RBC data from 2,086 patients showed differences in the developmental pattern of splenic dysfunction between several disorders. In hemoglobin SS disease (sickle cell anemia) and hemoglobin S beta(0) thalassemia, splenic dysfunction (greater than or equal to 3.5% pocked RBCs) often occurred in the first 6 to 12 months of life. In hemoglobin S beta(+) thalassemia, splenic dysfunction occurred less frequently and later. Splenic dysfunction in hemoglobin SC disease (sickle cell-hemoglobin C) was intermediate. The level of pocked RBCs was inversely associated with fetal hemoglobin (P less than .007) and directly associated with age (P less than or equal to .001). These patterns of splenic dysfunction reflect the known severity of hemolysis and intravascular sickling and are consistent with the epidemiology of severe bacterial meningitis and sepsis in these diseases. Serial measurement of pocked RBCs permits determination of the onset of splenic dysfunction and the time of increased susceptibility to severe bacterial infections.
 ...
PMID:Developmental pattern of splenic dysfunction in sickle cell disorders. 241

Splenic dysfunction measured by pitted red cells (pit) was studied in hemoglobinopathies (SS-, SC-, and S beta-type thalassemias and CC-type hemoglobinopathy) in relation to age, in steady state, and during certain significant events. Our experience revealed that the pit count rose with age during steady state in most children with SS disease. A marked increase in pit count was noted in patients with CC disease. The pit count in four patients with S beta+ thalassemia remained normal (i.e., less than 3.5%) at all ages. In children with homozygous SS disease tested at the time of pneumococcal sepsis, the pit count was universally elevated. The pit count was in the normal range in one child with SS disease and osteomyelitis but was elevated in all others. All children had normal pit counts (less than 3.5%) at the onset of acute splenic sequestration crisis, and the counts remained normal during transfusion therapy. No correlation was detected between the pit count and the size of the spleen in patients under 1 year of age.
 ...
PMID:Spleen dysfunction in hemoglobinopathies determined by pitted red cells. 323 12

Newborn screening for sickle cell disease has been recommended as a method of decreasing patient mortality. However, its effectiveness in accomplishing this has not been reliably measured. To help determine the effectiveness, 10 years of experience in newborn screening have been summarized. The effects of early patient enrollment in a comprehensive treatment program on long-term morbidity and mortality are reported. From 1975 to 1985, 84,663 newborns were screened regardless of race or ethnic background. Bart's hemoglobin was present in 5%, hemoglobin AS in 2.6%, and hemoglobin AC in 0.75%. Excluding Bart's, approximately 3.6% of all newborns were carriers for hemoglobinopathy. Sickle cell disease occurred in 1:951 births (58 hemoglobin SS, 25 hemoglobin FSC, three hemoglobin S-beta +-thalassemia, and three hemoglobin S-beta O-thalassemia). In addition, one in every 4,233 newborns had a clinically significant thalassemia syndrome (eight hemoglobin FE, ten hemoglobin F only, two hemoglobin H). Compared with other newborn screening programs in California, (congenital hypothyroidism, 1:3,849; phenylketonuria 1:22,474, galactosemia 1:74,103), hemoglobinopathies are the most prevalent congenital disease. Eighty-one newborns with sickle cell disease were followed for 7.2 years. Patients experienced 513 hospitalizations, including 13 episodes of sepsis with or without meningitis and ten acute sequestration crises. The overall mortality rate for patients with sickle cell anemia diagnosed in the newborn period was 1.8%. In comparison, the clinical course of 64 patients with sickle cell anemia diagnosed after 3 months of age and followed for an average of 9.4 years was analyzed. Five of these patients died. In two of these, sickle cell anemia was diagnosed at the time of the death.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:Newborn screening for sickle cell disease: effect on mortality. 336 74

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.
 ...
PMID:Bacteremia in sickle hemoglobinopathies. 353 49

Hemoglobin SD-Los Angeles is an uncommon sickle hemoglobinopathy. We describe a boy with documented Hb SD-Los Angeles who had experienced acute splenic sequestration, pneumococcal sepsis, aplastic crisis and functional asplenia during his first two years of life. We suggest that children with Hb SD-Los Angeles are at similar risks for the life-threatening complications which characterize sickle cell anemia and should receive the same comprehensive medical care currently recommended for children with Hb SS disease.
 ...
PMID:Life-threatening complications in a child with hemoglobin SD-Los Angeles disease. 654 33

Fifty of 52 infants with cord blood hemoglobin electrophoresis patterns indicative of a possible sickling hemoglobinopathy (SH) were followed up prospectively. A retrospective group of 39 children whose mothers were contacted two to four years after the birth of a child with a positive newborn screening test formed a comparison group. During an average follow-up period of 30 months, children of mothers who were informed early of a positive cord blood test were hospitalized more readily for complications of an SH. During this same period, five (6%) of 88 infants with fetal and sickle hemoglobin (FS) or fetal, sickle, and C hemoglobins (FSC) in their cord blood died, all before 6 months of age. All five deaths occurred in infants whose parents were unaware of their child's disease; four of the five deaths may have been caused by sepsis. These results alone did not prove that screening significantly reduces mortality but did show that newborn screening increases parental awareness of complications and may, therefore, improve the prognosis in sickle cell disease in infancy.
 ...
PMID:Newborn screening for sickling hemoglobinopathies. Houston, 1976 to 1980. 669 13

Osteonecrosis secondary to sickle cell anemia and its genetic variants has many presentations depending on the age of onset and the extent of femoral head involvement. Total hip arthroplasty provides the greatest opportunity for clinical improvement of all treatment options, though early and late complication rates are high. Technical difficulties of total hip arthroplasty are related to marrow hyperplasia and the presence of sclerotic intramedullary bone. Surgical complications related to sickle cell hemoglobinopathy include vaso-occlusive crises, congestive heart failure, major transfusion reactions, intraoperative femoral fracture, femoral perforation, late aseptic loosening of acetabular and femoral components, and sepsis.
 ...
PMID:Osteonecrosis of the hip in sickle cell hemoglobinopathy. 777 53


1 2 3 Next >>