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)

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

The United States Preventive Services Task Force has provided an evidence-based guideline indicating that bone mineral density (BMD) testing is appropriate for all women aged 65 or older. This does not preclude BMD testing in younger postmenopausal women but places the onus on the treating physician to justify the procedure to the patient and often the patient's insurance carrier. There are very few circumstances in which BMD testing is appropriate for healthy premenopausal women, but BMD testing in younger postmenopausal women is often appropriate: when there is a family history of osteoporosis with fracture, a personal history of fracture as an adult, and a medical, surgical or therapeutic history that might be associated with accelerated bone loss or increased risk of fracture. Medical conditions include intestinal diseases associated with malabsorption, such as non-tropical sprue, or primary hyperparathyroidism. Women who have neurologic conditions that increase the risk of falling should also be tested. There are data to suggest that patients with hemoglobinopathy are at increased risk for osteoporosis. Surgical conditions include the increasingly performed surgery for obesity and other surgery resulting in bowel resection (e.g., for inflammatory bowel disease). The major medication-related concern is corticosteroid therapy, but chronic or over-treatment with thyroxine, and chronic heparin therapy, should also be considered risk factors for osteoporosis. When performing a BMD test for the first time, it is essential to remember that 50% of women at menopause will have a negative T-score, but this does not imply that the patient has indeed lost any bone from her peak bone mass.
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PMID:Is BMD testing appropriate for all menopausal women? 1633 12

About 7% of the adult population has subclinical cobalamin (B12) deficiency. Subjects with sickle cell disease (SCD) may be at higher risk of cobalamin deficiency because of increased demand, inadequate supply, coexisting folate deficiency or malabsorption. We compared the clinical and laboratory characteristics of low serum cobalamin levels in patients with SCD with those patients without this hemoglobinopathy (non-SCD). Between 1993 and 2003, 105 SCD patients and 112 non-SCD patients who had serum cobalamin measurements were identified at our institution. The mean cobalamin level in SCD patients was significantly lower (496 +/- 352 pg/ml) than that in patients without SCD (869 +/- 660 pg/ml, p<0.0001). The frequency of low cobalamin levels, defined by a serum cobalamin level of <200 pg/ml, was 18.1% (19/105) and 9.8% (11/112) in SCD and non-SCD patients, respectively (chi2=3.11, nonsignificant). The mean age of the low-cobalamin SCD and non-SCD patients was 28.1 and 62.9, respectively, and their male:female ratios were 11:8 in SCD patients and 2:9 in non-SCD patients. None of the SCD patients had neurological manifestations, but nine of the 11 non-SCD low-cobalamin level patients did. The proportion of SCD patients with unexplained low cobalamin levels (13/19) was higher than that in non-SCD patients (4/11, chi2=2.92, nonsignificant) Our data suggest that cobalamin levels are lower in SCD patients than in subjects without SCD, and low-cobalamin SCD patients are younger and more likely to be males.
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PMID:Low cobalamin levels in African Americans with and without sickle cell disease. 1657 98