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Hemoglobin 2019We report a heterozygous variant of the β-globin chain that showing a mild β-thalassemia intermedia (β-TI) phenotype. He presented with mild anemia, splenomegaly,...
We report a heterozygous variant of the β-globin chain that showing a mild β-thalassemia intermedia (β-TI) phenotype. He presented with mild anemia, splenomegaly, reticulocytosis, and poikilocytosis and tear drop cells on the blood smear; Immune mediated hemolysis, red cell membrane and enzyme defects, were excluded; hemoglobin (Hb) electrophoresis showed an elevation of Hb F. Molecular analysis of the β-globin gene showed a heterozygous variation in exon 3 (: c.379delG, p.Val127Cysfs*32) in the absence of an α-globin gene mutation or mutations that modulate Hb F expression.
Topics: Child; Fetal Hemoglobin; Hemoglobins, Abnormal; Heterozygote; Humans; Male; Mutation; Phenotype; Turkey; beta-Globins; beta-Thalassemia
PubMed: 31530045
DOI: 10.1080/03630269.2019.1660888 -
Fetal Diagnosis and Therapy 2020Rare causes of fetal anemia requiring intrauterine transfusion (IUT) are challenging for fetal medicine specialists.
BACKGROUND
Rare causes of fetal anemia requiring intrauterine transfusion (IUT) are challenging for fetal medicine specialists.
OBJECTIVES
The aim of this study was to describe the perinatal patterns and prognosis in a consecutive series of fetuses transfused for fetal anemia of rare or unknown etiology, and to propose a protocol of investigation for fetal anemia of undetermined cause and for the management of subsequent pregnancies.
METHOD
We conducted a retrospective descriptive study on fetuses transfused for severe anemia of rare or unknown etiology managed in our national referral center (Centre National de Référence d'Hémobiologie Périnatale) and born between 2010 and 2017.
RESULTS
During the study period, 584 IUT were performed in 253 fetuses. Among those IUT, 23 (3.9%) were performed for a rare or unknown cause of anemia in 13 fetuses (5.1% of transfused fetuses). The median gestational age at diagnosis was 26 weeks of gestation (WG; range 21-33). Hemoglobin levels ranged from 1.6 to 9.1 g/dL (0.18-0.83 multiples of median) before the first IUT. The fetuses received between 1 and 6 IUT (39% received at least 2 IUT). The definitive etiologies for central anemia were: congenital syphilis, neonatal poikilocytosis, type II congenital dyserythropoietic anemia (CDA), and neonatal hemochromatosis. There was 1 case with suspected type I CDA and 1 with suspected Diamond-Blackfan anemia. There was 1 case of peripheral anemia, secondary to cerebral hemorrhages of different ages, related to a variant of the COL4A1 gene. In 6 fetuses corresponding to 4 mothers, no precise diagnosis was found despite a complete workup. In our series, there were 8 live births, 4 terminations of pregnancy, and 1 intrauterine fetal death.
CONCLUSIONS
Fetal anemia of rare or unknown diagnosis represents 5% of all transfused fetuses in our cohort. Fetal and neonatal anemias can be recurrent in further pregnancies, with variable expressivity.
Topics: Abortion, Induced; Anemia; Biomarkers; Blood Transfusion, Intrauterine; Female; Fetal Death; Fetal Diseases; Fetal Hemoglobin; Gestational Age; Humans; Live Birth; Pregnancy; Retrospective Studies; Risk Factors; Treatment Outcome
PubMed: 31505487
DOI: 10.1159/000501554 -
Hemoglobin May 2019The evaluation of a 10-month-old girl of Sicilian origin with a clinical phenotype of severe thalassemia led to the identification of two β-globin gene defects, a...
The evaluation of a 10-month-old girl of Sicilian origin with a clinical phenotype of severe thalassemia led to the identification of two β-globin gene defects, a β-thalassemia (β-thal), mutation at IVS-I-110 (: c.93-21G>A) and a variant hemoglobin (Hb) mutation at codon 114 (: c.344T>C) on the other allele, reported as Hb Durham-N.C. (also known as Hb Brescia) [β114(G16)Leu→Pro] in the HbVar database. A very low Hb level (Hb 3.5 g/dL), microcytosis [mean corpuscular volume (MCV) 63.2 fL] and hypocromia [mean corpuscular Hb (MCH) 19.6 pg], increased red blood cell (RBC) distribution width (RDW) (36.0%), higher reticulocytes (6.2%), anisocytosis, poikilocytosis, hypocromia, basophilic stippling and inclusion body formation, were present in the affected subject. Analysis of other family components showed the presence of : c.93-21G>A defect in the mother and in her brother, while Hb Durham-N.C. was absent in all other relatives, thus, this mutation has arisen as a defect. This is the first case described as a severe thalassemic phenotype in a compound heterozygote carrier of this unstable Hb and a common β-thalassemic allele. The important information gained from this case is that a rare dominant or recessive mutation may arise in every individual, even if this is a very rare event.
