Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P02794 (ferritin)
 17,525 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We designed a study to obtain follow-up on behavioral aspects of compliance with home deferoxamine administration, explore social factors that might influence compliance, and evaluate the effectiveness of a pilot intervention program for patients with thalassemia or sickle cell disease who were receiving chronic transfusion therapy. Thirty-one patients between the ages of 6 and 21 years and their primary caregivers were administered a 24-hour recall Interview about home care. Fifteen went on to participate in a Desferal Day Camp, which combined educational strategies with peer support. Behavioral measures of treatment adherence were similar for most patients with sickle cell disease and thalassemia. Patient compliance with days of deferoxamine administration at follow-up was associated with initial compliance, perceived support, and patient and caregiver knowledge. Increased sharing of responsibilities for home care by patients and caregivers and caregiver knowledge were associated with lower ferritin and liver iron levels. A subsample of 3 patients who were extremely noncompliant with days of deferoxamine administration was examined separately; these patients were found to be moderately compliant with the number of hours and amount of deferoxamine administered and to share fewer home care tasks with primary caregivers. Participation in Desferal Day Camp did not result in increases in knowledge or peer support, suggesting that future interventions should focus on family support and on improving self-regulatory skills. The crucial role of collaboration among patients, families, and health care providers in developing interventions to enhance adherence was emphasized.
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PMID:Improving adherence with deferoxamine regimens for patients receiving chronic transfusion therapy. 1120 66

Recently, it has been reported that serum zinc binding capacity (ZnBC) is a very important criterion to evaluate body zinc (Zn) status. It has been shown that chronic Zn deficiency occur in the patients with thalassemia major (TM). Zn deficiency in TM may cause hyperzincuria, high ferritin levels, hepatic iron load, hepatic dysfunction. This study was undertaken to determine serum Zn levels and ZnBC in different thalassemia forms and sickle cell disease (SCD). The study has been carried out on 30 Thalassemia Major (TM), 34 Thalassemia Intermedia (TI), 31 Thalassemia Trait (TT) and 10 SCD. As control group,13 healthy children and 20 adults were included. Serum Zn and ZnBC were determined by atomic absorption, then saturation index (SI%: serum Zn/ZnBC x 100) was calculated. Serum Zn levels in all patients were lower than control (p < 0.01). Serum ZnBC was at a normal level in patients with TT and TI but it was found to be lower in TM and SCD than control (p < 0.01). While serum Zn levels decrease and ZnBC increase in nutritionaL Zn deficiency, serum Zn levels decrease but ZnBC doesn't increase in patients with thalassemia.
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PMID:Serum zinc levels and zinc binding capacity in thalassemia. 1178 92

We investigated the prevalence of positive viral hepatitis titres in sickle cell disease (SCD) and the relationship of abnormal liver function tests (LFTs) to transfusions and ferritin levels. Charts from 141 patients with SCD were reviewed and recent laboratory data on serum ferritin, hepatitis serology, units of packed red blood cells transfused and LFTs were collected. Hepatitis B core antibodies were positive in 14% of patients (12/86) and Hepatitis C viral antibody titres were positive in 16.5% (15/91). There was a relationship of positive serologies to transfusion for hepatitis C virus (HCV), but not for hepatitis B virus (HBV). Hepatitis C antibody negative (HCVAb-) patients had fewer packed red blood cells (pRBC) transfused than Hepatitis C antibody positive (HCVAb+) (6.4 vs. 20.3, P=0.08). Patients with ferritins < 500 ng/ml compared to those with > 1000 ng/ml also showed a difference in units transfused (P < 0.003). Steady state LFTs, with the exception of alkaline phosphatase, had no relationship to serum ferritin or hepatitis serologies. Males were twice as likely to have positive serology as females but more females had elevated ferritin levels. Paired analysis of LFTs in steady state and crisis failed to demonstrate deterioration during crisis. We conclude that: (1) there is a relationship of positive Hepatitis C serology, but not Hepatitis B serology, to transfusion; (2) ferritin levels correlate with transfusion number but not with LFTs; (3) in our population, LFTs in SCD are usually normal and do not increase in vaso-occlusive crises.
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PMID:Liver function tests in sickle cell disease. 1184 94

