- Molecular analysis of hemoglobinopathies in a large ethnic Hakka population in southern China. [Journal Article]
- MMedicine (Baltimore) 2018; 97(45):e13034
- Thalassemia is an inherited autosomal recessive disorder with microcytic hypochromic anemia resulting from reduced or absent synthesis of 1 or more of the globin chains of hemoglobin. This study prov...
Thalassemia is an inherited autosomal recessive disorder with microcytic hypochromic anemia resulting from reduced or absent synthesis of 1 or more of the globin chains of hemoglobin. This study provided the insight into prevalence and molecular characterization of thalassemia in Hakka population. 14,524 unrelated subjects were included in our study from January 2015 to November 2017. All the subjects were detected by hematological analysis, hemoglobin electrophoresis analysis, and molecular diagnosis (gap-polymerase chain reaction and flow-through hybridization technology). Data analysis was used to compare allele frequencies between the Hakka populations. Seven thousand four hundred twenty-two cases of microcytosis were found. The percentage of microcytosis in Meizhou, Ganzhou, and Heyuan was 50.91% (6738/13,236), 51.27% (445/868), and 56.90% (239/420), respectively. A total of 5516 mutant chromosomes were identified, including 3775 α-thalassemia and 1741 β-thalassemia. --/αα was the most common α-thalassemia genotype, followed by -α/αα and -α/αα, accounted for 84.92% of α-thalassemia genotypes. Twelve kinds of mutations and 26 genotypes in β-thalassemia were found. IVS-II-654(C→T), CD41-42(-TCTT), -28(A→G), and CD17(A→T) alleles accounted for 92.65% of these mutations. IVS-II-654/N, CD41-42/N, -28/N, CD17/N genotypes accounted for 91.53% of β-thalassemia genotypes. 27 fetuses with at-risk pregnancies were subjected to prenatal diagnosis. Five fetuses were Bart's hydrops syndrome and 2 fetuses with β-thalassemia major. There were some differences in molecular characterization of thalassemia among Hakka people in different areas of southern China. Our results enriched the related information of thalassemia in the region, which provided valuable references for the prevention and control of thalassemia.
- Macrocytic anemia is associated with the severity of liver impairment in patients with hepatitis B virus-related decompensated cirrhosis: a retrospective cross-sectional study. [Journal Article]
- BGBMC Gastroenterol 2018 Nov 01; 18(1):161
- CONCLUSIONS: Macrocytic anemia was found to be associated with the severity of liver impairment and might be a predictor for short-term mortality in patients with HBV-related decompensated cirrhosis.
- Comprehensive Laboratory Analysis of Korean Acute Alcoholic Intoxication Patients Reveals the Need for a National Hepatitis B Virus Vaccination Program in Korea. [Journal Article]
- KJKorean J Fam Med 2018 Oct 29
- CONCLUSIONS: Patients with AAIP who were transferred to ED had various laboratory abnormalities (anemia, thrombocytopenia, high HbA1c). They had low positive rate of anti-HBs Ab. This might be a public health problem, suggesting the need of hepatitis B virus vaccination program for AAIP. Our data suggest the need of further nationwide studies.
- Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency. [Journal Article]
- JRJIMD Rep 2018 Oct 23
- CONCLUSIONS: This is the first case documenting neonatal manifestation of ILFS1, highlighting early, severe, and disproportionate defects in liver synthetic function. Timely diagnosis of ILFS1 is crucial to guide critical clinical management and improve outcomes of this rare and potentially life-threatening disorder.
- Infused wild-type macrophages reside and self-renew in the liver to rescue the hemolysis and anemia of Hmox1-deficient mice. [Journal Article]
- BABlood Adv 2018 Oct 23; 2(20):2732-2743
- Heme oxygenase 1 (HMOX1), the inducible enzyme that catabolizes the degradation of heme into biliverdin, iron, and carbon monoxide, plays an essential role in the clearance of senescent and damaged r...
