Please enable JavaScript.

Coggle requires JavaScript to display documents.

Erythrocytes Pathologies, Overview, Lab Investigations, Others - Coggle…

- - - - Hereditary
        
        G6PD
        
        DDx: Lab
        
        Heinz bodies
        
        heinz bodies
        
        Hereditary Spherocytosis
        
        DDx: Lab
        increase MHCH level
        
        Autosomal Dominant
        
        Ankyrin, spectrin, cytoskeleton malfunction
        
        Thalassemia
        
        DDx: Symptoms
        -Bone deformities
        
        DDx: Lab
        -Target Cells
        -
        
        Beta Thalassemia
        
        Lab Report: HbA2 & HbF increased bc they don't require beta chain to produce
        
        Symptoms
        
        Autosomal Recessive
        
        Sickle Cell Anaemia
        
        DDx: Symptoms
        
        Leg ulcers
      - Non-immune mediated
      - Acquired
        
        Paroxysmal Nocturnal Hemoglobinuria
        
        DDx: Lab
        Positive Sucrose Hemolysis test
        Positive Acidified Serum Test
        
        DDx: Symptoms
        darker urine in morning
        
        Mechanical
        
        Aortic Stenosis
      - Intravascular Vs Extravascular
        
        DDx: Lab
        In Intravascular Hemolysis -Haptoglobin Levels Decrease
        In Extravascular Hemolysis-
        Hepatospleenomegaly
        
        in intravascular hemolysis, haptoglobin binds with the released hemoglobin to be excreted together
    - - Autoimmune Hemolytic Anaemia
        
        Cold autoimmune hemolytic anaemia
        
        Pathophysiology
        
        IgM mediated via complement system: MAC pore induce autolysis of RBC
        
        Complication
        
        Chronic: Liver
        
        Acute: blue/purple Digit extremities due to raynaud's phenomenon (emboli in digit)
        
        Rare
        
        Occur in temp <30
        
        Warm autoimmune hemolytic anaemia
        
        Pathophysiology
        
        IgG mediated via antibody dependent cell-mediated cytotoxicity
        
        macrophage,neutrophil,NK cell, T-cell
        
        More common than cold
        
        occur in temp >37 deg celcius
        
        Complication
        
        Spleenomegaly
        
        extravascularly macrophage common break down RBC in spleen
      - Immune Mediated
  - - - DDx: Symptoms
        Bone Marrow Aspirates "Dry tap". histology shows mostly white bone marrow
    - - Chronic Myeloid Leukaemia
      - Polycythaemia Vera
        
        DDx: Symptoms
        
        itchy skin
        (especially after hot shower)
        
        due to increase basophils and mast cells which increase histamine -> increase itchiness
        
        Pathophysiology
        
        EPO independent erythrocyte proliferation
        
        Bone marrow in PCV
        
        no fat cells present, some megakaryocytes, hypercellular bone marrow
        
        Cause
        
        JAK-2 gene Mutation
        
        JAK-2 is a non-receptor tyrosine kinase
        
        DDx: Lab Diagnosis
        increased Uric Acid
        
        due to high cell turnover
      - Essential Thrombocythaemia
        
        Bone marrow in ET
        
        DDx: Lab Diagnosis
        
        Abnormally Large Platelets
        
        Causes
        
        JAK-2 gene mutation
        
        calreticulan
      - Myelofibrosis
        
        Symptoms
        
        Weight loss
        
        bc increase metabolism due to increase no. of cells
        
        DDx: Lab Diagnosis
        
        tear drop cells
        
        Causes
        
        JAK-2 gene mutation
      - DDx: Diagnosis
        JAK-2 gene mutation
        except CML (9:22)t
    - - Iron Deficiency Anaemia (IDA)
        
        DDx: Symptoms
        
        spoon nails koilonychia
        
        hair loss
      - B12 Deficiency
        
        DDx: Symptoms
        
        glossitis
        
        peripheral neuropathy may present as "difficulty walking" or "numbness in hands and feet"
        
        Pernicious Anaemia
        
        Timeline
        B12 takes longer (3-5yrs) than B9 to deplete
        
        so if patient comes in only 5 months but have megaloblastic anaemia due to deficiency it is prolly B9
        
        Physiology
        
        B-12 gets absorbed in illeum
        
        helps in development of peripheral nerves
        
        DDx: Lab Diagnosis
        hypersegmented neutrophils
      - B9 Folate Deficiency
        
        Causes:
        Associated with alcohol consumption
    - - Fanconi anemia is an autosomal recessive condition arising from defects in homologous DNA repair. Fanconi anemia presents with pancytopenia, developmental delays/failure to thrive, cafe-au-lait spots, and bony abnormalities. The condition can be diagnosed using a chromosome breakage test.
  - - - Coagulation Disorders
        
        Hemophilia
        
        "Love bleeding"
        
        9 lives cat disorders
        
        Hemophilia A
        
        factor 8 deficiency
        
        "A for Ate (eight)"
        
        factor 8 is bounded with vWF in order to prolong half life of 8
        
        x-linked recessive
        
        Hemophilia B
        
        factor 9 deficiency
        
        "B for be mine (nine)"
        
        Be mine for christmas
        
        deficiency in clotting factors
        
        Coagulation Cascade
        
        Von Willebrand's Disease
        
        DDx: Lab
        Ristocetin Cofactor Assays -> impaired
        
        ristocetin activates vWF and measures its ability for it to clot blood
        
        Vitamin K Deficiency
        
        Common in infants w underdeveloped liver
        
        clotting factors produced in liver via gamma carboxylation
        
        Protein C
      - Platelet Disorders
        
        decrease no. or dysfunctional
        
        Thrombocytopenia
        
        Secondary
        
        Thrombasthenia Purpura
        
        underlying cause
        
        Disseminated Intravascular Coagulation
        
        Primary
        
        Immune Thrombocytopenic Purpura (ITP)
        
        DDx: Lab
        presence of GPIIIA/IIB receptor antibodies
        
        idiopathic
        
        DDx: Symptoms
        
        Petechiae
        
        Epistaxis
        
        Purpura
        
        Mucous membrane bleeding
      - Vascular Disorders
        
        increase capillary fragility
        
        Non-thrombocytopenia purpura
        
        Scurvy (vit c deficiency)
        
        DDx: lab
        platelet count normal but present w easy bruising
      - DDx: Symptoms
        purple bruises (purpura)