بنام خدا

1. بنام خدا

2. آنمی های شایع در کودکان

3. DEFINITION OF ANEMIA: • Anemia may be defined as a reduction in red blood cell mass or blood hemoglobin concentration. • It is particularly important to use age and sex adjusted norms when evaluating a pediatric patient for anemia

4. Normal limit of Hb in children:

5. CLASSIFICATIONS OF ANEMIA : • Physiologic classification • Morphologic classification • Mean corpuscular volume

6. Anemia • Blood loss (acute)Normal spleen, high retic count, normal bilirubin, normal urinalysis • Hemolytic anemia Splenomegaly, increased reticulocyte count, high bilirubin (indirect), urobilinogen or hemoglobinuria • Impaired red cell formationNormal spleen, low retic count, normal bilirubin, normal urinalysis Retic, bilirubin, spleen, U/A,

7. Approch to anemia : blood loss(Acute): (Normal spleen, high retic count, normal bilirubin, normal urinalysis) • Neonatal problem (fetofetal transfusion, fetomaternal transfusion,…) • Hemorrhagic disease of newborn • Meckel’s diverticulum, …..

8. Anemia • Blood loss (acute) • Hemolytic anemia Splenomegaly, increased reticulocyte count, high bilirubin (indirect), urobilinogen or hemoglobinuria • Impaired red cell formation

9. Approch to anemia: Hemolytic anemia (Splenomegaly, increased reticulocyte count, high bilirubin (indirect), urobilinogen or hemoglobinuria): 1) Corupuscular: 2) Extra corpuscular • Enzyme defect, • Membrane defect, • Hemoglobin disorder • immune, • non immune

10. Hemolytic anemia: Corpuscular 1) Enzyme defect: • G6PD deficiency • PK deficiency

11. Glucose 6 phosphate dehydrogenase(G6PD)

12. G6PD DEFICIENCY: • X-linked disorder • Affecting 200 to 400 million people • Contains 515 amino acids • Over 400 variant enzymes have been reported (90 according to specific mutations)

13. Classification of G6PD variants: • Class I variants: are rare, have severe enzyme deficiency (less than 10 percent of normal) and have chronic hemolytic anemia(44 variants) • Class II variants : have severe enzyme deficiency, but there is usually only intermittent hemolysis (28 variants) • Class III variants: have moderate enzyme deficiency (10 to 60 percent of normal) with intermittent hemolysis usually associated with infection or drugs (16 variants) • Class IV variants: have no enzyme deficiency or hemolysis(2 variants) • Class V variants: have increased enzyme activity

14. PATHOPHYSIOLOGY OF G6PD DEFICIENCY: • The in vivo half-life of enzyme: normal enzyme (G6PD B): 62 days, G6PD A- :13 days, G6PD Mediterranean: in hours • G6PD A- : Patients usually have hemolysis that is mild and limited to older deficient erythrocytes (class III). • G6PD B+(Mediterranean): red cells of all ages are grossly deficient (class II).

15. DIAGNOSIS: • Clinical presentation (should be considered in the differential diagnosis of any nonimmune hemolytic anemia) • Laboratory findings: Hemolysis (Hb, Retic count, bilirubin, hemoglobinemia, hemoglobinuria), PBS (polychromatophlia,Heinz bodies, bite cells ),Rate of NADPH generation

17. Hemolytic anemia: Corpuscular 1) Enzyme defect: • G6PD deficiency • PK deficiency

18. Pyruvatekinase deficiency : • Clinical presentation : a broad spectrum of clinical and hematologic findings occurs, ranging from a mild, completely compensated hemolytic state to severe anemia. Anemia and hyperbilirubinemia may occur in the neonatal period. In the older patient, pallor, scleral icterus, and splenomegaly are usual findings.

19. Pyruvatekinase deficiency : • Laboratory findings : • Elevated reticulocyte count. • A few small spiculated erythrocytes • No increased number of spherocytes • Osmotic fragility is normal.