Caution is called for in providing family planning counseling and contraceptive prescriptions for women with hematological disorders. Iron deficiency anemia is a common problem among women of reproductive age. During menstruation women's need for iron intake is 3 times that of men. Oral contraceptives (OCs) are an appropriate contraceptive choice for iron deficiency anemia patients since OCs are associated with reduced blood loss during menstruation. Most IUDs, and especially unmedicated and copper bearing devices, should not be used by women with iron deficiency anemia. Progestin releasing IUDs tend to increase hemoglobin and serum ferritin levels, therefore, patients with iron deficiency anemia may benefit from progestin releasing IUD insertions. Women with hemorrhagic disorders, such as hemophilia, purpuras, and platelet number and function disorders frequently experience menorrhagia. OCs are an appropriate contraceptive for many patients with these disorders. Several studies indicate that patients with hemorrhagic disorders frequently experience reduced bleeding problems when they use OCs. IUDs are contraindicated for women with hemorrhagic diseases because IUDs may increase blood loss. Women with sickle cell hemoglobinopathies need careful counseling. Pregnancy for these women entails high morbidity and mortality risks. Series data shows that pregnant women with sickle cell hemoglobinopathies have a 4%-100% risk of maternal morbidity and a 1%-35% risk of maternal mortality. The risk of maternal morbidity and mortality is equally high for women with hemoglogin sickle cell disease but somewhat lower for women with sickle cell thalassemia. Women with these diseases should be informed about the risks associated with pregnancy. These patients may want to consider sterilization. Oral and IUD contraceptives are contraindicated for patients with these disorders; the former, because it may have a thromboembolic effect, and the latter, because it is associated with high blood loss. There are some reports that progesterone protects against sickling, but more intensive studies must be undertaken before progesterone can be recommended for women with sickle cess disorders. If patients insist on using an OC, a minipill may be prescribed. Barrier methods are probably the best choice for sickle cell disorder patients.
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PMID:Patients with hematologic disorders need careful birth control counseling. 1226 20

Sickle cell anemia (SCA) is an inherited disorder of hemoglobin synthesis that is characterized by life-long severe hemolytic anemia, attacks of pain crisis, and chronic organ system damage. A third of the hemolysis in SCA is intravascular and the resulting urinary losses of iron may lead to iron deficiency. There is no evidence of iron overload in SCA and iron deficiency may be more common than suspected, especially in men. Absence of bone marrow iron remains a gold standard for the diagnosis of iron deficiency in these patients. Although low serum ferritin is highly specific for the diagnosis of iron deficiency, its sensitivity is quite low in SCA because of non-specific elevation due to increased red cell turnover. The kinetics of sickling is strongly concentration dependent such that small decreases in the mean corpuscular deoxyhemoglobin-S concentration (MCHC-S) cause a substantial delay in sickle hemoglobin polymerization. Prolongation of the "delay time of gelation" in excess of the capillary transit time may allow the erythrocyte to traverse the capillary bed to escape to the arterial side before there is rheologic impairment of the erythrocyte from polymerization of sickle hemoglobin. Overt iron deficiency lowers the MCHC-S and thereby decreases the sickling tendency and the severity of hemolysis. The clinical improvement in SCA following the induction of iron deficient erythropoiesis by repeated phlebotomies or by erythrocytapheresis has been reported. Prospective controlled studies are needed to evaluate further, the therapeutic strategy of inducing controlled iron-deficient erythropoiesis in selected patients with SCA.
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PMID:Iron in sickle cell disease: a review why less is better. 1270 Nov 23

Cardiac T2* (magnetic resonance imaging relaxation parameter) is abnormally low in approximately 40% of adults with thalassemia major (TM), suggesting myocardial iron deposition, but it is unknown at what age this occurs. To address this question, we measured cardiac T2* and function in 19 young patients (aged 7-26 years) with TM as well as 17 patients receiving long-term transfusions for sickle cell anemia (SCA) matched for age, sex, and liver iron content. Cardiac T2* was normal in all of the SCA patients but was low (high iron) in 8 of 19 TM patients. Abnormal T2* was observed only in the TM patients receiving transfusions for 13 years or longer and was correlated with ferritin but not liver iron levels. Cardiac dysfunction was present in 3 of the 8 patients with low T2*. Cardiac T2* changes have a long latency relative to liver iron accumulation. Total transfusional burden is a significant independent risk factor for low cardiac T2* and may partially account for differences observed between patients with SCA and TM.
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PMID:Myocardial iron loading in transfusion-dependent thalassemia and sickle cell disease. 1463 Aug 22

Three polymorphic gene mutations in the human hemochromatosis (HFE) gene (C282Y, H63D, S65C) are associated with non-transfusion-related iron overload in Caucasians. More recently, these mutations have also been identified in African-Americans. However, the prevalence of HFE gene mutations in African-Americans with sickle cell disease (SCD) has not been described. The presence of these mutations in this population is particularly important, because patients with SCD may be placed on chronic red cell transfusion therapy and are thus at further risk for iron overload. Thus, we attempted to establish the gene mutation prevalence in African-Americans with SCD, to compare this frequency with published gene frequencies in African-Americans, and to evaluate their significance with regard to transfusion-related iron overload. Eighty-nine African-American patients with SCD, all of whom were receiving chronic red cell transfusion therapy, were screened by DNA analysis for the three HFE gene mutations. Two patients were heterozygous for the C282Y HFE mutation (2.3%), six were heterozygous for the H63D mutation (6.8%), none carried the S65C mutation (0.0%), and no homozygous or compound heterozygous subjects were identified. The prevalence of C282Y and H63D in the SCD population was similar to that observed in the general African-American population. In addition, there was no increased mutation prevalence when comparing those SCD patients on chronic transfusion therapy who had ferritin levels greater than 2,500 ng/mL and those less than 2,500 ng/mL. This study represents the first identification of the known HFE gene mutations by DNA analysis in the SCD population. We conclude that the presence of recognized HFE coding region mutations do not seem to have an impact on the degree of iron overload in patients with SCD receiving chronic transfusion therapy.
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PMID:Identification of hemochromatosis gene polymorphisms in chronically transfused patients with sickle cell disease. 1463 4

