Anemia, defined as hemoglobin level under lower normal limit, is a symptom of different pathologic conditions and the accurate differential diagnosis is necessary to determine the cause of anemia. The article uses the morphological classification of anemia to distinguish macrocytic, normocytic and microcytic types of anemias and divides anemias with increased amount of peripheral blood reticulocytes as a special group. It describes commonly known clinical units as iron deficiency anemia or anemia of chronic disease, as so as rare clinical units, which are always need to think about in a differential diagnosis of an anemic patient. There is an increasing incidence of rare blood disorders due to introduction of molecular genetics methods into diagnostics, prolonged overall survival of patients and increasing migration from areas with endemic occurrence of these diseases. Etiology, basic pathophysiological mechanisms, main clinical features together with important diagnostic examinations are described by each clinical unit. Due to the differential diagnostic focus of the article only basic knowledge about therapy is mentioned. The authors are members of the IHBT Center for Rare Disorders of Hematopoiesis, which is focused mainly on congenital and acquired disorders of red blood cell. Key words: anemia - differential diagnosis - enzymopathies - hemoglobinopathies - iron - macrocytosis - microcytosis - rare blood disorders - reticulocytosis.

• MeSH
• anemie z nedostatku železa * diagnóza   MeSH
• anemie * diagnóza   MeSH
• chronická nemoc MeSH
• diferenciální diagnóza MeSH
• lidé MeSH
• železo MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• železo MeSH

In the majority of cases, microcytosis is the result of impaired hemoglobin synthesis. Disorders of iron metabolism and protoporphyrin and heme synthesis, as well as impaired globin synthesis, lead to defective hemoglobin production and to the generation of microcytosis and microcytic anemia. Iron deficiency anemie, anemia of chronic diseases, thalassemias, congenital sideroblastic anemias and homozygous HbE disease are the main representatives of microcytosis and microcytic anemias. Serum iron, total iron binding capacity, transferrin saturation, serum ferritin, serum transferrin receptor, transferrin receptor-ferritin index, and zinc-protoporhyrin concentration in erythrocytes are tests used for assessment of iron deficiency. The convention laboratory test for diagnosing iron deficiency is the measurement of serum ferritin. The most precise method for evaluating body iron stores is the examination for iron on aspirated bone marrow or marrow biopsy. Increased content of Hb A2 over 3.5% is diagnostic for beta-thalassemia. Presence of ringed sideroblasts is characteristic of sideroblastic anemias. Hemoglobin electrophoresis is required for the diagnosis of hemoglobinopathy E. The optimal therapeutic regimen in iron deficiency anemia used in this country is to administer 100 mg of elemental iron twice daily separately from meals. Ferrous sulphate (Ferronat Retard tbl. or Sorbifer Dulures tbl.) which are slow-releasing iron formulations are preferred because of their low cost, high bioavailability and low side-effects. Parenteral iron therapy is justified only in patients who cannot absorb iron, who have blood losses that exceed the maximal absorptive capacity of their intestinal tract or who are totally intolerant of oral iron. However, parenteral iron therapy may be associated with serious and even fatal side-effects.

• MeSH
• anemie z nedostatku železa krev   diagnóza   MeSH
• diferenciální diagnóza MeSH
• hypochromní anemie * krev   diagnóza   MeSH
• lidé MeSH
• talasemie krev   diagnóza   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• přehledy MeSH

• MeSH
• aplastická anemie klasifikace   vrozené   diagnóza   MeSH
• diferenciální diagnóza MeSH
• erytropoéza * MeSH
• lidé MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH

• MeSH
• diferenciální diagnóza MeSH
• genetické nemoci vrozené MeSH
• hemoglobinopatie diagnóza   MeSH
• hemolytické anemie enzymologie   etiologie   genetika   MeSH
• lidé MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• diferenciální diagnóza MeSH
• dospělí MeSH
• lidé MeSH
• pyridoxin terapeutické užití   MeSH
• sideroblastická anemie vrozené   diagnóza   farmakoterapie   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• pyridoxin MeSH

The article deals with contemporary views on anaemia associated with chronic diseases. The authors present the definition of this nosological unit, draw attention to its high incidence in clinical practice and fact that it is frequently mistaken for iron deficiency anaemia. The authors submit a review of the most frequent diseases which cause the development of this type of anaemia and analyze the role of activation of the system of cellular immunity, the monocyte-macrophage system, agents of the cytokine network in inhibition of proliferation and differentiation of erythroid precursors, reduced production of endogenous erythropoietin with a reduced sensitivity of erythroid progenitor cells to its action and impaired iron homeostasis and inhibition of its reutilization. Special attention is devoted to diagnostic and differential diagnostic criteria in relation to other types of anaemia caused by impaired haeme synthesis and some secondary multifactorially conditioned types of anaemia. More detailed attention is paid to the diagnostic value of evaluating serum levels of soluble transferrin receptors and explanation of the asset of calculation of the transferrin receptor/ferririn index as a sensitive indicator of latent sideropenia as well as the Fe-absorption test using low oral iron doses. Part of the paper is also an account of contemporary possibilities of treatment including the use of the recombinant form of human erythropoietin, and attention is drawn to the unsuitability and pitfalls of iron therapy in this type of anaemia.

