OBJECTIVE: To analyze the hematological characteristics of HbE homozygotes. METHODS: Complete blood cells count and hemoglobin electrophoresis were used for phenotypic analysis of 78 cases with HbE homozygotes from Yunnan province, China. The PCR-fluorescence hybridization was used to detect the common gene mutation of thalassemia. The hematological indexes, including MCV, MCH, Hb, HbA2, HbF and HbE were statistically analyzed between groups with different sex, ages and compound α thalassemia status. RESULTS: In HbE homozygotes (HbEE), 89.5% (17/19) children presented mild to moderate microcytic hypochromic anemia, and 10.5% of them presented moderate anemia. 39.6% (19/48) of women with HbEE developed mild anemia ,while 11 cases of male with HbE homozygotes were asymptomatic. The levels of MCV and MCH in HbE homozygotes increased by co-inheritance of α thalassemia mutation. CONCLUSION The clinical phenotype of HbE homozygote shows highly heterogeneous, which is relates with age, sex and co-inheriting α-globin genotypes. In Hb EE women and children are more likely to develop mild to moderate anemia. The microcytic hypochromic anemia degree is relieved when HbEE combined with α- thalassemia.
Child ; China ; Female ; Genotype ; Hemoglobin E ; genetics ; Homozygote ; Humans ; Male ; Phenotype ; alpha-Thalassemia

Hb mutations can alter the structure, behavior, stability, or quantity of the globin chain produced. Some Hb variants shorten the erythrocyte life span, resulting in physiologically lower hemoglobin A1c (HbA1c) levels. The hemoglobin E (HbE) phenotype involves a single-nucleotide polymorphism that reduces β-globin chain synthesis. We compared the HbA1c levels of subjects with normal Hb (HbAA; N=131) and HbE (N=148) phenotypes, examining potential hematological and biochemical factors contributing to differences in HbA1c levels. All had normal fasting plasma glucose ( < 5.6 mmol/L), AST, ALT, and creatinine levels. Mean±SD HbA1c levels differed between HbAA and HbE subjects: 5.5±0.3% and 5.3±0.3% (P < 0.001) according to an immunoassay, and 5.5±0.3% and 5.3±0.3% (P < 0.001) according to cation-exchange HPLC, respectively. In multiple logistic regression, only mean corpuscular volume (P < 0.001) contributed to the difference in HbA1c levels between groups. Although a 0.2% difference in HbA1c is relatively small and unlikely to alter clinical decisions, epidemiologically, this can lead to misclassification of a significant proportion of the population, especially since the threshold of non-diabetes HbA1c (≤5.6%) falls very close to the HbA1c median of the general population.
Accidental Falls ; Blood Glucose ; Chromatography, High Pressure Liquid ; Creatinine ; Erythrocyte Indices ; Erythrocytes ; Fasting ; Globins ; Hemoglobin E ; Hemoglobins ; Immunoassay ; Logistic Models ; Phenotype

Malaria is one of the most important public health problems in tropical areas on the globe. Several factors are associated with susceptibility to malaria and disease severity, including innate immunity such as blood group, hemoglobinopathy, and heme oxygenase-1 (HO-1) polymorphisms. This study was carried out to investigate association among ABO blood group, thalassemia types and HO-1 polymorphisms in malaria. The malarial blood samples were collected from patients along the Thai-Myanmar border. Determination of ABO blood group, thalassemia variants, and HO-1 polymorphisms were performed using agglutination test, low pressure liquid chromatography and polymerase chain reaction, respectively. Plasmodium vivax was the major infected malaria species in the study samples. Distribution of ABO blood type in the malaria-infected samples was similar to that in healthy subjects, of which blood type O being most prevalent. Association between blood group A and decreased risk of severe malaria was significant. Six thalassemia types (30%) were detected, i.e., hemoglobin E (HbE), β-thalassemia, α-thalassemia 1, α-thalassemia 2, HbE with α-thalassemia 2, and β-thalassemia with α-thalassemia 2. Malaria infected samples without thalassemia showed significantly higher risk to severe malaria. The prevalence of HO-1 polymorphisms, S/S, S/L and L/L were 25, 62, and 13%, respectively. Further study with larger sample size is required to confirm the impact of these 3 host genetic factors in malaria patients.
Agglutination Tests ; Blood Group Antigens ; Chromatography, Liquid ; Healthy Volunteers ; Heme Oxygenase (Decyclizing) ; Heme Oxygenase-1 ; Heme ; Hemoglobin E ; Hemoglobinopathies ; Hemoglobins ; Humans ; Immunity, Innate ; Malaria ; Plasmodium vivax ; Polymerase Chain Reaction ; Prevalence ; Public Health ; Sample Size ; Thalassemia