Heme oxygenase 1 (HMOX1), the inducible enzyme that catabolizes the degradation of heme into biliverdin, iron, and carbon monoxide, plays an essential role in the clearance of senescent and damaged red blood cells, systemic iron homeostasis, erythropoiesis, vascular hemostasis, and oxidative and inflammatory stress responses. In humans, HMOX1 deficiency causes a rare and lethal disease, characterized by severe anemia, intravascular hemolysis, as well as vascular and tissue damage. Hmox1 knockout (KO) mice recapitulated the phenotypes of HMOX1-deficiency patients and could be rescued by bone marrow (BM) transplantation that engrafted donor's hematopoietic stem cells into the recipient animals after myeloablation. To find better therapy and elucidate the contribution of macrophages to the pathogenesis of HMOX1-deficiency disease, we infused wild-type (WT) macrophages into Hmox1 KO mice. Results showed that WT macrophages engrafted and proliferated in the livers of Hmox1 KO mice, which corrected the microcytic anemia, rescued the intravascular hemolysis, restored iron homeostasis, eliminated kidney iron overload and tissue damage, and provided long-term protection. These results showed that a single macrophage infusion delivered a long-term curative effect in Hmox1 KO mice, obviating the need for BM transplantation, and suggested that the HMOX1 disease stems mainly from the loss of viable reticuloendothelial macrophages. Our work provides new insights into the etiology of HMOX1 deficiency and demonstrates the potential of infusion of WT macrophages to prevent disease in patients with HMOX1 deficiency and potentially other macrophage-related diseases.
- Associations between iron deficiency anemia and clinical features among pregnant women: a prospective cohort study. [Journal Article]
- JBJ Blood Med 2018; 9:163-169
- CONCLUSIONS: Anemia in general and microcytic hypochromic anemia in particular were significantly associated with higher gravidity and parity. The significant outcome associated with IDA during pregnancy was a lower rate of spontaneous vaginal delivery and antenatal fetal distress. Compliance with iron supplementation in order to prevent maternal and fetal adverse outcomes was observed.
- Correlation of Red Blood Cell Acetylcholinesterase Enzyme Activity with Various RBC Indices. [Journal Article]
- IJIndian J Clin Biochem 2018; 33(4):445-449
- Cholinesterases belongs to class hydrolases. There are two types acetylcholinesterase and butyryl cholinesterase. Acetylcholinesterase present in nerve endings and also in the RBC membrane. It helps ...
Cholinesterases belongs to class hydrolases. There are two types acetylcholinesterase and butyryl cholinesterase. Acetylcholinesterase present in nerve endings and also in the RBC membrane. It helps to maintain the shape and size of RBCs. Any change in shape and size of RBCs may affect the activity of Acetylcholinesterase. Thus this study aimed to estimate RBCs Acetylcholinesterase enzyme activity in various types of anemias and correlate the RBCs Acetylcholinesterase enzyme activity with various hematological indices such as Erythrocyte Sedimentation Rate (ESR), Mean Corpuscular Hemoglobin (MCH), Mean Corpuscular Hemoglobin Concentration (MCHC), Mean Corpuscular Volume (MCV), Red cell Distribution Width (RDW) etc. After obtaining ethical approval from Institutional ethics committee total of 100 samples were collected from Clinical Biochemistry laboratory, Kasturba Medical College, Manipal, Manipal University. 25 were having normal RBC indices, 12 with hemolytic anemia, 26 with microcytic anemia and 26 with macrocytic anemia based on peripheral smear report and RBC indices. Acetylcholinesterase were measured using Ellman's method. RBC acetylcholinesterase activity was significantly increased in microcytic anemia (58.13 ± 5.4) and macrocytic anemia (76.87 ± 6.7) than normal group (37.62 ± 2.71). Also increased RBC acetylcholinesterase was seen in hemolytic anemia (48.11 ± 5.18) but the increase is not statistically significant. RBC acetylcholinesterase correlated negatively with hemoglobin (r = -0.356, p = 0.001) and positively with RDW (r = 0.31, p = 0.003). To conclude RBC acetylcholinesterase activity can be used as one of the potential marker for various types of anemia.
- A 17-Year-Old Girl With Weight Loss and Elevated Inflammatory Markers. [Journal Article]
- PedPediatrics 2018; 142(5)
- A 17-year-old girl presented to her primary care physician with a history of unintentional weight loss and vague sensory symptoms, including tingling of her lower extremities. She had a nonrevealing ...
