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MindMap Gallery Hematology disease states
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Hematology disease states
In this mind map, we will delve into the various disease states within the field of hematology. Hematology encompasses the study of blood and blood-forming tissues, including the diagnosis and treatment of blood disorders. By visually mapping out these disease states, we can gain a comprehensive understanding of the complexities and nuances within the field of hematology, aiding in education, research, and patient care.
Edited at 2023-06-25 02:16:27
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HEMATOLOGY DISEASE STATES
HEMATOLOGY CELLULAR DISEASES
ERYTHROCYTES
ANEMIA
MICROCYTIC
ASCP NORMAL MCV → 76 - 100 fL MCV MICROCYTIC → <76 fL
IRON DEFICIENCY
Pathophysiology: Primary conditions → blood loss or inadequate iron intake Secondary conditions → disease process or conditions that deplete iron stores (GI bleeding or pregnancy) Unique Symptoms: Pica: abnormal craving for unusual substances (dirt, ice or clay) Cheilitis: inflammation around the lips Koilonychias: spooning of nail beds Morphology: MICROCYTIC, HYPOCHROMIC Key Laboratory Test: ↓ SERUM IRON, FERRITIN & TRANSFERRIN SATURATION ↑ TIBC
THALASSEMIA
α-THALASSEMIA
Pathophysiology: RESULT FROM GENE DELETION Unique Symptoms: Morphology: Key Laboratory Test:
β-THALASSEMIA
SIDEROBLASTIC
Pathophysiology: Excessive accumulation of iron in the mitochondria lead to iron deposits in the red cell precursors in the marrow called ringed sideroblasts Morphology: MICROCYTIC WITH DIMORPHISM POLYCHROMATOPHILIA PAPPENHEIMER BODIES RING SIDEROBLASTS Key Laboratory Test: ↑ RDW ↑ SERUM IRON, FERRITIN, AND TRANSFERRIN SATURATION NORMAL TIBC AND TRANSFERRIN 
HEREDITARY HEMOCHROMATOSIS
Pathophysiology: Inheritance of abnormal gene, HFE, the gene that regulates the amount of iron absorbed from the dies (Mutation: C282Y and H63D)
CHRONIC INFLAMMATION
Pathophysiology: Chronic disorders that may cause microcytic anemia: collagen vascular disease, thryoid disorders, malignancies Key Laboratory Test: ↓ SERUM IRON, TIBC NORMAL/↑ SERRUM FERRATIN
NORMOCYTIC
ASCP NORMAL MCV → 76 - 100 fL
HEREDITARY HEMOLYTIC
HEREDITARY SPHEROCYTOSIS
Morphology: SPHEROCYTES POLYCHROMATOPHILIA Key Laboratory Test: ↑ RETIC, MCHC
HEREDITARY ELLIPTOCYTOSIS
Morphology: ELLIPTOCYTES SCHISTOCYTES (IN SEVERE CASES)
HEREDITARY STOMATOCYTOSIS
Pathophysiology: Rare hemolytic disorder in which red cells have an intrinsic defect related to sodium and potassium permeability Morphology: 10-30% STOMATOCYTES Key Laboratory Test: ↓ MCHC
HEREDITARY XEROCYTOSIS
Pathophysiology: Rare autosomal dominant disorder in which red cells have an increased surface to volume ration, leading to moderate to severe anemia, and a decreased osmotic fragility. Morphology: Xerocytes → dehydrated RBCs with irreversible potassium loss; hgb of red cells puddled at one end of the red cell  Key Laboratory Test: ↑ MCHC
ENZYME DEFICIENCY
GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY
Pathophysiology: G6PD protects the red cell by preventing cellular damage from oxidative substances. Without G6PD, the red cell is more vulnverable to these damages (hemolysis) Associated Clinical Conditions: Drug-Induced Acute Hemolytic Anemia → intravascular lysis, rapidly decreased HCT with in 24-48 hrs Favism → AHA triggered by ingestion fava bean; reacts a few hours after ingestions Neonatal Jaundice → occurs within 2-3 days after birth Congenital Non-Spherocytic Anemia → chronic hemolysys that is mainly extravascular Morpholgy: NORMOCYTIC, NORMOCHROMIC WITH POLYCHROMASIA Key Laboratory Test: ↑ RETIC, BILIRUBIN ↓ HAPTOGLOBIN
PYRUVATE KINASE DEFICIENCY
Pathophysiology: Red cells that lack PK are unable to generate ATP from ADP for red cell membrane function Morpholgy: NORMOCYTIC, NORMOCHROMIC WITH POLYCHROMASIA FEW nRBCs