No abstract available.
Base Sequence ; DNA/metabolism ; Emigration and Immigration ; Female ; Hemoglobin E/*genetics ; Homozygote ; Humans ; Polymerase Chain Reaction ; Republic of Korea ; Sequence Analysis, DNA ; Thailand

Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Hemoglobin E ; analysis ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Severity of Illness Index ; Singapore ; Young Adult ; beta-Thalassemia ; blood ; therapy

OBJECTIVETo analyze the genotype and phenotype correlation in the hemoglobin E (HbE) carriers, and to investigate the effect of HbE on hematological parameters.

METHODSThe capillary electrophoresis was used to screen total 14 141 samples and blood cell analysis was further processed to the HbE carrying samples. Gap-PCR and reverse dot blot hybridization method were used for the detection of Chinese common mutation of α and β thalassemia.

RESULTSThere is a statistical difference in hematological phenotype index (HGB, MCV, MCH, HbE, HbA(2)) between samples of HbE heterozygous (53 samples), HbE homozygous (2 samples), HbE composite α thalassemia (α-thal, 7 samples) and HbE composite β thalassemia (β-thal, 8 samples). Among the four groups, HbE heterozygous \[HGB (122.7 ± 19.99) g/L, MCV (78.65 ± 5.03) fl\] and HbE composite α-thal \[HGB (113.6 ± 22.68) g/L, MCV (73.50 ± 7.73) fl\] had slight effect on hematological parameters, but HbE composite β-thal \[HGB (76.4 ± 12.30) g/L\], MCV (59.23 ± 5.28) fl\] had the heaviest effect on hematological parameters.

CONCLUSIONCo-existence of HbE heterozygous and other type thalassemias showed variation in their hematological phenotype, so patients should be informed of genetics in prenatal diagnosis.

Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Female ; Genotype ; Hemoglobin E ; genetics ; Heterozygote ; Humans ; Infant ; Male ; Middle Aged ; Phenotype ; Thalassemia ; blood ; genetics ; Young Adult

Aged ; Anemia, Sickle Cell ; complications ; pathology ; Arthritis, Rheumatoid ; complications ; Female ; Hemoglobin E ; Hemoglobin, Sickle ; Humans

The purpose of this study was to investigate effects of the developed nutrition education program focused on individual daily energy requirements and food exchange units using Food Exchange System for diabetes mellitus at a community health center. Developed the nutrition education program, four weeks' nutrition education including provided twice individual meal as diet therapy (2 hour/lesson/week, 4 week), was provided to 20 diabetic elderly (12 male, 8 female, 50-75 yrs): 1st lesson "Introduction: management of diabetes mellitus", 2nd lesson "6 Food groups and sources of 6 food groups", 3rd lesson "Individual daily energy requirements and food exchange units", and 4th lesson "Food choice for diabetes mellitus". For effects' analysis of the developed program, we assessed the changes in anthropometric characteristics; biochemical characteristics and nutrient intakes using 24 hr recall method. Effects of the developed nutrition education program were as follows: weight was significantly decreased, blood urea nitrogen (BUN) and glycosylated hemoglobin (HbA1c) were significantly decreased, and distribution of subjects in BUN and HbA1c was significantly changed. In protein : fat : carbohydrate (PFC) ratio, it was significantly changed from 15.98 : 16.30 : 66.69 to 17.51 : 18.94 : 64.10. In evaluation of nutrient intakes by Dietary Reference Intakes for Koreans (KDRI), protein, fiber, fat, vitamin E, niacin, folic acid, calcium and zinc were shown significantly positive changes in distribution of subjects according to intake level. The index of nutrition quality (INQ), nutrition adequacy ratio (NAR) and mean nutrition adequacy ratio (MAR) were significantly increased. In conclusion, the developed 4 weeks' nutrition education program focused on individual daily energy requirements and food exchange units using Food Exchange System for diabetes mellitus at community health center may improve the symptom of diabetes mellitus.
Aged ; Blood Urea Nitrogen ; Calcium ; Community Health Centers ; Diabetes Mellitus ; Female ; Folic Acid ; Hemoglobin A, Glycosylated ; Humans ; Male ; Meals ; Niacin ; Vitamin E ; Vitamins ; Zinc

INTRODUCTIONHaemoglobin (Hb) E beta-thalassaemia is a common thalassaemic disorder in Southeast Asia and is very common in the eastern and north-eastern parts of India. The disease cause rapid erythrocyte destruction due to the free radical mediated injury but factors for the oxidative injury are not clearly known. We investigated the free reactive iron (non-haem) mediated insult in Hb E beta-thalassaemia.

