In Korea, recent epidemiologic studies show that the incidence of β-thalassemia is increasing as the influx of South-East Asian population increases and molecular technologies develop. However, many patients are still misdiagnosed as iron deficiency anemia (IDA). All patients with microcytic anemia need to perform evaluation including reticulocyte index, Mentzer index, and iron studies. Considering the increasing incidence of β-thalassemia, hemoglobin beta globulin (HBB) gene sequencing should be performed if suspicious. In our cases, patients whose parents were both Koreans were confirmed to have β-thalassemia with a substitution in c1, ATG>GTG, and deletion of the HBB gene. In Korea, initiation condon ATG>AGG (20.9%) is most common mutation, followed by codon 17 (A>T) (17.6%), codon 121 (G>T) (12.1%), and so on. We report two cases of β-thalassemia diagnosed by genetic testing for microcytic anemia.
Anemia ; Anemia, Iron-Deficiency ; Asian Continental Ancestry Group ; Beta-Globulins ; beta-Thalassemia ; Codon ; Epidemiologic Studies ; Genetic Testing ; Humans ; Incidence ; Iron ; Korea ; Parents ; Reticulocytes

OBJECTIVETo investigate the common mutation spectrum of α- and β-thalassemia in Yunnan childbearing-aged population.

METHODSThe common mutation types of α- or β-globin genes were detected by multiple Gap-PCR and the PCR-reversed dot blotting, and the unknown mutation types were determined by DNA sequencing in DNA samples of hypochromic microcytic anemia patients and carriers who were confirmed to be positive by serologic screaning, then the mutation types of globin in Yunnan population were analyzed statistically.

RESULTSA total of 40 kinds of mutation types were detected in 685 detected persons, among them the 3 commonest mutation types of α-globin genes were --(SEA)/αα (49.09%), -α(3.7)/αα (36.67%) and α(CS)α/αα (8.79%), the 3 commonest genetypes of β-globin gene were CD26(GAG>AAG)/N (43.78%), CD41-42(-CTTT)/N (20.1%) and CD17(AAG>TAG)/N (18.9%). There were 348 Han and 212 Dai ethnic persons in 685 cases, but their mutation of globin genes were different between these 2 ethnic groups. The results also showed that the gene mutation types were mostly concentrated in Dai ethnic individuals, since 28 of 38 detected α-β-thalassemia cases were Dai ethnic individuals.

CONCLUSIONThe mutation spectrums of α- and β-globin genes in Yunnan childbearing-aged population are diverse and different from that in other areas of China.

Alpha-Globulins ; genetics ; Anemia, Hypochromic ; ethnology ; genetics ; Asian Continental Ancestry Group ; China ; DNA Mutational Analysis ; Ethnic Groups ; genetics ; Genetic Testing ; Heterozygote ; Humans ; Mutation ; Polymerase Chain Reaction ; alpha-Thalassemia ; ethnology ; genetics ; beta-Globins ; genetics ; beta-Thalassemia ; ethnology ; genetics

OBJECTIVE: To observe the characteristics of serum protein in patients with benign paroxysmal positional vertigo (BPPV) during the symptomatic period. METHOD: Fifty-five patients with BPPV and 58 control subjects were enrolled in the study. All the patients underwent the Dixe-Hallpike and Roll maneuver to confirm the type of BPPV. The average time of onset was (1.0 ± 0.8)days in the group of BPPV. The clinical features and the laboratory tests of serum protein electrophoresis, blood counts, and liver and kidney function were performed in both groups. RESULT: The levels of serum albumin (Alb), α1 globulin, α2 globulin and β globulin of BPPV group did not differ statistically in the two groups (P > 0.05); The γ-globulin levels were significantly higher in patients with BPPV than in controls (P < 0.05). CONCLUSION The γ-globulin levels are increased when BPPV is attacking.
Alpha-Globulins ; analysis ; Benign Paroxysmal Positional Vertigo ; blood ; diagnosis ; Beta-Globulins ; analysis ; Case-Control Studies ; Humans ; Serum Albumin ; analysis ; gamma-Globulins ; analysis

