scholarly journals Inherited microcytic anemias

Hematology ◽  
2020 ◽  
Vol 2020 (1) ◽  
pp. 465-470
Author(s):  
Maria Domenica Cappellini ◽  
Roberta Russo ◽  
Immacolata Andolfo ◽  
Achille Iolascon

Abstract Inherited microcytic anemias can be broadly classified into 3 subgroups: (1) defects in globin chains (hemoglobinopathies or thalassemias), (2) defects in heme synthesis, and (3) defects in iron availability or iron acquisition by the erythroid precursors. These conditions are characterized by a decreased availability of hemoglobin (Hb) components (globins, iron, and heme) that in turn causes a reduced Hb content in red cell precursors with subsequent delayed erythroid differentiation. Iron metabolism alterations remain central to the diagnosis of microcytic anemia, and, in general, the iron status has to be evaluated in cases of microcytosis. Besides the very common microcytic anemia due to acquired iron deficiency, a range of hereditary abnormalities that result in actual or functional iron deficiency are now being recognized. Atransferrinemia, DMT1 deficiency, ferroportin disease, and iron-refractory iron deficiency anemia are hereditary disorders due to iron metabolism abnormalities, some of which are associated with iron overload. Because causes of microcytosis other than iron deficiency should be considered, it is important to evaluate several other red blood cell and iron parameters in patients with a reduced mean corpuscular volume (MCV), including mean corpuscular hemoglobin, red blood cell distribution width, reticulocyte hemoglobin content, serum iron and serum ferritin levels, total iron-binding capacity, transferrin saturation, hemoglobin electrophoresis, and sometimes reticulocyte count. From the epidemiological perspective, hemoglobinopathies/thalassemias are the most common forms of hereditary microcytic anemia, ranging from inconsequential changes in MCV to severe anemia syndromes.

2012 ◽  
Vol 7 (1) ◽  
pp. 168 ◽  
Author(s):  
Esam G Abdelrahman ◽  
Gasim I Gasim ◽  
Imad R Musa ◽  
Leana M Elbashir ◽  
Ishag Adam

2017 ◽  
Vol 66 (2) ◽  
pp. 304-308 ◽  
Author(s):  
Susana Coimbra ◽  
Cátia Ferreira ◽  
Luís Belo ◽  
Petronila Rocha-Pereira ◽  
Alice Catarino ◽  
...  

Adipose tissue produces several adipokines that are enrolled in different metabolic and inflammatory pathways that may disturb iron metabolism and erythropoiesis. Considering that laparoscopic adjustable gastric banding (LAGB) has not been associated with a long-term risk of malabsorption, we performed a 13-month follow-up study in severe obese patients submitted to LAGB in order to clarify its impact on inflammation, iron metabolism and on red blood cell (RBC) biomarkers. Twenty obese patients were enrolled in the study, being clinical and analytically assessed before (T0) and 13 months after LAGB intervention (T1). Inflammation, iron bioavailability and RBC biomarkers were evaluated at T0 and T1. At T1, weight and anthropometric indices decreased significantly; patients showed a significant increase in mean corpuscular volume, mean corpuscular hemoglobin and mean corpuscular hemoglobin concentration (MCHC), and a reduction in red cell distribution width, ferritin, hepcidin, tumor necrosis factor-α, interleukin-6 (IL-6) and C-reactive protein. Before LAGB, IL-6 correlated negatively with iron, hemoglobin concentration and MCHC; hepcidin correlated inversely with transferrin. Our data show that 13 months after LAGB, the weight loss is associated with an improvement in inflammation, namely a reduction in IL-6 that may reduce hepcidin production, improving iron availability for erythropoiesis, as shown by more adequate erythrocyte hemoglobinization.