Efforts have been undertaken to find an alternative approach to packed red cell transfusion (PRCT) in major beta-thalassemia. Augmentation of fetal hemoglobin (HbF) by hydroxyurea (HU) has been reported to be less effective in this condition as compared to sickle cell anemia due to molecular heterogeneity of the former disease. HU efficacy and its relation to Xmn1 polymorphism and IVSII-1 mutation was evaluated in major beta-thalassemics. Forty-five patients, M/F ratio 0.8, aged 6-33 years, received oral HU, 20 mg/kg per day, 4 days per week and daily1 mg folic acid. Thirty-six patients were PRCT dependent (group A) and nine independent (group B). The aim was to stabilize or increase pre-PRCT Hb over 10.0+/-0.5 g/dl and to reduce the need or cease the PRCT in group A and to increase Hb level and curb the ineffective erythropoesis, e.g., splenomegaly, facial bone deformity, in group B. HU was administered for at least 6 months (mean: 9 months) and discontinued in case of response failure. Screening for Xmn1 polymorphism and IVSII-1 mutation was carried out in most patients. In group A, 25 patients have become PRCT independent for a period of 2.5-7.3 years (mean: 4 years). The mean Hb, pre-HU 10.0 and post-HU 10.7 g/dl (range: 8.8-13.7 g/dl), mean serum ferritin pre- and post-HU was1877 and 525 ng/ml. The PRCT requirement was reduced in one patient, and ten patients did not respond. In group B HU has been given over 3.3 years (range: 2.8-4.8 years), Hb increased from 9.3 to 10.4/dl, and there was no tangible progression of ineffective erythropoesis. Responders in both groups expressed more comfort with this regimen. Xmn1 and IVSII-1 (homo- and/or heterozygosis) are relevant markers in most responding patients. Molecular determination of genetic markers in early childhood will help to identify candidates for pharmacological HbF switching by HU.
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PMID:Hydroxyurea in the treatment of major beta-thalassemia and importance of genetic screening. 1472 38

Magnetic resonance imaging (MRI) appears to be useful for monitoring iron overload in thalassaemia. We studied 106 patients with beta-thalassaemia: 80 with thalassaemia major (TM) and 26 with thalassaemia intermedia (TI). Thirty-five patients with sickle cell disease (SCD) were also evaluated. Serum ferritin, liver and myocardial T2-relaxation time and liver iron concentration (LIC) were measured. LIC values, based on biopsies from 29 patients, showed a close inverse correlation with the respective liver T2-values, along with a strong positive correlation with ferritin levels in all patients. Heart T2-values correlated with left ventricular ejection fraction in TM and SCD, but not in TI patients. Both liver and heart T2-values were significantly lower in TM patients than those of TI, and SCD patients. Ferritin levels showed a strong correlation with liver T2-values in all three groups of patients. Similarly, a negative correlation was found between serum ferritin levels and heart T2-values in TM, but not in TI and SCD patients. Heart and liver T2-values showed a significant correlation only in TM patients. These results suggest that the MRI technique (T2 relaxation time) used in our study, is a reliable, safe and non-invasive method for the assessment of the deposition of iron in the liver; results for the heart become reliable only when there is heavy iron deposition.
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PMID:Magnetic resonance imaging in the evaluation of iron overload in patients with beta thalassaemia and sickle cell disease. 1532 28

Sickle-beta(+) (beta(+)) thalassemia is a double heterozygous genetic disorder characterized by both a qualitative and quantitative abnormality. We present a case of an African American male who was first diagnosed with sickle cell disease (SCD) at the age 23 years when he presented with generalized bone pain, fever, and hepatosplenomegaly. Laboratory findings included thrombocytopenia, microcytic anemia, and markedly elevated ferritin. He was subsequently diagnosed with a sickle-beta thalassemia hemoglobinopathy. Findings in the bone marrow aspirate and biopsy were consistent with hemophagocytic lymphohistiocytosis (HLH). HLH resolved with the resolution of sickle cell bone pain crisis without use of immunosuppressive therapy. To the best of our knowledge this is the first documented case of HLH associated with sickle cell bone pain crisis.
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PMID:Sickle cell crisis associated with hemophagocytic lymphohistiocytosis. 1549 57


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