20. Hemolytic anemia: Corpuscular • Enzyme defect • Membrane defect: • Spherocytosis, • Elliptocytosis

21. Membrane defect:Spherocytosis • Pathophysiology : A deficiency or abnormality of the erythrocyte membrane structural protein: spectrin , ankyrin, band 3, and protein 4.2. • The spherocyte is relatively rigid and non-deformable

22. Membrane defect:Spherocytosis • Clinical presentation: anemia, hyperbilirubinemia, splenomegaly Expansion of the marrow cavities . • Laboratory findingsreticulocytosis, anemia, hyperbilirubinemia, spherocyte in PBS, Erythroidhyperplasiain BMA, osmotic fragility test, Autohemolysis,

25. Hemolytic anemia: Corpuscular 1)Enzyme defect 2) Membrane defect 3) Hemoglobin disorder • Normal variant, • Functional disorder, • Structural problem, • Thalassemia

31. Hemolytic anemia:Hemoglobin disorder: Normal variant, Functional disorder, Structural problem, Thalassemia

36. عوارض کم خونی • تغییرات استخوانی • بزرگی طحال • خون سازی خارج مغز استخوان • شکستگی پاتولوژ یک • افت سطح هوشی • زخم اندام تحتانی • توقف رشد • عوارض سیستم انعقادی

37. Hemolytic anemia: Extracorpuscular • Immune: • Nonimmune: • Alloimmune, • isoimmune, • Autoimmune • HUS syndrome, • TTP, • DIC, • Infection, • Burn, • Hypersplenism, ……..

38. Typical Hemolytic Uremic Syndrome: • In the majority of cases, Stx HUS is associated with strains of Escherichia coli that produce a Shiga toxin • D+ HUS associated with Shigelladysenteriae serotype 1 will be included in the discussion of Stx HUS • Cases of HUS in children due to Shiga toxin-producing E. coli infections other than colitis (e.g. UTI) can occur .

41. Anemia • Blood loss (acute) • Hemolytic anemia • Impaired red cell formationNormal spleen, low retic count, normal bilirubin, normal urinalysis

42. Approch to anemia: Impaired red cell formation(Normal spleen, low retic count, normal bilirubin, normal urinalysis) 1)Deficiency 2)Bone marrow failure 3)Bone marrow infiltration Iron deficiency Megaloblastic anemia vitamins, Thyroxine deficiency Failure of a single cell line Failure of all cell line: Malignant: Non malignant:

43. Approch to anemia: Impaired red cell formation(Normal spleen, low retic count, normal bilirubin, normal urinalysis) 1)Deficiency 2)Bone marrow failure 3)Bone marrow infiltration Iron deficiency Megaloblastic anemia vitamins Thyroxine deficiency

44. Clinical manifestationof IDA;Hematological symptoms • The most common presentation of IDA is an otherwise asymptomatic, well nourished infant or child who has a mild to moderate microcytic, hypochromic anemia

45. Clinical manifestation of IDA;Non hematological symptoms • Neurodevelopmental and Cognitive function • Immunity • Exercise capacity • Pica and pagophagia • Thrombosis • Epithelial change: dysphagia, esophageal web, atrophic glossitis, spoon nails, blue sclerae

46. Approch to anemia: Impaired red cell formation(Normal spleen, low retic count, normal bilirubin, normal urinalysis) 1)Deficiency 2)Bone marrow failure 3)Bone marrow infiltration Failure of a single cell line : CPRA, TEC, A.crisis Failure of all cell line: Aplastic anemia

47. Fanconi Anemia:Clinical features • Incidence is 3/1,000,000 • Heterozygote frequency ~1/300 in U.S. and Europe • Median age at diagnosis is 5-7 • Median survival is 20-30 yrs. • Phenotypic variability occurs even within families

48. Frequency of abnormalities in FA

49. Approch to anemia: Impaired red cell formation(Normal spleen, low retic count, normal bilirubin, normal urinalysis) 1)Deficiency 2)Bone marrow failure 3)Bone marrow infiltration Malignant:Leukemia… Non malignant: Metabolic disease Osteopetrosis