OBJECTIVE: The explore the genetic basis for a patient with microcytic hypochromic anemia and iron deficiency anemia. METHODS: Common deletions and variants of the globin genes were detected by Gap-PCR and next generation sequencing (NGS). Suspected mutations were verified by Sanger sequencing. RESULTS: Gap-PCR and NGS showed that the proband has carried a αα/-α CONCLUSION Patients with α HBA2 c.2T>A(p.Met1Lys) α/-α
Anemia, Hypochromic/genetics* ; Codon, Initiator/genetics* ; Female ; Genetic Counseling ; Genetic Variation ; Genotype ; Humans ; Male ; Mutation ; Pregnancy ; Prenatal Diagnosis ; alpha-Globins/genetics* ; alpha-Thalassemia/genetics*

OBJECTIVE: To analyze the hematological characteristics of Hb Broomhill and Hb Hornchurch, and prenatal diagnosis should be carried out in two families. METHODS: RBC parameters and hemoglobin electrophoretogram were analyzed on the peripheral blood of all patients, and amniotic fluid was collected for prenatal diagnosis. PCR-Flow fluorescent hybridization and Sanger sequencing were performed for gene diagnosis of thalassemia. RESULTS: Three cases of Hb Broomhill were detected, including 2 cases with common SEA α-thalassemia, which was characterized by hypochromic microcytic mild anemia, the capillary electrophoregram revealed a tiny shoulder peak before the Hb A peak; 1 case was diagnosed as Hb Hornchurch combined with β-thalassemia, which also showed mild anemia. Hemoglobin electrophoretogram showed an abnormal hemoglobin variant peak at Hb A CONCLUSION The carriers of Hb Broomhill and Hb Hornchurch do not have microcytic hypochromic anemia, which do not aggravate the hematological symptoms, such as anemia when being combined with thalassemia of the same type.
Anemia, Hypochromic ; Hemoglobins, Abnormal/genetics* ; Heterozygote ; Humans ; alpha-Thalassemia/genetics* ; beta-Thalassemia

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

Iron-deficiency anemia (IDA) is the most frequent hematologic and nutritional disorder in children. The risk factors associated with IDA in children are rapid growth with inadequate dietary iron, low birth weight, premature birth, perinatal bleeding, early cow's milk intake, and breastfeeding beyond 6 months without iron supplementation. Blood loss is also an important cause of IDA. Most children with IDA are asymptomatic and may go undiagnosed. The diagnosis of IDA is confirmed by microcytic hypochromic anemia and a low level of serum ferritin. Monitoring the response to iron supplementation is a reasonable intervention for a clinically stable child with mild anemia and inadequate iron intake. IDA must be differentiated from the anemia that arises from chronic disease and thalassemia. Oral iron is usually recommended as first-line therapy. Parenteral iron is indicated in cases of poor compliance or failure of oral iron, intestinal malabsorption, or chronic bleeding.
Anemia ; Anemia, Hypochromic ; Anemia, Iron-Deficiency* ; Breast Feeding ; Child* ; Chronic Disease ; Compliance ; Diagnosis* ; Ferritins ; Hemorrhage ; Humans ; Infant, Low Birth Weight ; Infant, Newborn ; Iron ; Iron, Dietary ; Milk ; Nutrition Disorders ; Premature Birth ; Risk Factors ; Thalassemia

Herein, we report a rare case of hemolytic anemia with reticulocytopenia following intravenous immunoglobulin therapy in a young infant treated for Kawasaki disease. A 2-month-old boy presented with fever lasting 3 days, conjunctival injection, strawberry tongue, erythematous edema of the hands, and macular rash, symptoms and signs suggestive of incomplete Kawasaki disease. His fever resolved 8 days after treatment with aspirin and high dose infusion of intravenous immunoglobulin. The hemoglobin and hematocrit decreased from 9.7 g/dL and 27.1% to 7.4 g/dL and 21.3%, respectively. The patient had normocytic hypochromic anemia with anisocytosis, poikilocytosis, immature neutrophils, and nucleated red blood cells. The direct antiglobulin test result was positive, and the reticulocyte count was 1.39%. The patient had an uneventful recovery. However, reticulocytopenia persisted 1 month after discharge.
Anemia ; Anemia, Hemolytic* ; Anemia, Hypochromic ; Aspirin ; Coombs Test ; Edema ; Erythrocytes ; Exanthema ; Fever ; Fragaria ; Hand ; Hematocrit ; Hemolysis ; Humans ; Immunization, Passive* ; Immunoglobulins* ; Infant* ; Male* ; Mucocutaneous Lymph Node Syndrome* ; Neutrophils ; Reticulocyte Count ; Reticulocytes ; Tongue

OBJECTIVETo explore the association between anemia and 3-year all-cause mortality among the oldest old people in longevity areas in China.