Topics: Alleles; Amino Acid Substitution; Biomarkers; DNA Mutational Analysis; Erythrocyte Indices; Female; Heterozygote; Humans; Infant; Mutation; Phenotype; beta-Globins; beta-Thalassemia
PubMed: 31456457
DOI: 10.1080/03630269.2019.1655030 -
Environmental Science and Pollution... Jul 2019The present study was designed to investigate the protective role of dietary supplementation of Spirulina platensis (SP) against cytotoxic and genotoxic effects of lead...
The present study was designed to investigate the protective role of dietary supplementation of Spirulina platensis (SP) against cytotoxic and genotoxic effects of lead nitrate in Clarias gariepinus. Four groups of fishes were used: first group as control which fed on basal diet, second group fed on basal diet and exposed to (1 mg/L of lead nitrate), third group fed on diet containing 0.25% SP and exposed to (1 mg/L of lead nitrate), and fourth group fed on diet containing 0.5%SP and exposed to (1 mg/L of lead nitrate). Fish samples were taken at 2nd and 4th week of exposure. The hematological indices of lead nitrate-exposed group were decreased significantly compared to the control group at 2nd and 4th week of exposure. Lead nitrate caused a significant increase in the percentage of poikilocytosis, micronuclei, and apoptotic cells as well as comet tail length and olive tail moment compared with the control group at 2nd and 4th week of exposure. The highest level of damage was found on 4th week of exposure with all parameters. Dietary inclusion of SP ameliorated these cytotoxic and genetic changes, as well as this amelioration was concentration and time dependent. Consequently, the present study proposed that the addition of SP to the fish diet can be used as a promising protective agent to oppose cytotoxic and genotoxic effects of lead nitrate in aquaculture. Graphical abstract.
Topics: Animal Feed; Animals; Biomarkers; Catfishes; DNA Damage; Dietary Supplements; Lead; Nitrates; Protective Agents; Spirulina; Water Pollutants, Chemical
PubMed: 31104244
DOI: 10.1007/s11356-019-05319-3 -
Journal of Clinical Pathology Aug 2019Iron overload is a major factor contributing to the overall pathology of thalassaemia, which is primarily mediated by ineffective erythropoiesis and shorter mature red... (Comparative Study)
Comparative Study
AIMS
Iron overload is a major factor contributing to the overall pathology of thalassaemia, which is primarily mediated by ineffective erythropoiesis and shorter mature red blood cell (RBC) survival. Iron accumulation in RBCs generates reactive oxygen species (ROS) that cause cellular damage such as lipid peroxidation and RBC membrane deformation. Abnormal RBCs in patients with thalassaemia are commonly known as microcytic hypochromic anaemia with poikilocytosis. However, iron and ROS accumulation in RBCs as related to RBC morphological changes in patients with thalassaemia has not been reported.
METHODS
Twenty-one patients with thalassaemia, including HbH, HbH with Hb Constant Spring and β-thalassaemia/HbE (splenectomy and non-splenectomy) genotypes, and five normal subjects were recruited. RBC morphology was analysed by light and scanning electron microscopy. Systemic and RBC iron status and oxidative stress were examined.
RESULTS
Decreased normocytes were observed in the samples of patients with thalassaemia, with RBC morphological abnormality being related to the type of disease (α-thalassaemia or β-thalassaemia) and splenic status. Target cells and crenated cells were mainly found in splenectomised patients with β-thalassaemia/HbE, while target cells and teardrop cells were found in non-splenectomised patients. Patients with thalassaemia had high levels of serum ferritin, red cell ferritin and ROS in RBCs compared with normal subjects (p<0.05). Negative correlations between the amount of normocytes and serum ferritin (r=-0.518, p=0.011), red cell ferritin (r=-0.467, p=0.025) or ROS in RBCs (r=-0.672, p<0.001) were observed.
CONCLUSIONS
Iron overload and its consequent intracellular oxidative stress in RBCs were associated with reduce normocytes in patients with thalassaemia.
