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Approach to Anemia in Approach to Anemia in ChildrenChildren

Dr.Hekmati MoghaddamDr.Hekmati Moghaddam

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Case 1Case 1 A 2- years old baby with following A 2- years old baby with following

CBC refers to you. History and CBC refers to you. History and physical examination were normal,physical examination were normal,

Hg: 12.1Hg: 12.1Hct: 36.3Hct: 36.3RBC: 4.6 RBC: 4.6 MCV: 76MCV: 76MCH:26MCH:26

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Question 1Question 1

What is your recommendation?What is your recommendation?

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Question 2Question 2

If ferritin and hemoglobin If ferritin and hemoglobin electrophoresis were normal, what is electrophoresis were normal, what is next step? next step?

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Case 2Case 2

A Pregnant women with the history A Pregnant women with the history of anemia in herself and her of anemia in herself and her husband and one of her children husband and one of her children refers to you with the following lab refers to you with the following lab tests:tests:

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Father:Father: Hb: 11 RBC: 5.9 MCV: 74 HbA2: 1.2%Hb: 11 RBC: 5.9 MCV: 74 HbA2: 1.2% Deletion of 2 Deletion of 2 αα gene gene

Mother:Mother: Hb: 10.5 RBC: 5.9 MCV: 63 HbA2: 6%Hb: 10.5 RBC: 5.9 MCV: 63 HbA2: 6%

ββ gene mutation, normal gene mutation, normal αα gene gene

Daughters:Daughters:

Hb: 13 RBC: 4.9 MCV: 83 HbA2: 2.4Hb: 13 RBC: 4.9 MCV: 83 HbA2: 2.4

Hb: 11 RBC: 6 MCV: 71 HbA2: 1.1Hb: 11 RBC: 6 MCV: 71 HbA2: 1.1

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QuestionQuestion

What is your recommendation?What is your recommendation?

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Approach to the Approach to the child with anemia child with anemia

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Definition of AnemiaDefinition of Anemia

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Classification of anemia Classification of anemia

(Morphologic)(Morphologic)

MicrocyticMicrocytic

MacrocyticMacrocytic

NormocyticNormocytic

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History takingHistory taking

Patients with Patients with inherited etiologiesinherited etiologies often often present in childhoodpresent in childhood. . Thus, when Thus, when evaluating the history of an anemic evaluating the history of an anemic patient, one must not only review the patient, one must not only review the symptoms of the patient, but also ask symptoms of the patient, but also ask pointed questions regardingpointed questions regarding

family historyfamily history

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Severity and initiation of symptomsSeverity and initiation of symptoms Questions relating to hemolytic episodes Questions relating to hemolytic episodes Prior therapy or anemic episodes Prior therapy or anemic episodes Questions about possible blood loss Questions about possible blood loss Underlying medical conditions Underlying medical conditions Prior drug or toxin exposure Prior drug or toxin exposure Questions relating to diet Questions relating to diet Birth history Birth history Developmental milestones Developmental milestones Family history, race, and ethnicity Family history, race, and ethnicity

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Physical examinationPhysical examination

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Clinical pallor in the conjunctiva, palm, Clinical pallor in the conjunctiva, palm, and nail beds was detected in only 20 and nail beds was detected in only 20 percent of those with percent of those with HGB <11.0 gHGB <11.0 g//dLdL and 61 percent of those with severe and 61 percent of those with severe anemia anemia ((HGB <7.0 gHGB <7.0 g//dLdL))

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LABORATORY EXAMINATIONLABORATORY EXAMINATION

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Blood smearBlood smear Red blood cell indicesRed blood cell indices Red cell distribution widthRed cell distribution width Reticulocyte countReticulocyte count White blood count and platelet countWhite blood count and platelet count

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In the pediatric population, many blood samples In the pediatric population, many blood samples obtained for anemia screening are capillary samples obtained for anemia screening are capillary samples such as such as finger or heel finger or heel ""stickssticks." ." Although these Although these means of sampling are acceptable, one must keep in means of sampling are acceptable, one must keep in mind that HGB and HCT values may be mind that HGB and HCT values may be slightly slightly elevatedelevated in such samples as compared to venous in such samples as compared to venous samples when using automated counting methods. samples when using automated counting methods. This difference may be more pronounced when This difference may be more pronounced when using microhematocrit measurements from capillary using microhematocrit measurements from capillary samples. Although the likelihood of masking samples. Although the likelihood of masking significant anemia is low, borderline low values significant anemia is low, borderline low values may be "normalized" using the capillary collection may be "normalized" using the capillary collection and processing method. and processing method.