METHODSIn August 2012, questionnaire survey, health examination and blood test were conducted among 929 old people aged ≥ 80 years in 7 longevity areas in China, who were included in Chinese Longitudinal Healthy Longevity Survey (CLHLS) 2009. Cox regression model was used to evaluate the association between anemia or different hemoglobin levels and mortality.

RESULTSAmong the 929 subjects, the prevalence of anemia was 49.6%, the main form of anemia was normocytic anemia. During the three year follow-up period, a total of 447 subjects died, the overall mortality was 49.8% (56.0% in subjects with anemia and 43.3% in subjects without anemia). Compared with the subjects without anemia, the mortality risk increased by 25% in the subjects with anemia after adjusting confounding factors (HR = 1.25, 95% CI: 1.03-1.52). Macrocytic anemia, simplex microcytic anemia and microcytic hypochromic anemia were all associated with the increased mortality in the oldest old people. Compared with the subjects with low hemoglobin concentration, the subjects with high hemoglobin concentration had a lower mortality risk, and the association was more obvious in women.

CONCLUSIONAnemia and low hemoglobin concentration were associated with higher mortality risk in the oldest old people in China, indicating the importance of anemia prevention and treatment among this population.

Aged, 80 and over ; Anemia ; epidemiology ; Anemia, Hypochromic ; epidemiology ; Cause of Death ; China ; epidemiology ; Female ; Humans ; Longevity ; Longitudinal Studies ; Male ; Prevalence ; Risk ; Surveys and Questionnaires

OBJECTIVETo investigate the effects of iron supplement on function of mitochondrial respiratory of liver during exercise-induced hypochromic rats.

METHODForty healthy male Wistar rats were randomized into 5 groups (n = 8): static control (C), exercise-training (T), training with supplementation of small dose iron (S + T), training with supplementation of middle dose iron (M + T) and training with supplementation of large dose iron (L + T). Training performed incremental exercise for 8 weeks, 6 days/week, iron supplementation from the fifth week. Liver were prepared immediately after exhaustive running. Liver mitochondria were extracted by differential centrifugation. Spectrophotometric analysis was used to evaluate activities of electron transport chain complex (C) I-IV in liver mitochondria.

RESULTS(1) C I, CII and CIV activities in T group were increased significantly (P < 0.05, P < 0.01), CI - C IV activities in S + T, M + T and L + T groups were increased significantly (P < 0.05, P < 0.01) compared with those in C group. (2) CII activity in S + T group was increased remarkably (P < 0.05); CIII and CIV activities in M + T group were increased remarkably (P < 0.01); CI - CIV activities in L+ T group were increased remarkably (P < 0.05, P < 0.01) compared with those in T group.

CONCLUSIONLarge load exercise training composite iron supplementation can improve function of mitochondrial respiration of liver and the aerobic capacity. From the athletic ability , the middle dose iron supplementation is better during large load exercise training.

Anemia, Hypochromic ; metabolism ; physiopathology ; Animals ; Cell Respiration ; drug effects ; Hemoglobins ; metabolism ; Iron ; administration & dosage ; pharmacology ; Male ; Mitochondria, Liver ; drug effects ; physiology ; Physical Conditioning, Animal ; Rats ; Rats, Wistar