• MeSH
• anemie diagnóza   etiologie   terapie   MeSH
• chronická nemoc MeSH
• diferenciální diagnóza MeSH
• lidé MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• přehledy MeSH

• MeSH
• aplastická anemie diagnóza   MeSH
• biochemické jevy MeSH
• biochemie MeSH
• diferenciální diagnóza MeSH
• erytrocyty * MeSH
• lidé MeSH
• nemoci kostní dřeně diagnóza   MeSH
• vyšetřování kostní dřeně MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

INTRODUCTION: Megaloblastic anemia (MA) represents a subtype of macrocytic anemia caused by impaired DNA synthesis, mostly due to folate and vitamin B12 deficiency. Its mildest forms lead to macrocytosis without concomitant anemia, but more severe forms to thrombocytopenia and/or leucopenia as well. In majority of the cases, the diagnosis of MA dose not represent a serious clinical problem, however, other causes of macrocytosis including myelodysplastic syndrome (MDS) must be excluded. MATERIAL AND METHODS: In the period 2004-2015 we identified in our registry 126 consecutive bone marrow (BM) biopsies of patients with cytopenia/s in peripheral blood and suspicion either on MA or MDS of refractory anemia (RA) type. We performed a retrospective analysis of BM biopsies focused on evaluation of parameters useful for the differential diagnosis, as represented by (a) cellularity and proportions of BM precursors, (b) and their topography, (c) presence of maturation defects and dysplastic changes, (d) grade and extent of myelofibrosis, (e) iron deposits and (f) presence of "inflammatory" response in BM. Histological analyses were supported by immunohistochemical examinations. RESULTS: The series consisted of biopsies of 126 patients (61 men and 65 women) with average age 63 (14-88 years) - almost all patients (121/126) presented with anemia. Based on the findings we distinguished three diagnostic groups - MA (31 patients), MDS-RA (39) and bioptically unclasifiable case ("DIF DG" - 56 patients). Abnormalities of the BM cellularity were observed in 81 % and of topography in 73 % of all cases respectively. Megalobastic differentiation of erythropoesis was detected in 79 % and diagnostic dysplastic changes in 25 % of all biopsy cases. In 29 % of all biopsies ring sideroblasts were present, megakaryocytic nuclear lobulisation defects density changes were found in 61 % of all patients. In 14 % of all biopsies the BM myelofibrosis was absent, in contrast 5 % of the biopsies showed severe diffuse fibrosis. "Inflammatory" response was developed in 44 % of all biopsies. Iron deposits were absent in 26 %, decreased in 35 % and increased in 33 % of all the cases. CONCLUSIONS: From the point of view of histopathologist it seems to be difficult to distinguish BM hematopoietic changes in patients with MA and MDS-RA respectivelly, as histological examinations allowed determination of a definitive and correct diagnosis in about 55% of the cases. The crucial problem represents a decision whether the observed changes really result from the development of a clonal disease.Key words: megaloblastic anemia - megaloblastic differentiation - refractory anemia.

• MeSH
• biopsie MeSH
• diferenciální diagnóza MeSH
• dospělí MeSH
• kostní dřeň patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• megaloblastová anemie diagnóza   patologie   MeSH
• mladiství MeSH
• mladý dospělý MeSH
• myelodysplastické syndromy diagnóza   patologie   MeSH
• primární myelofibróza diagnóza   patologie   MeSH
• retrospektivní studie MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

• Klíčová slova
• ANEMIA, HEMOLYTIC/diagnosis *, CHROMIUM/radioactive *,
• MeSH
• anemie * MeSH
• cévnaté rostliny * MeSH
• chrom * MeSH
• diferenciální diagnóza * MeSH
• hemolytické anemie diagnóza   MeSH
• lidé MeSH
• radioaktivita * MeSH
• radioizotopy chromu * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• chrom * MeSH
• radioizotopy chromu * MeSH

• MeSH
• anemie krev   MeSH
• diferenciální diagnóza MeSH
• hematologické komplikace těhotenství krev   MeSH
• lidé MeSH
• těhotenství MeSH
• Check Tag
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH