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

Patients with sickle cell disease can have a distinct retinopathy in which the posterior pole shows abnormalities, including perifoveolar vascular abnormalities. The foveal avascular zone (FAZ) was examined using fluorescein angiography in patients with sickle cell disease and in healthy normal controls. The longest FAZ diameters of 38 patients (51 eyes) with sickle cell disease were compared with those of the 48 patients (60 eyes) in the control group. The average of the longest FAZ diameter in the patients with sickle cell disease was 1.00 mm compared with 0.61 mm for the controls. This difference was statistically significant (P less than .00001). Within the sickle cell group, there were no significant differences in the FAZ diameters with respect to degree of retinopathy, type of sickle hemoglobinopathy, or visual acuity. Thus, an enlarged FAZ diameter in patients with sickle cell disease is confirmed.
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PMID:Foveal avascular zone diameter and sickle cell disease. 204 68

The authors report 4 cases of Yersinia enterocolitica (Ye) infection in patients with hemoglobin disorders (3 beta thalassemia major, 1 sickle cell anemia). Patients with hemoglobin disorders are particularly vulnerable to Ye infection. Predisposing factors consist mainly of iron overload and deferoxamine therapy; superinfection with HIV may be an additional factor. The diagnosis is performed by identifying patients at risk and by bacteriologic tests (blood and stool cultures, antibody titers). Therapy includes discontinuation of deferoxamine and initiation of an adequate antibiotic therapy.
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PMID:[Yersinia infection and hemoglobin disorder. Apropos of 4 cases]. 217 Sep 7

Patients with hemoglobinopathies can be at risk for significant maternal and fetal morbidity during pregnancy. This is especially true for those gravidas with SCD or certain thalassemia disorders. With intensive management, pregnancy outcome for these women has improved dramatically, and approximates that of the general population. Criteria for diagnosis for many of these conditions are well established. Appropriate therapeutic interventions are more controversial, but, regardless, emphasize the need for a heightened awareness of these disorders and their potential complications.
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PMID:The diagnosis and management of hemoglobinopathies during pregnancy. 218 52

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.
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PMID:Orthopaedic manifestations of sickle-cell disease. 223 15

A summer camp for children with sickle cell disease (SCD) and other hemoglobinopathies has been in operation for 22 consecutive years (1,556 camper weeks). Two thirds of the campers had sickle cell anemia (SS). With the exception of 1 year, SCD-related medical problems occurred in 10 percent of the children. Episodes of illness were increased during the year when the camp was held at a site 2,200 feet above sea level. Children with SCD can enjoy a remote, physically challenging, and emotionally enriching program. Success requires an experienced and prepared medical staff who leave the organization and "on site" management of camp activities to expert recreational professionals.
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PMID:Sickle cell disease. Summer camp. Experience of a 22-year community-supported program. 230 5

In Colorado, newborn screening for hemoglobinopathies by cellulose acetate and citrate agar electrophoresis of dried capillary blood spots was established in 1979. We reviewed the results of screening 528,711 infants through 1988. Forty-seven infants with sickle cell diseases and 27 infants with other hemoglobin diseases were identified. The initial screening failed to detect sickle cell anemia in 4 infants, but the hemoglobinopathy in 3 of these infants was diagnosed correctly by routine retesting of those with suspected sickle cell trait. A total of 47 infants with sickle cell diseases were followed through September 1989. There was no mortality among these infants. The screening test identified 3779 infants (1:140 births) with a suspected hemoglobin trait; confirmatory retesting was obtained in 53%. The results of our experience confirm the value of newborn screening for hemoglobinopathies but suggest that a more sensitive test would improve the program.
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PMID:Newborn screening for hemoglobinopathies in Colorado. The first 10 years. 232 11

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.
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PMID:Developmental pattern of splenic dysfunction in sickle cell disorders. 241

Extramedullary hematopoiesis (EMH) is observed in people suffering from severe anemia of prolonged duration and appears to be a compensatory mechanism for disturbed medullary hematopoiesis. The hemoglobinopathies (such as thalassemia, spherocytosis, and sickle cell disease), neoplastic diseases such as leukemia and lymphoma, and others, including myelofibrosis and osteitis fibrosa cystica, are associated with EMH. These diseases and their resultant anemia have in common the ability to stimulate erythropoietin production, which in turn may stimulate hematopoiesis in organs of mesenchymal origin. The liver and spleen are the most common sites of EMH; however, other sites, including the falx cerebri, thoracic cavity, retroperitoneal area and pelvis have been reported. When present, intrathoracic EMH is most frequently associated with thalassemia. Spinal cord compression and hemothorax have also been reported as complications of intrathoracic EMH.
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PMID:Asymptomatic intrathoracic extramedullary hematopoiesis: a report of three cases. 262 Nov 1

The authors report 10 cases of Hb C Ziguinchor share out in 3 features ACz, SCz, Cz-PHHF (HPFH: hereditary persistence of foetal hemoglobin). The clinical and hematological study of the features has allowed the following conclusions: the Hb Cz is a rare mutant specific of the Negro and which original focus may be in Senegal. The heterozygote form (ACz) does not present any clinical manifestation. The association Hb S-Hb Cz brings about a serious hemoglobinopathy which has clinical and hematological features like the sickle cell disease (SS). The association Hb Cz-HPFH is relatively supported in spite of episodic painful crisis.
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PMID:[Clinical and hematological profile of hemoglobin C Ziguinchor (Cz) in Western Africa]. 262 19

Despite genetic differences, patients with S-beta zero thalassemia or sickle cell anemia present several clinical and hematological similarities. In this study we present evidence that they can also show similar immunological profiles. Both hemoglobinopathies exhibited increased total lymphocyte counts as well as B, CD4 and CD8 lymphocyte subset counts. The CD4/CD8 ratio and the determination of the activity of antibody-dependent cellular cytotoxicity were within the normal range for patients with both diseases. The levels of IgG and IgA were also increased for both conditions, but the amount of factor B of the complement system was elevated only in sickle cell anemia patients.
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PMID:Immunological studies in sickle cell-beta zero thalassemia. Comparison with sickle cell anemia. 262 34


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