Gibberella fujikuroi species complex (GFSC) was isolated from rice (Oryza sativa L.) seed samples from ten Asian countries and investigated for incidence of GFSC, molecular characteristics, and pathogenicity. Regardless of geographic origin, GFSC was detected with incidences ranging from 3% to 80%. Four species, Fusarium fujikuroi, F. concentricum, F. proliferatum, and F. verticillioides, were found to show an association with rice seeds, with F. fujikuroi being the predominant species. In phylogenetic analyses of DNA sequences, no relationship was found between species, isolates, and geographic sources of samples. Unidentified fragments of the beta-tubulin gene were observed in ten isolates of F. fujikuroi and F. verticillioides. With the exception of three isolates of F. fujikuroi, F. fujikuroi, F. proliferatum, and F. verticillioides were found to have FUM1 (the fumonisin biosynthetic gene); however, FUM1 was not found in isolates of F. concentricum. Results of pathogenicity testing showed that all isolates caused reduced germination of rice seed. In addition, F. fujikuroi and F. concentricum caused typical symptoms of bakanae, leaf elongation and chlorosis, whereas F. proliferatum and F. verticillioides only caused stunting of seedlings. These findings provide insight into the characteristics of GFSC associated with rice seeds and might be helpful in development of strategies for management of bakanae.
Anemia, Hypochromic ; Asian Continental Ancestry Group* ; Base Sequence ; Fusarium ; Germination ; Gibberella* ; Humans ; Incidence* ; Seedlings ; Tubulin ; Virulence*

Alpha-thalassemia (alpha-thalassemia), which is prevalent in the Mediterranean region, is caused by deficient synthesis of the alpha-globin chains. It is commonly caused by HBA1 and/or HBA2 gene deletion and is diagnosed by DNA sequence analysis. The proband was a 38-year-old woman who was found to have microcytic and hypochromic anemia on a routine health checkup. Results of the Hb electrophoresis (EP) and direct sequencing of the HBA1 and HBA2 genes were found to be normal. As multiplex ligation-dependent probe amplification (MLPA) for the HBA1 and HBA2 genes revealed heterozygous deletion, she was diagnosed with heterozygous alpha+-thalassemia. Although routine laboratory tests revealed similar findings in the proband's father, brother and niece, MLPA revealed heterozygous deletions of the HBA1 or HBA2 gene in her brother and niece. In summary, we report a case of heterozygous alpha+-thalassemia in a Korean family that was detected by MLPA. We recommend that patients with suspected hemoglobinopathies should be followed-up further with MLPA, especially when Hb EP shows a normal pattern.
alpha-Globins ; alpha-Thalassemia ; Anemia, Hypochromic ; Electrophoresis ; Fathers ; Female ; Gene Deletion ; Hemoglobin A, Glycosylated ; Hemoglobinopathies ; Humans ; Mediterranean Region ; Multiplex Polymerase Chain Reaction ; Sequence Analysis, DNA ; Siblings

BACKGROUND: Iron deficiency anemia (IDA) is the most common anemia followed by anemia of chronic disease (ACD). Reticulocyte indices have been shown to be helpful indicators for detecting IDA. We investigated whether RBC and reticulocyte indices can be used to differentiate ACD from IDA. METHODS: A total of 85 women showing microcytic hypochromic anemia (38 IDA and 47 ACD cases) were enrolled. IDA was defined as those with ferritin level of <6 microg/dL and total iron binding capacity (TIBC) of >450 microg/dL. ACD was defined as ferritin level of > or =6 microg/dL, TIBC of < or =450 microg/dL, and presence of underlying diseases. We measured complete blood count, TIBC, iron, ferritin, and RBC and reticulocyte indices. The mean values of each item were compared between the two groups and sensitivity and specificity of each item in the differential diagnosis of ACD from IDA were determined by ROC curve analysis. RESULTS: In ACD, most of the RBC and reticulocyte indices were significantly higher than in IDA: mean cell volume (MCV), mean cell hemoglobin (MCH), mean cell hemoglobin concentration (MCHC), cellular hemoglobin concentration mean (CHCM), cellular hemoglobin content (CH), red cell distribution width (RDW), reticulocyte hemoglobin content (CHr), and mature RBC cellular hemoglobin content (CHm). All these indices, except MCV showed significant correlations with ferritin and/or TIBC. CHr level of > or =24.6 pg could be used to differentiate ACD from IDA with 85.1% sensitivity and 81.6% specificity. CONCLUSIONS: The reticulocyte indices, especially CHr, are useful for the differential diagnosis of microcytic hypochromic anemias, ACD and IDA.
Adult ; Anemia ; Anemia, Hypochromic ; Anemia, Iron-Deficiency ; Blood Cell Count ; Chronic Disease ; Diagnosis, Differential ; Erythrocyte Indices ; Female ; Ferritins ; Hemoglobins ; Humans ; Iron ; Reticulocytes ; ROC Curve ; Sensitivity and Specificity