Fanconi syndrome (FS) is a rare condition that is characterized by defects in the proximal tubular function. A 48-year-old woman was admitted for evaluation of proteinuria. The patient showed normal anion gap acidosis, normoglycemic glycosuria, hypophosphatemia, and hypouricemia. Thus, her condition was compatible with FS. The M peak was found behind the beta globulin region in urine protein electrophoresis. Upon bone marrow examination, we found that 24% of cells were CD138+ plasma cells with kappa restriction. From a kidney biopsy, we found crystalline inclusions within proximal tubular epithelial cells. Thereafter, she was diagnosed with FS accompanied by multiple myeloma. The patient received chemotherapy and autologous stem cell transplantation, and obtained very good partial hematologic response. However, proximal tubular dysfunction was persistent until 1 year after autologous stem cell transplantation. In short, we report a case of FS accompanied by multiple myeloma, demonstrating crystalline inclusion in proximal tubular cells on kidney biopsy.
Acid-Base Equilibrium ; Acidosis ; Beta-Globulins ; Biopsy ; Bone Marrow Examination ; Crystallins ; Drug Therapy ; Electrophoresis ; Epithelial Cells ; Fanconi Syndrome* ; Female ; Glycosuria ; Humans ; Hypophosphatemia ; Immunoglobulin kappa-Chains ; Kidney ; Middle Aged ; Multiple Myeloma* ; Plasma Cells ; Proteinuria ; Stem Cell Transplantation

OBJECTIVETo explore the effects of harmful factors in tank cabins on renal function of tank crews.

METHODSOne hundred and fifty two tank crews as the observation group and 37 soldiers without tank environment exposure as control group were selected in the study. α1-microglobulin(α1-MG), &beta;2-microglobulin(&beta;2-MG), IgG, N-acetyl-&beta;-glucosidase (NAG) and urinary albumin excretion rate (UAER) in morning and 24 h urine were measured.

RESULTSCompared to the control group, the levels of α1-MG, &beta;2-MG, NAG, UAER in observation group were increased significantly (P < 0.05). &beta;2-MG, NAG, UAER of Soldiers with more than 50 motorized hours in observation group were significantly higher than those of control group (P < 0.05). &beta;2-MG, NAG and UAER of soldiers divorced from tank occupation more than 3 years decreased to the normal levels. &beta;2-MG of soldiers divorced from tank occupation more than 10 years was significantly higher than that of 6-10 years group.

CONCLUSIONTank occupational exposure influences the renal function of tank crews but not to a degree of clinical kidney disease. The renal function of crews divorced from tank occupation may recover but dysfunction of renal tubular reabsorption still exists.

Acetylglucosaminidase ; metabolism ; Albuminuria ; Alpha-Globulins ; metabolism ; Environmental Exposure ; adverse effects ; Humans ; Kidney ; physiology ; Kidney Function Tests ; Military Personnel ; beta 2-Microglobulin ; metabolism

Renal damage is one of the most common complications and cause of death in patients with multiple myeloma (MM). The studies have pointed out that early renal impairment is risk factor for progress of this disease, timely diagnosis and prompt intervention therapy are very important to improve the prognosis and survival of MM patients. Therefore, the diagnosis of early renal damage is crucial for clinical treatment. The progress on detection of early renal damage parameters and their value are reviewed in this article.
Alpha-Globulins ; urine ; Humans ; Kidney ; physiopathology ; Multiple Myeloma ; diagnosis ; physiopathology ; Proteinuria ; Retinol-Binding Proteins ; urine ; beta 2-Microglobulin ; urine

OBJECTIVETo observe the effects of Modified Liangge Powder (MLP) on the expressions of platelet toll like receptor 4 (TLR4) and the release of platelet-derived cytokines interleukin 8 (IL-8), beta platelet globulin (beta-TG), soluble CD40 ligand (sCD40L).

METHODSThe modulating effects on the release of cytokines from mice platelets by TLR4 ligand through monoclonal antibody blocking TLR4 on platelet were compared. The stimulated platelet by LPS was incubated with low (0.94 g/mL), medium (1.89 g/mL), and high (2.84 g/mL) dose of MLP contained serum. The changes of the platelet TLR4 expression and platelet-derived cytokines were observed.

RESULTSThe positive expression rate of platelet TLR4 obviously decreased (P < 0.01) and the release of sCD40L and beta-TG from platelets significantly increased (P < 0.01) after stimulated by LPS. However, the release of sCD40L and beta-TG from platelets obviously decreased by TLR4 monoclonal antibody (P < 0.05, P < 0.01). There was no statistical difference in IL-8 between before and after LPS stimulation (P > 0.05). Platelet TLR4 positive expression rate was significantly higher after incubated by medium and high doses of MLP contained serum (P < 0.01), and the releasing of sCD40L and beta-TG was lower in the serum contained groups. The inhibitory effects were enhanced in a dose-dependent manner.

CONCLUSIONSLPS induced platelet activation by TLR4 and released sCD40L and beta-TG, while the release of platelet IL-8 was not dependent on platelet TLR4-LPS pathway. MLP could inhibit LPS-stimulated sCD40L and beta-TG, inhibit the binding of platelet TLR4 and LPS in a dose-dependent manner, thus reducing the release of platelet cytokines.