MATERIALS AND METHODSThirty Hb E beta-thalassaemic patients (age range, 3 to 15 years) who had undergone blood transfusion at least 1 month prior to sampling and 32 normal healthy individuals (age range, 18 to 30 years) were included in this study. We estimated the ferrozine detected intracellular erythrocytic free reactive iron (nonhaem iron), reduced glutathione (GSH), glutathione reductase activity, cellular damage marker serum thiobarbituric acid reacting substances (TBARS) and also serum ferritin using standard methods.

RESULTSWe found that the erythrocytic free reactive iron was significantly higher (P <0.001) in Hb E beta patients and was about 30% more than in controls. The elevated level of erythrocytic non-haem iron was associated with a high level of serum TBARS which was about 86% higher in patients than in controls. The serum ferritin level was also significantly higher (P <0.001) compared to controls. The erythrocytic reduced glutathione level was significantly lower (P <0.001) at about 65% less in the patients' group and the erythrocytic glutathione reductase enzyme was also found to be significantly lower (P <0.001) in Hb E beta-thalassaemia.

CONCLUSIONSWe concluded that a significantly elevated level of erythrocytic free reactive iron and lipid peroxidation end product was associated with low erythrocytic GSH level. This reflects non-haem iron mediated cellular damage in Hb E beta-thalassaemia.

Adolescent ; Case-Control Studies ; Child ; Child, Preschool ; Erythrocytes ; metabolism ; Ferritins ; blood ; Glutathione ; blood ; Glutathione Reductase ; blood ; Hemoglobin E ; Humans ; Iron ; blood ; Lipid Peroxidation ; Oxidative Stress ; physiology ; Thiobarbituric Acid Reactive Substances ; metabolism ; beta-Thalassemia ; blood ; physiopathology

OBJECTIVETo investigate the relationship between carotid artery intima media thickness (IMT) and apolipoprotein (Apo) E gene polymorphisms in type 2 diabetes mellitus (DM2).

METHODSTwo hundred and fifty-five DM2 patients without angiopathy and 107 healthy individuals were selected. PCR/allele-specific oligonucleotide probe was used to determine their apoE genotypes.

RESULTSThe prevalence distribution of apoE genotypes and alleles in DM2 patients and that in controls were similar. The TC, LDL-C and Lp(a) concentrations in e4/4, e4/3 subgroups were significantly higher than those in e3/2, e2/2 subgroups (P<0.05). The average value of IMT in e4/4 e4/3 carriers (0.89 mm) was significantly greater than that in e3/2 e2/2 carriers (0.62 mm) (P<0.05). After adjustment for TC, LDL-C, TG, Lp(a), FBG, HbA1c, age, BMI, and smoking, ANCOVA showed that the average value of carotid IMT was significantly greater in subjects with e4/4 e4/3, compared with that in subjects with e3/2 e2/2(P=0.033).

CONCLUSIONApo e4 allele increases the risk for carotid artery atherosclerosis in the early stage of diabetic population.

Adult ; Age Factors ; Aged ; Aged, 80 and over ; Alleles ; Analysis of Variance ; Apolipoprotein E4 ; Apolipoproteins E ; genetics ; Arteriosclerosis ; pathology ; Body Mass Index ; Carotid Artery Diseases ; pathology ; Cholesterol ; blood ; Cholesterol, LDL ; blood ; Diabetes Mellitus, Type 2 ; blood ; genetics ; pathology ; Female ; Gene Frequency ; Genotype ; Glycated Hemoglobin A ; metabolism ; Humans ; Lipoprotein(a) ; blood ; Male ; Middle Aged ; Smoking ; Triglycerides ; blood ; Tunica Intima ; pathology ; Tunica Media ; pathology