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)

Fundus changes in sickle cell disease are well studied and documented according to their clinical and angiographic aspects. Sickle cell retinopathy was studied in a Brazilian population of 63 patients (41 with SS hemoglobinopathy, and 22 with SC hemoglobinopathy). All ophthalmoscopic changes observed in our patients were more frequent in the SC group with the exception of atrophic retinal tears, found only in the SS group. Proliferative retinopathy including its complications was seen in 54.54% of the eyes of the SC group, and in only 14.64% of the eyes of the SS group. Decreased vision is consequently greater in the SC group. Despite the great frequency of funduscopic changes in both groups, only 1 patient suffered irreversible visual loss due to retinal detachment operated on without success.
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PMID:Funduscopic alterations in SS and SC hemoglobinopathies. Study of a Brazilian population. 318 5

We examined the zinc status of 80 children with sickle cell disease (SCD) and 44 disease-free sibling controls aged 3 to 18 years. For both patients and controls, variations in serum zinc by age, type of hemoglobinopathy, and growth status were measured. The mean serum zinc concentration of patients was significantly lower than for controls (77.8 +/- 9.9 vs. 82.2 +/- 9.8 micrograms/dl, mean +/- 1SD, P less than .05). Serum levels of alkaline phosphatase (AP) and retinol-binding protein (RBP), two zinc-dependent proteins, were also lower among patients (AP: 171 +/- 66 vs. 243 +/- 97 IU/L, P less than .001; RBP: 1.92 +/- .9 vs. 2.77 +/- .9 mg/dl, P less than .001). Patients greater than or equal to 12 years of age (n = 34) had significantly lower zinc levels than those less than 12 years (74.5 +/- 8.4 vs. 80.3 +/- 10.3 micrograms/dl, P less than .01), and children with homozygous SCD (Hb SS, n = 55) had a more pronounced deficiency than those with a variant hemoglobinopathy (76.3 +/- 8.9 vs. 81.5 +/- 11.5, micrograms/dl, P less than .05). Patients classified as having "poor" growth (height-for-age less than 5th percentile, n = 24) had a lower serum zinc level than those with "normal" growth (72.8 +/- 8.0 vs. 79.8 +/- 10.0 micrograms/dl, P less than .01). Dietary intake data, body mass index, and serum total protein and albumin levels were similar for patients and controls, suggesting that zinc deficiency in SCD does not relate to inadequate dietary intake. The origin of low serum zinc levels in children with SCD is more likely to relate to factors such as increased urinary zinc excretion, chronic intravascular hemolysis, and/or zinc malabsorption.
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PMID:Zinc status of children with sickle cell disease: relationship to poor growth. 318 4

Since considerable expansion of hematopoietic marrow occurs in patients with sickle cell anemia (SCA), magnetic resonance images of 20 hips in 10 patients with known homozygous SCA were reviewed to determine a) if low signal hematopoietic marrow extended into the femoral capital epiphysis and b) if the MR characteristics of avascular necrosis (AVN) differed depending on the type of epiphyseal marrow. Our results revealed variable epiphyseal marrow type; mixed (fatty and hematopoietic) marrow (42%), fatty marrow (32%), hematopoietic marrow (16%) and hemosiderotic marrow (10%). AVN occurred irrespective of the underlying marrow. Segmental areas of low signal intensity in variable shapes (ring, band, crescent or large homogeneous area) was the most consistent MR manifestation of AVN in SCA. A low signal intensity peripheral rim surrounding a central zone, isointense with epiphyseal marrow on T1 and T2 weighted images, was most frequently observed similar to that described in patients without hemoglobinopathy. The notable difference, however, was of segmental areas within the same femoral head that demonstrated variable central zone signal on T2 weighted images. Further, while an increase in hip joint fluid is commonly seen with both early and advanced AVN in patients without hemoglobinopathy; it was increased in only one hip in patients with SCA. The observed differences in MR characteristics may be due to different pathophysiology of AVN in patients with SCA.
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PMID:Femoral head avascular necrosis in sickle cell anemia: MR characteristics. 321 Sep 9

Haemophilus influenzae type B vaccine is recommended for children 1.5 to 6 years of age with sickle cell anemia, but the adequacy of their response is unknown. A total of 69 children with sickle cell syndromes, 1.5 to 5.6 years of age, were immunized with two vaccines alternatively, single blind. PRP vaccine was given to 36 children and a diphtheria toxoid conjugated vaccine, PRP-D, was given to 36. Coded pre- and postvaccine sera were tested by radioimmunoassay for anti-PRP antibody. The groups did not differ in age distribution or type of sickle hemoglobinopathy. Preexisting antibody levels were low in both vaccine groups; 65% were less than 0.15 microgram/mL. The vaccines were safe but associated with frequent minor reactions. PRP-D gave higher geometric mean titers and mean fold titer increase than PRP in all children (15.58 micrograms/mL [234-fold] v 2.63 micrograms/mL [29-fold]) and in the subgroups 1.5 to 2.5 years of age or with pretiter values less than 0.15 microgram/mL. Titers for 64% of children receiving PRP and 94% receiving PRP-D were greater than or equal to 1.0 microgram/mL. Thus, both vaccines were useful in this population, but PRP-D was more immunogenic. Duration of antibody levels postvaccination, booster responses, and PRP-D immunogenicity in younger children with sickle cell syndromes all require further study.
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PMID:Haemophilus influenzae type b immunization of children with sickle cell diseases. 326 57

