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

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

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

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