Topics: Adolescent; Adult; Biomarkers; Case-Control Studies; Erythrocytes, Abnormal; Female; Ferritins; Humans; Iron; Iron Overload; Male; Microscopy, Electron, Scanning; Middle Aged; Oxidative Stress; Reactive Oxygen Species; Thalassemia; Young Adult
PubMed: 31010830
DOI: 10.1136/jclinpath-2019-205775 -
Clinico-haematological alterations and therapeutic management of tick borne fever in cross bred cow.Journal of Parasitic Diseases :... Dec 2018A 5 years old crossbred cow was brought to the Veterinary Clinical Complex of Lala Lajpat Rai University of Veterinary and Animal Sciences Hisar with history of...
A 5 years old crossbred cow was brought to the Veterinary Clinical Complex of Lala Lajpat Rai University of Veterinary and Animal Sciences Hisar with history of progressive weakness, pale mucous membrane, anorexia, high fever (105 °F), tachycardia, laboured breathing and coffee coloured urine. Analysis of haematological parameters revealed severe anaemia, leucocytopenia, marked poikilocytosis of erythrocytes. Blood smear examination showed presence of signet ring shaped organisms, piroplasms and condensed dot forms of in the stained erythrocytes. Further animal was treated with buparvaquone @ 2.5 mg/kg b.wt deep I/M in neck region and long acting oxytetracycline at 25 mg/kg b. W. slow I/V daily in normal saline solution for 5 days. Berenil (Diminazene aceturate 5%) injection was also administered @ 1 ml/20 kg b.wt. I/M along with supportive therapy. Clinical signs started to subside 3 days post treatment. Complete recovery was achieved by 4 weeks post treatment however animal succumbed to death due to immunosuppression.
PubMed: 30538366
DOI: 10.1007/s12639-018-1034-7 -
Journal of Hematology Dec 2018The study shows the effect of hyperglycemia on RBCs in terms of morphological changes and their chromic status in women with gestational diabetes mellitus (GDM).
BACKGROUND
The study shows the effect of hyperglycemia on RBCs in terms of morphological changes and their chromic status in women with gestational diabetes mellitus (GDM).
METHODS
A total of 100 pregnant women were enrolled from Maternity and Children Hospital, Qassim, Saudi Arabia including 40 women with confirmed GDM (group-1), 30 women with either type 1 or type 2 diabetes (group-2) and 30 women with normal pregnancy without GDM or pre-gestational diabetes (control group-3). Demographic, anthropometric, medical and biochemical data were obtained from the study subjects. Complete blood count (CBC) and peripheral smears were performed from routine blood samples. Red blood cells (RBCs) morphological analysis was carried out by a hematologist and deviations in size, shape, and staining properties of the RBCs were recorded.
RESULTS
The groups were similar in demographic characteristics (P > 0.05). RBCs showed normocytic and normochromic features in 83.3% patients of group-3 as compared to 57.5% in group-1, 30% in group-2, respectively. Microcytic hypochromic cells and anisocytosis were mostly encountered in group-2 in 53.3% and 93.3% patients respectively (P = 0.000). Forty percent of RBCs in goup-1 showed microcytic and hypochromic characteristics as compared to group-3 (P = 0.015). Additionally, 42.5% group-1 patients had anisocytosis as compared to group-3 (P = 0.003). Poikilocytosis, target cells and macrocytes were mostly observed in group-2.
CONCLUSIONS
Persistent hyperglycemia changes shape, size and hemoglobin contents of RBCs which are associated with the hyperglycemic status and exposure time.
PubMed: 32300429
DOI: 10.14740/jh449w -
Journal of Dietary Supplements Nov 2018Plant species rich in antioxidants (vitamins, flavonoids, lignans, and carotenoids) have been explored for complementary therapy of chronic diseases (cancers, coronary...
