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)

Out of 104 patients with microcytosis (MCV less than 80 fl), 69% had an iron deficiency, 21% a chronic disease and 10% hemoglobinopathy or thalassemia trait. The absence of bone marrow iron stores or the response to iron supplementation were used to establish the diagnosis iron deficiency. On the basis of sensitivity (90%) and specificity (100%), the serum ferritin concentration is more suitable for assessment of iron deficiency than the serum iron concentration, the total iron-binding capacity or the percentual saturation of transferrin. The red cell distribution width (RDW) is the parameter with the highest sensitivity for iron deficiency (94%). An RDW value within the reference interval can be used to exclude iron deficiency in those cases in which the serum ferritin concentration does not accurately reflect the iron stores owing to severe tissue damage, as in inflammation or malignancy.
 ...
PMID:Evaluation of microcytosis using serum ferritin and red blood cell distribution width. 231 92

Anemia is responsible for an estimated 20% of maternal deaths in West Africa and contributes to still more deaths through obstetric hemorrhage. Anemia during pregnancy has been linked to iron and folate dietary deficiencies, the secondary effects of malaria and hookworm infestations, infections such as human immunodeficiency virus, and hemoglobinopathies. Parasitic infestations interfere with the normal increase (given a balanced diet) in iron absorption during pregnancy. An understanding of locally salient etiologic factors should form the basis of public health programs aimed at addressing anemia during pregnancy. There is a need for basic prevalence statistics, especially from West Africa's rural areas. Finally, reliable laboratory parameters that can be used in the assessment of iron and folate status and the degree of anemia attributable to malaria must be established. Although there is emerging evidence that serum transferrin receptor concentration is not affected by chronic disease or the physiological changes of pregnancy, further studies are needed to validate this measure.
 ...
PMID:The aetiology of anaemia in pregnancy in West Africa. 913 12

The frequency and etiology of anemia were investigated in 2,913 children between six and 16 years of age in Sanliurfa, in the southeast region of Turkey. Anemia was found in 142 (7.8%) children in the 6-11 years of age group, and in 16 (1.5%) in the 12-16 years of age group; in total, in 158 (5.4%) children. Causes were iron deficiency in 93 (58.9%) children, beta-thalassemia heterozygosity in 10 (6.3%) children, chronic disease that causes anemia of inflammation in 30 (19.0%) children, and intestinal parasitic infections in 17 (10.8%) children. In eight (5.1%) children, the cause of anemia could not be determined. The study's results showed that iron deficiency anemia and chronic and parasitic disease are important problems in schoolchildren of Sanliurfa, while beta-thalassemia and hemoglobinopathies have less importance.
 ...
PMID:The frequency and etiology of anemia among children 6-16 years of age in the southeast region of Turkey. 1093 71

The Centres for Disease Control and Prevention have defined a chronic diseases as an "illnesses that are prolonged, do not resolve spontaneously, and are rarely cured completely". Approximately 20% of all children have a chronic illness and 65% of them the illness is severe enough to interfere with daily activities. Failure of pubertal growth, delay or absence of sexual development, infertility and sexual dysfunction due to hypogonadism and defective spermatogenesis are well recognized disturbances among adolescents and young male adult patients with chronic diseases. The causes are multifactorial and can be due to disease itself, associated complications or drugs. Haemoglobinopathies, endocrine disorders, gastrointestinal and renal diseases are some examples that frequently cause some degree of disability. Infertility affects the future quality of life of these patients and is a predictor of stress in current and future relationships. Health care providers often neglect the reproductive health of chronically ill adolescents and young adults, although many studies indicate that they are sexually active and interested in knowing about their future fertility. This review article provides an overview of the literature concerning the impact of some chronic diseases in adolescents and young adults on reproductive health but will not address patients with cancer because it has been tackled adequately in the literature.MEDLINE database search of English-language medical journal articles published between 1975 and 2012 for papers related to reproductive health in adolescents and young adults with chronic diseases since childhood was done. Several Authors, recommend that all young adult patients with severe/prolonged chronic disease in childhood should be offered reproductive health care in a specialized center with appropriate expertise, involving a multidisciplinary team, including endocrinologists, andrologists, geneticists, psychologists, urologists and specialist nurses. Adequate information must be provided to these patients about adolescent reproductive health, including types of contraception, pregnancy, sexually transmitted infections and fertility. The importance of transitional care between pediatric and adult medical care should not be ignored. In the development of this process the adolescent must be involved in decision-making regarding treatment or referral. Reproductive health medicine should take a wider view to create a physical, psychological and genetic wellbeing of these patients.
 ...
PMID:Reproductive health in young male adults with chronic diseases in childhood. 2372 36

Anemia affects a third of the world's population and contributes to increased morbidity and mortality, decreased work productivity, and impaired neurological development. Understanding anemia's varied and complex etiology is crucial for developing effective interventions that address the context-specific causes of anemia and for monitoring anemia control programs. We outline definitions and classifications of anemia, describe the biological mechanisms through which anemia develops, and review the variety of conditions that contribute to anemia development. We emphasize the risk factors most prevalent in low- and middle-income countries, including nutritional deficiencies, infection/inflammation, and genetic hemoglobin disorders. Recent work has furthered our understanding of anemia's complex etiology, including the proportion of anemia caused by iron deficiency (ID) and the role of inflammation and infection. Accumulating evidence indicates that the proportion of anemia due to ID differs by population group, geographical setting, infectious disease burden, and the prevalence of other anemia causes. Further research is needed to explore the role of additional nutritional deficiencies, the contribution of infectious and chronic disease, as well as the importance of genetic hemoglobin disorders in certain populations.
 ...
PMID:Anemia epidemiology, pathophysiology, and etiology in low- and middle-income countries. 3100 20

Diabetes mellitus is a heterogeneous and dysmetabolic chronic disease in which the laboratory plays a fundamental role, from diagnosis to monitoring therapy and studying complications. Early diagnosis and good glycemic control should start as early as possible to delay and prevent metabolic and cardio-vascular complications secondary to this disease. Glycated hemoglobin is currently used as the reference parameter. The accuracy of the glycated hemoglobin dosage may be compromised in subjects suffering from chronic renal failure and terminal nephropathy, affected by the reduction in the survival of erythrocytes, with consequent decrease in the time available for glucose to attach to the hemoglobin. In the presence of these renal comorbidities as well as hemoglobinopathies and pregnancy, glycated hemoglobin is not reliable. In such conditions, dosage of glycated albumin can help. Glycated albumin is not only useful for short-term diagnosis and monitoring but predicts the risk of diabetes, even in the presence of euglycemia. This protein is modified in subjects who do not yet have a glycemic alteration but, as a predictive factor, heralds the risk of diabetic disease. This review summarizes the importance of glycated albumin as a biomarker for predicting and stratifying the cardiovascular risk linked to multiorgan metabolic alterations.
 ...
PMID:Recent Updates and Advances in the Use of Glycated Albumin for the Diagnosis and Monitoring of Diabetes and Renal, Cerebro- and Cardio-Metabolic Diseases. 3318 72