Child with pallor & jaundice (hemolytic anemia)

Child with pallor and jaundice� (hemolytic anemia)

1. } رَبِّ اشْرحْ لي صدْري ويسِّرْ ليَ أمري واحْلُلْ عُقدةً من لِّساني يَفْقهوا قوْلِي { بِســْــــــــــــمِ الله الرّحمن الرّحيـــــــــــــمِ

2. Child with pallor and jaundice by 5 th year medical students_ Tripoli university group 6 ( Haemolytic anaemia )

3. CONTENTS Introduction Sickle cell anemia Autoimmune (AIHA) Thalassemia

4. Jaundice is yellowish discoloration of skin and mucous membranes due to ↑ in blood bilirubin Pallor is   is a pale color of the skin which can be caused by illness, emotional shock or stress, or anemia,,, and is the result of a reduced amount of  oxyheamoglobin  in skin or mucous membranes Anemia is HB level below the normal rage according To age Neonate <14g/dl 1_12 months <10g/dl 1-12 year<11g/dl Anaemia results from the following mechanisms: 1_reduced red cell production - either due to ineffective erythropoiesis (e.g . iron deficiency, the commonest cause of anaemia ) or due to red cell aplasia 2 _blood loss 3-increased red cell destruction ( haemolysis )

5. What is hemolytic anemia? It is ↓ red cell life span due to ↑ red cell destruction in the circulation ( intravascular ) or in liver & spleen (extravascular ) note : BM can ↑ production about 8 fold , so symptoms & signs of hemolytic anemia appear when the BM no longer able to compensate for the premature destruction of RBCs ( exeeding BM capacity for compensating)

6. H aemolytic anaemia Red cell mem disord. Immune Haemoglobinopathies Red cell enzyme disord. Hereditary Spherocytosis G6PDH Def. Thalassaemia AIHA Sickle cell anemia

7. Hereditary spherocytosis : A genetic disorder of the red blood cell membrane clinically characterized by anemia, jaundice (yellowing) and splenomegaly M.O.I   It is AD disease . Defect or Deficiency of Beta Spectrin or Ankyrin  Loss of membrane surface area becomes more spherical Destruction in Spleen Clinical picture * jaundice - usually develops during childhood but may be intermittent; may cause severe haemolytic jaundice in the first few days of life * anaemia - presents in childhood with mild anaemia ( haemoglobin 9-11g/dl), but the haemoglobin level may fall with an intercurrent infection; many children have 'compensated' haemolysis with a normal haemoglobin * splenomegal y - depends on the rate of haemolysis ; * gallstones - due to increased bilirubin excretion

8. Investigation CBC Blood film Osmotic fragility test

9. Treatment oral folic acid as they have a raised folic acid requirement secondary to their increased red blood cell production. . Splenectomy is beneficial but is only indicated for poor growth or troublesome symptoms of anaemia (e.g. severe tiredness)

10. Autoimmune Hemolytic Anemia: ( AIHA) Autoimmune disease involving auto-antibodies directed toward RBC surface antigens leading to accelerated destrution (hemolysis).

11. Etiology: Idiopathic (most common cause). Autoimmune disease: (SLE,RA). Neoplastic: e.g lymphoma, myeloma Drugs: methyldopa,penicillin Infection: mycoplasma, EBV

12. Clinical picture: _ Anemia + jaundice. _  hand, foot and cyanosis   ( cold type ). _ splenomegaly ( warm type ).

13. Two main types: % Site Antibody Active temperature Treatment Warm AIHA 80% of cases Extravascular hemolysis IgG 37 degree Steroids & splenectomy. Cold AIHA 20% of cases Intravascular hemolysis IgM 4 degree Warming & plasmapheresis.

14. Investigation: _CBC: normocytic normochromic or macrocytic hyperchromic. _Blood film: spherocytosis, schistocytes. _Direct antiglobuline test (Coombs’ test) : +ve

15. treatment: _Treat underlying causes. _Corticosteroids: response may take 3 weeks _Splenectomy. _Immunosuppressive therapy. _Blood transfusion.

16. T halassemia Genetic disorders of Hb synthesis with ↓ produc.of either α or ß polypeptide chains of Hb molecules ( α- thalass . or ß- thalass .) M.O.I : AR ß - thalass . Major ( bld transfusion dependant ) Minor ( Asymp .) Carrier Carrier Diseased 2 genes for ß-globin , 4 for α -chain Onset : ≥ 6 months “ complete switch from fetal Hb α 2 δ 2 to adult Hb α 2ß2 “

17. H istory Onset of anemia > 6 months Symptoms of anemia FTT History of frequent blood transfusion not improve with iron supplement “ if minor” positive FH

18. C\P & c omplic . Thalassaemic face Causes of mortality: high output HF from sever Anm . or iron overload

19. Investigation MCH ↓& CBC : ↑ Retics . \ ↓MCV Bld film \ target cells (T) , Poikilocytes (p) , microcytes (M) Hb electrophoresis :↑↑ Hb F US “gall stone” Imaging :

20. Pathological fracture SC compression

21. Management 1-Monthly bld transfusion ( aim : Hb >10g\dl , reduce growth failure , prevent bone deformation) 2- Iron chelation therapy (each unit of transfused RBCs contain 200mg elemental iron) 3- Folic acid (hyperactive BM) 4- Splenectomy (if hyperactive \ after vaccination). 5- Cholecystectomy (for bilirubin stone) * gene therapy “deliver globin gene into cells by viral vector” * Emerging therapy “induce F- Hb by butyrates ” * BM transplant : (young , HLA match, no organ dysfunction.)

22. What is the Difference ß- thalass.minor & IDA ? Note : ( both are microcytic hypochromic ) Iron def. anemia ß-Thalassemia minor Reticulocytes ↓ Reticulocytes ↑ No abnormal cells , ↓ RDW Target cells in bld film, normal RDW Serum ferritin ↓ Serum ferritin ↑ IRBC ↑ IRBC ↓ normal Hb Hb A2 By electrophoresis ↑

23. 1 α -gene Normally we have 4 α - globin genes All α -gene 2 α -gene 3 α -gene Silent carrier α- thalass . trait HHD Hb - H α- thalas . major ” Hb barts hydrops fetalis ” α - thalassaemia Asymptomatic

24. References Illustrated textbook of pediatrics www.Medscape.com www.pubMed.com www.Sehha.com