Plant species rich in antioxidants (vitamins, flavonoids, lignans, and carotenoids) have been explored for complementary therapy of chronic diseases (cancers, coronary heart disease) and mitigation of pollutant toxicity. This article investigates their ameliorative role on selective hematological and serum biochemical parameters in fluoride-exposed (190 mg/kg body weight) Swiss albino mice pretreated with the antioxidant-rich diet supplements tomato puree (with and without peels), spirulina (cyanobacteria), and lycopene (present in tomato) for 45 days prior to entry into experimental protocol. Compared with standard feed control, diet-modulated controls had more hairy and lustrous white fur, hemodilution, increase in platelet counts (2- to 5-fold), red blood cell (RBC) size (11%-14%), mean corpuscular hemoglobin (Hb) concentration (MCHC; 5%-14%), and serum albumin (23%-27%). Fluoride-exposed mice reared on standard feed had less hairy, pale white, lusterless fur and black nails, reduction in RBC and white blood cell (WBC) counts and Hb content, and morphological abnormalities in RBCs (poikilocytosis). By contrast, fur quality of fluoride-treated diet-modulated groups was similar to standard feed control; counts and morphology of their RBCs and Hb content similar to the respective controls, and increase in WBC counts greater than controls. In comparison to the fluoride-treated standard feed group, platelet counts were higher in the treated mice of the diet-modulated groups. This study thus revealed the hemoprotective role of diet supplements in fluoride-treated mice. Considering the prevalence of fluoride-induced chronic toxicity in developing countries, our findings have relevance in minimizing hematological disorders among people residing in the fluoride-affected areas, because indigenously cultivated low-price tomato fruits are easily available for consumption.
Topics: Animals; Antioxidants; Carotenoids; Diet; Dietary Supplements; Erythrocyte Count; Erythrocyte Indices; Erythrocytes, Abnormal; Fluorides; Hematologic Diseases; Hemoglobins; Leukocyte Count; Lycopene; Solanum lycopersicum; Male; Mice; Plant Extracts; Platelet Count; Serum Albumin; Sodium Fluoride; Spirulina
PubMed: 29336630
DOI: 10.1080/19390211.2017.1401574 -
Blood Dec 2017
Topics: Blood Platelets; Burns; Child, Preschool; Diagnostic Imaging; Elliptocytosis, Hereditary; Erythrocytes; Humans; Leukocytosis; Male; Spherocytes; Thrombocytosis
PubMed: 29269532
DOI: 10.1182/blood-2017-08-802678 -
New Zealand Veterinary Journal Jan 2018To present the haematology and biochemistry profiles for cattle in New Zealand naturally infected with Theileria orientalis Ikeda type and investigate if the results... (Comparative Study)
Comparative Study
AIMS
To present the haematology and biochemistry profiles for cattle in New Zealand naturally infected with Theileria orientalis Ikeda type and investigate if the results differed between adult dairy cattle and calves aged <6 months.
METHODS
Haematology and biochemistry results were obtained from blood samples from cattle which tested positive for T. orientalis Ikeda type by PCR, that were submitted to veterinary laboratories in New Zealand between October 2012 and November 2014. Data sets for haematology and biochemistry results were prepared for adult dairy cattle (n=62 and 28, respectively) and calves aged <6 months (n=62 and 28, respectively), which were matched on the basis of individual haematocrit (HCT). Results were compared between age groups when categorised by HCT. Selected variables were plotted against individual HCT, and locally weighted scatterplot smoothing (Loess) curves were fitted to the data for adult dairy cattle and calves <6 months old.
RESULTS
When categorised by HCT, the proportion of samples with HCT <0.15 L/L (severe anaemia) was greater for adult dairy cattle than for beef or dairy calves, for both haematology (p<0.002) and biochemistry (p<0.001) submissions. There were differences (p<0.05) between adult dairy cattle and calves aged <6 months in the relationships between HCT and red blood cell counts, mean corpuscular volume, mean corpuscular haemoglobin, mean corpuscular haemoglobin concentrations, lymphocyte and eosinophil counts, and activities of glutamate dehydrogenase and aspartate aminotransferase. In both age groups anisocytosis was frequently recorded. The proportion of blood smears showing mild and moderate macrocytosis was greater in adults than calves (p=0.01), and mild and moderate poikilocytosis was greater in calves than adults (p=0.005).
CONCLUSIONS AND CLINICAL RELEVANCE
The haematology and biochemistry changes observed in cattle infected with T. orientalis Ikeda type were consistent with extravascular haemolytic anaemia. Adult dairy cattle were more likely to be severely anaemic than calves. There were differences in haematology and biochemistry profiles between adult dairy cattle and calves, but most of these differences likely had a physiological rather than pathological basis. Overall, the haematological changes in calves aged <6 months appeared less severe than in adult dairy cattle.
Topics: Age Factors; Anemia, Hemolytic; Animals; Blood Chemical Analysis; Cattle; Cattle Diseases; Dairying; Hematocrit; Hematologic Tests; Meat; New Zealand; Polymerase Chain Reaction; Retrospective Studies; Theileria; Theileriasis
PubMed: 29020888
DOI: 10.1080/00480169.2017.1391142