The amount and activity of superoxide dismutase (SOD) (EC 1.15.1.1) were measured in red cells collected from 50 white controls, 101 black controls, 50 patients with sickle hemoglobin (SS Hb), 12 with sickle trait, and 11 with other sickling hemoglobinopathies. Red cells from normal black subjects had more SOD amount and activity than normal whites (1.77 U/mg Hb and 2.96 micrograms/mg Hb vs. 1.47 U/mg Hb and 2.64 micrograms/mg Hb, respectively) or blacks with SS Hb or other sickling hemoglobinopathies. Patients with more severe manifestations of SS Hb had lower levels of SOD activity than those with milder symptoms but had the same amount of enzyme protein. Individuals with sickle trait had amounts and activities of SOD comparable to black controls. An alteration in defense to free radical oxygen may play a role in the severity of symptoms experienced by patients with homozygous sickle cell disease.
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PMID:Altered amount and activity of superoxide dismutase in sickle cell anemia. 335 Feb 36

Carbamylation of the hemoglobin in sickle cell anemia has been demonstrated to improve the status of this hemoglobinopathy. Using an animal model of West African human patterns of chronic sublethal dietary cyanide ingestion, 12 miniature swine consuming either 0, 0.4, 0.7, or 1.2 mg of cyanide/kg body weight/day were studied for 24 weeks to determine if this dietary regime could produce irreversible carbamylated hemoglobin. Throughout the study, the hematological status of all animals remained similar; however, the levels of carbamylated hemoglobin as measured by nanomoles of valine hydantoin varied proportionally to dietary sublethal cyanide intakes, indicating that these natural dietary levels could effect an important and presumably permanent modification of the hemoglobin's beta chain. Serum thiocyanate levels were also positively correlated with cyanide ingestion loads (r = 0.83, P less than 0.01). The implications of these findings in swine are important for the millions of humans with hemoglobin S who regularly consume similar levels of dietary cyanide and for our assessments of the biochemical and medical status of hemoglobin S under natural conditions.
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PMID:Carbamylation of hemoglobin in vivo with chronic sublethal dietary cyanide: implications for hemoglobin S. 335 17

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)
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PMID:Newborn screening for sickle cell disease: effect on mortality. 336 74

The authors investigated the incidence of thalassemia traits and hemoglobinopathies in western Liguria, where up to 70% of people comes from other italian regions, particularly from the South. The authors screened 442 primary school pupils in Albenga and Andora (Savona). Laboratory investigations permitted to detect 19 thalassemia trait carrier subjects (4.30% of the total examined): 12 of them were diagnosed heterozygous for beta-thalassemia, 6 for alpha-thalassemia, and 1 for Hb S. Authors would underline that more than half of the screening positive subjects resulted carrier of beta-thalassemia or Hb S trait, both potentially able to give origin to severe diseases: homozygous beta-thalassemia, sickle cell anemia, and beta-thalassemia/Hb S double heterozygosity.
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PMID:[Epidemiologic research for thalassemia and hemoglobinopathy traits in the territory of a local health unit in Liguria]. 337 29

Twenty-seven children with major sickle hemoglobinopathies underwent elective cholecystectomy for cholelithiasis. All were managed with a preoperative transfusion regimen to achieve a hemoglobin concentration of 11-14 g/dl with greater than 65% hemoglobin A. Intraoperative cholangiography revealed common bile duct stones in five patients, although only one case was diagnosed by preoperative ultrasonographic examination. Twenty-four children underwent incidental appendectomy by total intussusception. There were no vaso-occlusive events nor any other perioperative morbidity or mortality. Four months after cholecystectomy, one boy had a small bowel obstruction requiring surgical re-exploration. No patients had transfusion-acquired infection, although one boy had erythrocyte allosensitization to Lewis A antigen. This preoperative transfusion regimen and careful perioperative management permits safe elective cholecystectomy in children with sickle cell disease.
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PMID:Elective cholecystectomy in children with sickle hemoglobinopathies. Successful outcome using a preoperative transfusion regimen. 338 43

It is difficult to recognize and treat the factors that exacerbate the vascular crises of sickle cell disease. We describe a 12-year-old black girl with sickle cell anemia who, since the age of 9 years, has been repeatedly hospitalized for pain associated with vaso-occlusive disease. A diagnosis of obstructive sleep apnea was suggested by the history and physical examination and was confirmed by polysomnography. Following preoperative transfusion, the patient underwent elective tonsillectomy and adenoidectomy. She has been free of vaso-occlusive pain and crises for over two years and has not been hospitalized since her surgery. Post-operative polysomnography has shown no evidence of obstructive sleep apnea. It is our hypothesis that repeated oxygen desaturation during periods of obstructive sleep apnea was the cause of this patient's frequent vaso-occlusive crises. She not only obtained complete relief of her symptoms, but objective sleep study measurements were normal following surgery. Obstructive sleep apnea is a recent diagnosis, and its pathologic effects are only beginning to be known. Physicians taking care of patients with hemoglobinopathies need to be aware of possible contributing factors to their patients' disease, and an aggressive approach to their diagnosis and possible relief should be sought.
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PMID:Exacerbation of sickle cell disease by obstructive sleep apnea. 339 Mar 38


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