2015 ◽  
Vol 7 (2) ◽  
Author(s):  
Margreet Schoorl ◽  
Marianne Schoorl ◽  
Johannes Van Pelt ◽  
Piet C.M. Bartels

Hemocytometric parameters like red blood cell (RBC) count, mean red blood cell volume (MCV), reticulocyte count, red blood cell distribution width (RDW-SD) and zinc protoporphyrin (ZPP) are frequently established for discrimination between iron-deficiency anemia and thalassemia in subjects with microcytic erythropoiesis. However, no single marker or combination of tests is optimal for discrimination between iron-deficiency anemia and thalassemia. This is the reason why many algorithms have been introduced. However, application of conventional algorithms, only resulted in appropriate classification of 30-40% of subjects. In this mini-review the efficacy of innovative hematological parameters for detection of alterations in RBCs has been considered. It refers to parameters concerning hemoglobinization of RBCs and reticulocytes and the percentages microcytic and hypochromic RBCs, for discrimination between subjects with iron-deficiency anemia (IDA) or thalassemia as well as a combination of both. A new discriminating tool including the above mentioned parameters was developed, based on two precondition steps and discriminating algorithms. The percentage microcytic RBCs is considered in the first pre-condition step. MCV, RDW-SD and RBC count are applied in the second precondition step. Subsequently, new algorithms, including conventional as well as innovative hematological parameters, were assessed for subgroups with microcytic erythropoiesis. The new algorithms for IDA discrimination yielded results for sensitivity of 79%, specificity of 97%, positive and negative predictive values of 74% and 98% respectively. The algorithms for beta-thalassemia discrimination revealed similar results (74%, 98%, 75% and 99% respectively). We advocate that innovative algorithms, including parameters reflecting hemoglobinization of RBCs and reticulocytes, are integrated in an easily accessible software program linked to the hematology equipment to improve the discrimination between IDA and thalassemia.


2018 ◽  
Vol 25 (05) ◽  
pp. 659-663
Author(s):  
Nathumal Maheshwari ◽  
Omperkash Khemani ◽  
Bilawal Hingorjo ◽  
Mehmood Shaikh ◽  
Siri Chand ◽  
...  

Objectives: To evaluate the predictive value of Red blood cell distribution width(RDW) for the iron deficiency anemia in children. Study Design: Cross sectional study. Placeand Duration: Department of Paediatrics, Layari General Hospital Shaheed Muhtrama BenazirBhutto Medical College from December 2015 to March 2016. Methodology: A sample of 100children (53 male and 47 female) was selected through non- probability (purposive sampling). 5ml venous blood was collected, 3 ml was shifted to EDTA containing vacutainers and remainingwas processed and centrifuged to separate sera. Complete blood counts and iron profile wereperformed. Data of cases and controls was analyzed on Statistix 10.0 software (USA) (P ≤0.05).Results: Severe iron deficiency and iron deficiency anemia were noted. Serum Iron, TIBC andFerritin were noted as 63.49±32.94 and 76.06±40.38 μg/dl, 468.7±142.2 and 445.5±135.2 μg/dl, & 36.2±14.12 and 43.2±13.5 ng/dl respectively. RDW proved a sensitivity and specificity of78% and 56% respectively (0.001). Conclusion: We observed severe iron deficiency anemia inchildren and Red blood cell distribution width showed high sensivity in predicting iron deficiencyanemia.


Author(s):  
Anatole Besarab ◽  
Tilman B Drueke

Abstract After a brief review of physiological iron metabolism, we describe diagnostic tests for iron status and iron deficiency anemia in patients without chronic kidney disease (CKD) or inflammation. Thereafter we review the dysregulation of iron metabolism in CKD. Specific emphasis is placed on the role of the ‘inflammatory’ state that develops with the progression of CKD. It invokes changes in iron metabolism that are the exact opposite of those occurring during pure iron deficiency. As a result, transferrin saturation (TSAT) becomes a poorer index of iron availability to the bone marrow and serum ferritin no longer represents iron that can be used during erythropoiesis. We argue that serum iron may provide more information to guide iron therapy than TSAT. In other words, the emphasis on TSAT is misplaced. With the development of a number of hypoxia-inducible factor prolyl hydroxylase inhibitors, which restore iron metabolism toward the ‘physiologic state’, the iron indices indicating sufficient iron availability to avoid functional iron deficiency during therapy of CKD-associated anemia are likely to change. We summarize these changes in the section ‘A peek into things to come!’, citing the available data.