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The laboratory examination should begin The laboratory examination should begin with a complete blood count including with a complete blood count including red red blood cell indicesblood cell indices, a , a Reticulocyte countReticulocyte count, , and a review of the and a review of the peripheral blood peripheral blood smearsmear

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The red cell distribution width The red cell distribution width ((RDWRDW) ) is a is a quantitative measure of the variability of quantitative measure of the variability of RBC sizes in the sample RBC sizes in the sample ((anisocytosisanisocytosis).).

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The RDW is a function of MCV and, The RDW is a function of MCV and, therefore, normal values vary slightly with therefore, normal values vary slightly with ageage. . However, normal values generally fall However, normal values generally fall between 12 and 14 percentbetween 12 and 14 percent

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The RDW is especially helpful in The RDW is especially helpful in differentiating Idifferentiating Iron deficiencyron deficiency from from thalassemiathalassemia in the pediatric patient with in the pediatric patient with microcytic anemiamicrocytic anemia. . Patients with a RDW Patients with a RDW greater than 20 are more likely to have greater than 20 are more likely to have Iron deficiency, whereas patients with Iron deficiency, whereas patients with normal RDW values are more likely to normal RDW values are more likely to have thalassemia or the anemia of chronic have thalassemia or the anemia of chronic diseasedisease

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Table 3.1 Some causes of microcytosis. Inherited β thalassaemia heterozygosity (β thalassaemia trait, β thalassaemia minor) β thalassaemia homozygosity or compound heterozygosity (β thalassaemia major or intermedia) δβ and γδβ thalassaemia heterozygosity or δβ thalassaemia homozygosity Haemoglobin Lepore heterozygosity or homozygosity Hereditary persistence of fetal haemoglobin homozygosity and some instances of heterozygosity α0 thalassaemia heterozygosity α+ thalassaemia homozygosity or, to a lesser extent, heterozygosity Haemoglobin Constant Spring heterozygosity Haemoglobin H disease Sickle cell heterozygosity [6,7] (disputed, see p. 303) Haemoglobin C heterozygosity [6,7] and homozygosity Sickle cell/haemoglobin C disease [8] Haemoglobin E heterozygosity [9] and homozygosity [10] Haemoglobin D-Los Angeles (D-Punjab) heterozygosity Heterozygosity for other rare abnormal haemoglobins producing thalassaemia-like conditions (e.g. haemoglobin Tak, haemoglobin Indianapolis) Congenital sideroblastic anaemia Atransferrinaemia Ferrochelatase deficiency (erythropoietic protoporphyria) [11] Hepatoerythropoietic porphyria [12] Associated with iron overload but with absent bone marrow iron [13] Associated with elliptocytosis [14] Inherited iron malabsorption plus defect in incorporation of iron [15] Acaeruloplasminaemia [16] Copper deficiency [17] Haem oxygenase deficiency [18] Homozygosity for DMT1 mutation [19] Acquired Iron deficiency (including bone marrow iron deficiency in pulmonary haemosiderosis) Anaemia of chronic disease Myelodysplastic syndromes, particularly but not only [20] associated with acquired haemoglobin H disease Secondary acquired sideroblastic anaemia (e.g. caused by various drugs; some cases of lead poisoning and some cases of copper deficiency [21] or zinc excess with

functional copper deficiency, e.g. ingestion of zinccontaining coins as a feature of mental illness) [22–24]; ? hyperzincaemia with hypercalprotectinaemia (nature of anaemia not specified) [25]

Hyperthyroidism [26] Ascorbic acid deficiency (rarely) [27] Cadmium poisoning [28] Aluminium poisoning Antibody to erythroblast transferrin receptor [29]

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