ABSTRACT
Beta-thalassemia minor (BTM) patients usually experience fatigue, bone pain complaint, and muscle weakness. Carnitine is an essential protein for transportation of long-chain fatty acids to the matrix for beta-oxidation. BTM patients have abnormally low plasma carnitine concentrations, which results in deficient ATP production. Carnitine and folic acid together may have a role in preventing bone pain complaint and fatigue in these patients. The aim of this study is to determine the effect of carnitine and folic acid supplementation in subjects with BTM. Seventy three BTM (mean age 11.06 ± 5.46 years) and 23 healthy controls (mean age 8.48 ± 3.78 years) were enrolled in the study. Fasting blood was drawn to determine baseline free and total carnitine levels, red blood cell folate concentration, and hemoglobin level. BTM were divided into three groups and received different types of supplementation for 3 months: Group 1, 50 mg/kg/day carnitine; Group 2, 50 mg/kg/day carnitine plus 1 mg/day folic acid; and Group 3, 1 mg/day folic acid. Controls did not receive supplementation. Laboratory parameters were again evaluated after 3 months' supplementation. A detailed quality of life questionnaire was designed to investigate muscle symptoms before and after supplementation. Free and total plasma carnitine concentration and hemoglobin levels in BTM subjects increased significantly after carnitine supplementation (P < .0001). Bone pain complaint and muscle weakness decreased with carnitine. Red blood cell folate level increased after folic acid supplementation. Carnitine and folic acid supplementation resulted in a decrease in bone pain complaint and muscle weakness in cases with ß-thalassemia minor.
Subject(s)
Carnitine/administration & dosage , Dietary Supplements , Fatigue/drug therapy , Folic Acid/administration & dosage , Vitamin B Complex/administration & dosage , beta-Thalassemia/drug therapy , Adolescent , Child , Child, Preschool , Fatigue/blood , Fatigue/etiology , Fatigue/physiopathology , Female , Hemoglobins/metabolism , Humans , Male , Quality of Life , Surveys and Questionnaires , beta-Thalassemia/blood , beta-Thalassemia/complications , beta-Thalassemia/physiopathologyABSTRACT
BACKGROUND: Killer cell immunoglobulin-like receptors (KIR) are expressed on NK cells and a subset of T cells. The variable KIR receptors along with their ligands, HLA class I, influence risk for autoimmune and malignant diseases. OBJECTIVE: To investigate the KIR gene profiles in relation to susceptibility to Graves' disease in patients with ophthalmopathy. METHODS: KIR genes profiles were analyzed in 90 patients presenting Graves' disease with ophthalmopathy representing upper eyelid retraction, swelling, redness, conjunctivitis, and bulging eyes and were compared with the KIR gene profiles of 112 healthy controls. The presence and absence of 11 variable KIR genes were characterized using a gene-specific PCR typing system. RESULTS: There was no significant difference in the distribution of KIR gene profiles between patients and controls. CONCLUSION: Our data show that none of the KIR genotypes contribute in susceptibility to Graves' disease; although the role of HLA ligand remains to be characterized.