Animals ; Beta-Globulins ; metabolism ; Blood Platelets ; drug effects ; metabolism ; CD40 Ligand ; metabolism ; Cytokines ; metabolism ; Drugs, Chinese Herbal ; pharmacology ; Interleukin-8 ; metabolism ; Lipopolysaccharides ; adverse effects ; Male ; Mice ; Mice, Inbred ICR ; Serum ; Toll-Like Receptor 4 ; metabolism

PURPOSE: The reticuloendothelial system is composed of sinusoidal capillaries, through which even large protein molecules are freely movable between plasma and interstitial space, including the lymphatic system. Therefore, high-dose intravenous immunoglobulin (IVIG) would cause a redistribution of proteins between two compartments. To investigate this hypothesis, we measured plasma protein and lipid levels in patients with Kawasaki disease before and after high-dose IVIG treatment. METHODS: Thirty four children with Kawasaki disease who had complete responses to high-dose IVIG treatment (1 g/kg/day for two consecutive days), were analyzed. Before and after the administration of IVIG, serum analyses were performed for such parameters as total protein, albumin, gamma-globulins (IgG, IgM, IgA), alpha1-, alpha2-, and beta-globulin fractions, and lipid profiles (total cholesterol, HDL-cholesterol, LDL-cholesterol and triglyceride). RESULTS: The levels of gamma-globulins including IgG, IgM, IgA were significantly increased, and IgG was increased by 1,779+/-304 mg/dL after two-dose of IVIG infusion. The levels of albumin, alpha1-, alpha2-, and beta-globulin fractions were significantly decreased by 18 percent, 24 percent, 19 percent and 12 percent, respectively. HDL-cholesterol level was significantly decreased by 20 percent, while LDL-cholesterol and triglyceride levels were significantly increased by 21 percent and 50 percent, respectively. The total cholesterol level was not changed. CONCLUSION: High-dose IVIG treatment decreased the levels of a variety of proteins except immunoglobulins, and the increase of IgG after IVIG treatment was lower than expected. Our results suggest that a part of infused IVIG and plasma proteins, including etiologic proteins for Kawasaki disease, may be distributed to the extravascular compartments. The rapid improvement of symptoms induced by IVIG in Kawasaki disease might be explained by this mode of action of IVIG.
Beta-Globulins ; Blood Proteins ; Capillaries ; Child ; Cholesterol ; gamma-Globulins ; Humans ; Immunoglobulin A ; Immunoglobulin G ; Immunoglobulin M ; Immunoglobulins* ; Immunoglobulins, Intravenous ; Lymphatic System ; Mononuclear Phagocyte System ; Mucocutaneous Lymph Node Syndrome* ; Plasma* ; Triglycerides

OBJECTIVETo investigate the renal function in newborns with birth asphyxia or intrauterine distress in the first week of life.

METHODSSixty full-term newborns born between June 2002 and February 2003 were assigned into three groups: Control group (healthy newborns), Intrauterine distress group (Apgar score > 7), and Birth asphyxia group without intrauterine distress (12 mild asphyxia and 8 severe asphyxia) (n=20 each). Urinary levels of alpha1-microglobulin (alpha1-MG), beta2-microglobulin (beta2-MG) and albumin (Alb) were detected by radioimmunoassay at 0-2, 3-4 and 6-7 days after birth.

RESULTSThe urinary levels of alpha1-MG, beta2-MG and Alb in the Asphyxia group were significantly higher than those in the Control group at all time points (P < 0.05), peaking at 3-4 days after birth. Statistically significant differences were found between the severely and mildly asphyxiated newborns for the urinary levels of alpha1-MG, beta2-MG and Alb at all time points (P < 0.05). There were no significant differences in the urinary levels of alpha1-MG, beta2-MG and Alb between the Intrauterine distress and the Control groups at each time point.

CONCLUSIONSBirth asphyxia may lead to renal glomerular and tubular impairments and it is speculated that the most serious impairment occurs at the 3rd and 4th days of life. The severity of renal impairments is associated with the degree of asphyxia. The renal function of the newborn appears to be normal following intrauterine distress.

Albuminuria ; urine ; Alpha-Globulins ; urine ; Asphyxia Neonatorum ; physiopathology ; Fetal Distress ; physiopathology ; Humans ; Infant, Newborn ; Kidney ; physiopathology ; beta 2-Microglobulin ; urine

The research studied urinary beta2-microglobulin excretion to detect tubular dysfunction in 31 patients with primary nephrotic syndrome. The result showed the increased excretion of beta2-microglobulin was observed in 11/31 cases. There were no sighgicant differences of the urinary creatinine excreation and between group of patients with increased urinary beta2-microglobulin excretion and the group without it. This indicated having combine tubular dysfunction in patients with primary nephrotic syndrome. The finding might suggest the use of urinary beta2-microglobulin for detecting the associated tubular disfuntion in such patients
Diagnosis ; Creatinine ; Beta-Globulins