Nutrients ◽  
2018 ◽  
Vol 10 (8) ◽  
pp. 1127 ◽  
Author(s):  
Pei Lin ◽  
Chun-Chao Chang ◽  
Kuo-Ching Yuan ◽  
Hsing-Jung Yeh ◽  
Sheng-Uei Fang ◽  
...  

Red blood cell (RBC) aggregation and iron status are interrelated and strongly influenced by dietary factors, and their alterations pose a great risk of dyslipidemia and metabolic syndrome (MetS). Currently, RBC aggregation-related dietary patterns remain unclear. This study investigated the dietary patterns that were associated with RBC aggregation and their predictive effects on hyperlipidemia and MetS. Anthropometric and blood biochemical data and food frequency questionnaires were collected from 212 adults. Dietary patterns were derived using reduced rank regression from 32 food groups. Adjusted linear regression showed that hepcidin, soluble CD163, and serum transferrin saturation (%TS) independently predicted RBC aggregation (all p < 0.01). Age-, sex-, and log-transformed body mass index (BMI)-adjusted prevalence rate ratio (PRR) showed a significant positive correlation between RBC aggregation and hyperlipidemia (p-trend < 0.05). RBC aggregation and iron-related dietary pattern scores (high consumption of noodles and deep-fried foods and low intake of steamed, boiled, and raw food, dairy products, orange, red, and purple vegetables, white and light-green vegetables, seafood, and rice) were also significantly associated with hyperlipidemia (p-trend < 0.05) and MetS (p-trend = 0.01) after adjusting for age, sex, and log-transformed BMI. Our results may help dieticians develop dietary strategies for preventing dyslipidemia and MetS.


2019 ◽  
Vol 8 (3) ◽  
pp. 107-112
Author(s):  
Aslı Korur ◽  
Didar Yanardag Acik ◽  
Soner Solmaz ◽  
Cigdem Gereklioglu ◽  
Suheyl Asma ◽  
...  

Aim: Anemia is a public health problem worldwide. Cost effectiveness and efficient use of resources are vitally important. Red blood cell distribution width, which can be obtained from a standard complete blood count, is a measure of the variability in size of circulating erythrocytes. The present study was performed to investigate whether red blood cell distribution width can be used to predict response to iron therapy. Methods: This study was conducted in 50 patients admitted to hematology and family medicine clinics. Complete blood count and reticulocyte count were determined on day 5; complete blood count was examined 1 month after commencement of therapy. Results: Statistically significant differences were detected between hemoglobin levels and red blood cell distribution width values at the time of diagnosis and on day 5 and after 1 month of therapy. A significant positive correlation was found between the increase in red blood cell distribution width and the increase in hemoglobin. Conclusion: Red blood cell distribution width may be used in place of reticulocyte count to predict response to iron therapy. Red blood cell distribution width is the best biomarker for this purpose as a component of complete blood count, and therefore it may be accepted as superior to reticulocyte count.


2019 ◽  
Vol 13 (2) ◽  
pp. 026007
Author(s):  
Mei-qing Lei ◽  
Ling-feng Sun ◽  
Xian-sheng Luo ◽  
Xiao-yang Yang ◽  
Feng Yu ◽  
...  

1989 ◽  
Vol 12 (3) ◽  
pp. 170-174 ◽  
Author(s):  
D. Docci ◽  
C. Delvecchio ◽  
C. Gollini ◽  
F. Turci ◽  
L. Baldrati ◽  
...  

Red blood cell volume distribution width (RDW) was obtained with the Coulter counter in 60 haemodialysis patients and 55 normal individuals. RDW tended to be higher in the former and the degree of increase was to some extent correlated with the underlying nephropathy. Although RDW failed to correlate with conventional tests of iron status, it was observed that iron administration could produce a decrease toward normal in RDW and a parallel increase in haemoglobin when the initial RDW was increased. In contrast, the response to iron was negligible in the patients with normal RDW basally. It was concluded that high RDW is an acceptable indicator of iron deficiency in haemodialysis patients.


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