A 17-year-old girl presented to her primary care physician with a history of unintentional weight loss and vague sensory symptoms, including tingling of her lower extremities. She had a nonrevealing neurology workup and a largely normal rheumatology workup apart from mild elevation in her inflammatory markers. She also had a nonfocal examination apart from a posterior cervical lymph node (2 × 1 cm). Given that she was well appearing, with a nonfocal examination and only mild laboratory abnormalities, she was told to follow-up with rheumatology in 3 months. Around that time, she re-presented to her medical home for a well-child visit, during which she was noted to have continued weight loss, now amounting to 17 lb in 1 year, and marked further elevation in her inflammatory markers. Her laboratory results were also significant for a profound microcytic anemia requiring inpatient admission for blood transfusion. During her admission, she was seen by the rheumatology, gastroenterology, and oncology subspecialty teams. Despite imaging studies and extensive laboratory workup, there was no unifying diagnosis at the time of her hospital discharge. Ultimately, an outpatient imaging study revealed the etiology.
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- BOOKStatPearls Publishing: Treasure Island (FL)
- Thalassemias are a common cause of hypochromic microcytic anemia which arises from the reduced or absent synthesis of the globin chain of hemoglobin. Thalassemias are a quantitative defect of hemoglo...
Thalassemias are a common cause of hypochromic microcytic anemia which arises from the reduced or absent synthesis of the globin chain of hemoglobin. Thalassemias are a quantitative defect of hemoglobin synthesis. This is in contrast with hemoglobinopathies, such as sickle cell disease, which are structural or qualitative defects of hemoglobin. Beta-thalassemia refers to an inherited mutation of the beta-globin gene, causing reduced synthesis of the beta globin chain of hemoglobin. The highest prevalence of beta-thalassemia mutations is in people of Mediterranean, Middle Eastern, and Asian descent. Over 200 different thalassemia-causing mutations have been identified in the beta-globin gene, leading to wide genotypic and phenotypic variability of the disease. The three classifications of beta-thalassemia are defined by their clinical and laboratory findings. Beta-thalassemia minor, also called carrier or trait, is the heterozygous state that is usually asymptomatic with mild anemia. Homozygosity or compound heterozygosity for beta-thalassemia mutations cause a more severe spectrum of anemias called beta-thalassemia intermedia and beta-thalassemia major. These two are distinguished clinically by transfusion dependence. Beta-thalassemia major requires routine transfusions, and intermedia does not. Laboratory findings suggestive of thalassemia include microcytic anemia with a reference range or increased red blood cell count and a reference range red cell distribution width. On peripheral smear, red blood cells are hypochromic with increased target cells. There may be significant anisopoikilocytosis (variation of size and shape) in cases of beta-thalassemia major. Exclusion of iron deficiency and hemoglobin electrophoresis or high-performance liquid chromatography are often required for diagnosis. Treatment is primarily with blood transfusion, depending on the degree of anemia. Complications of beta-thalassemia include iron overload and bone-deforming marrow expansion with extramedullary hematopoiesis.
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- The role of red cell distribution width in the differential diagnosis of iron deficiency anemia and non-transfusiondependent thalassemia patients. [Journal Article]
- HRHematol Rep 2018 Sep 05; 10(3):7605
- This study aims to find the cut-off value and diagnostic accuracy of the use of RDW as initial investigation in enabling the differentiation between IDA and NTDT patients. Patients with microcytic an...
This study aims to find the cut-off value and diagnostic accuracy of the use of RDW as initial investigation in enabling the differentiation between IDA and NTDT patients. Patients with microcytic anemia were enrolled in the training set and used to plot a receiving operating characteristics (ROC) curve to obtain the cut-off value of RDW. A second set of patients were included in the validation set and used to analyze the diagnostic accuracy. We recruited 94 IDA and 64 NTDT patients into the training set. The area under the curve of the ROC in the training set was 0.803. The best cut-off value of RDW in the diagnosis of NTDT was >21.0% with a sensitivity and specificity of 81.3% and 55.3% respectively. In the validation set, there were 34 IDA and 58 NTDT patients using the cut-off value of 21.0% to validate. The sensitivity, specificity, positive predictive value and negative predictive value were 84.5%, 70.6%, 83.1% and 72.7% respectively. We can therefore conclude that RDW >21.0% is useful in differentiating between IDA and NTDT patients with high diagnostic accuracy.