ENZYME DEFICIENCY ENZYME DEFICIENCY ANEMIA ANEMIA

MICROANGIOPATHIC MICROANGIOPATHIC HEMOLYTIC ANEMIA HEMOLYTIC ANEMIA

ABNORMALITIES OF ABNORMALITIES OF CELLSCELLS

ROLL # O1ROLL # O1 ROLL # 02ROLL # 02 ROLL # 03ROLL # 03 ROLL # 05 ROLL # 05

ENZYME DEFICIENCY ANEMIAENZYME DEFICIENCY ANEMIAPYRUVATE KINASE DEFICIENCYPYRUVATE KINASE DEFICIENCY

Inherited Inherited metabolic metabolic disorderdisorder

Autosomal Autosomal recessiverecessive

PATHOPHYSIOLPATHOPHYSIOLOGYOGY

ATPATP2,3 BPG2,3 BPG

TREATMENTREATMENTT

SPLENECTOMY SPLENECTOMY BLOOD BLOOD

TRANSFUSIONTRANSFUSION

CLINICAL FINDING

JAUNDICEJAUNDICESPLENOMEGASPLENOMEGA

LYLY

LAB LAB FINDINGSFINDINGS

POIKILOCYTOSIPOIKILOCYTOSISS

GLUCOSE 6 PHOSPHATE DEHYDROGENASE GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICENCY (G6PD)DEFICENCY (G6PD)

It is an inherited disease characterized by hemolytic It is an inherited disease characterized by hemolytic anemia caused by inability to detoxify oxidizing agentsanemia caused by inability to detoxify oxidizing agents

GLUCOSE 6 PHOSPHATE DEHYDROGENASE GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICENCY (G6PD)DEFICENCY (G6PD)

ETIOLOGY:ETIOLOGY: Neonatal jaundice Neonatal jaundice The jaundice which may be severe typically results form The jaundice which may be severe typically results form increased production of unconjugated bilirubin.increased production of unconjugated bilirubin.SplenomegalySplenomegalyHemglobinuria Hemglobinuria Drug induced haemolysis.Drug induced haemolysis.

CLINICAL FINDINGS:CLINICAL FINDINGS:Weakness or Fatigue Weakness or Fatigue Urine that is dark yellow.Urine that is dark yellow.Yellow skin colorYellow skin color

LABORATORY FINDINGS LABORATORY FINDINGS

Reticulocyte preparation to count reticulocyte & to look Reticulocyte preparation to count reticulocyte & to look Heniz BodiesHeniz Bodies

Complete blood count , Hb , checking Bilirubin level .Complete blood count , Hb , checking Bilirubin level . Bite cells Bite cells PolychromasiaPolychromasia Bister cell (Half-Ghost Cells)Bister cell (Half-Ghost Cells)

TREATMENT

• Blood transfusion (severe anemia).• Stop drug intake which increase the formation of free

radicals.

POLYCHROMASIAPOLYCHROMASIA

MICROANGIOPATHIC MICROANGIOPATHIC HEMOLYTIC ANEMIA (MAHA)HEMOLYTIC ANEMIA (MAHA)

The hemolysis that occur due to destruction of the red blood The hemolysis that occur due to destruction of the red blood cell in the small blood vessels as they pass by the micro cell in the small blood vessels as they pass by the micro thrombi formed by fibrin deposition and platelet aggregation.thrombi formed by fibrin deposition and platelet aggregation.

““HELMET CELLS” HELMET CELLS” or or “SCHISTOCYTES”.“SCHISTOCYTES”. Associated with peripheral thrombocytopenia.Associated with peripheral thrombocytopenia.

CAUSES:CAUSES: Thrombotic thrombocytopenic purpura Thrombotic thrombocytopenic purpura DICDIC Mechanical traumaMechanical trauma

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