APLASTIC ANEMIA
Pathophysiology: Cellular depletion, the reduced production of all blood cells, bone marrow failure 80-85% are acquired, 15-20% are inherited/congenital Key Laboratory Test: PANCYTOPENIA RETICULOCYTOPENIA ↓ HSC
ACQUIRED
Two Major Caterogies: IDIOPATHIC → NO KNOWN CAUSE (70% OF CASES) SECONDARY → ASSOCIATED WITH AN IDENTIFIED CASE (10-15% OF CASES) drugs, radiation, pregnancy, viruses, autoimmune disease
INHERITED/CONGENITAL
FANCONI ANEMIA
Pathophysiology: Rare autosomal recessive disorder that affects physical and bone marrow developments Characteristic Features: Aplastic anemia Physical abnormalities (thumb malformation, skin pigmentation, developmental delays) ↑ cancer risk ↑ Hgb F
DYSKERATOSIS CONGENITA
Pathophysiology: Bone marrow failure Characteristic Features: Aplastic anemia Mucocutaneous abnormalities (skin pigmentation, dystrophic nails and oral leukoplakia)
SHWACHMAN-BODIAN DIAMOND SYNDROME
Pathophysiology: Multisystem disorder characterized by pancreatic insufficiency, cytopenia, skeletal abnormalities, and predisposition for hematologica malignancies Key Laboratory Test: ↓ Pancreatic enzyme secretion
SICKLE CELL ANEMIA
Pathophysiology: Two Forms: Reversible sickle cells → change shape in response to oxygen tension (oxygenated = normal, deoxygenated = sickle) Irreversible sickle cells → do not change shape at all, always sickle Morpholgy: SICKLE CELLS (ELONGATED, POINTY ENDS) Characteristic Features: Reticuloytosis (hypercellular bone marrow) RBCs only lives 10-20 days ↑ Bilirubin
MACROCYTIC
ASCP NORMAL MCV → 76 - 100 fL MCV MACROCYTIC → >100 fL
MEGALOBLASTIC
Key Morpholgy: HYPERSEGMENTED NEUTROPHILS (>5 LOBES) MACROCYTES Possible Morphology: Basophilic stippling Howell-Jolly bodies Severe anemia: schistocytes, target, and teardrop cells Key Laboratory Test: PANCYTOPENIA ↓ RETIC (<1%) ↑ RDW
VITAMIN B13 & FOLIC ACID DEFICIENCY
PERNICIOUS ANEMIA
Pathophysiology: An autoimmune disorder characterized by impaired absorption of vitamin B12 due to a lack of intrinsic factor Background: Intrinsic factor: produced by parietal cells in the stomach that is necessary for vitamin B12 absorption Hereditary intrinsic factor deficiency Helicobacter pylori infection of GI tract → H. pylori destroys parietal cells
NON-MEGALOBLASTIC
Pathophysiology: Macrocytic anemia as a result of secondary conditions, not DNA synthesis impairment Morpholgy: MILD MACROCYTOSIS LACKS HYPERSEGMENTED NEUTROPHILS LACK MEGALOBLASTS IN BONE MARROW Causes: Chronic alcoholism Liver disease Reticulocytosis Bone marrow failure
LEUKOCYTES
MYELOID NEOPLASIA
ACUTE MYELOID LEUKEMIA (AML)
Pathophysiology: Gene mutations leads to clonal expansion of undifferentiated myeloid precursors in the peripheral blood and bone marrow resulting in ineffective erythropoiesis and bone marrow failure Most common type of leukemia in adults Morphology: PREDOMINATELY BLAST CELLS AUER RODS (only seen in myeloid leukemia)  
MYELODYSPLASTIC SYNDROMES
Pathophysiology: A group of acquired clonal disorder of hematopoietic stem cells characterized by abnormal and ineffective hematopoiesis in the bone marrow (bone marrow failure disorder) Rarely affect individuals younger than 50 unless preceded by chemotherapy or radiation used Morphology: OVAL MACROCYTES HYPOCHROMIC MICROCYTES IMMATURE CELLS
MYELOPROLIFERATIVE NEOPLASMS
CHRONIC MYELOGENOUS LEUKEMIA (CML)
Pathophysiology: Hematopoietic proliferative disorder associated with a specific gene defect, Philadelphia Chromosome (BRC-ABL) Most common form of chronic leukemia in adults Morphology: LEUKOCYTOSIS PREDOMINATELY SEG NEUTROPHILS, BANDS, METAMYELOCYTES AND MYELOCYTES 
POLYCYTHEMIA VERA
Pathophysiology: Most common type of myeloproliferative neoplasm characterized overproduction of erythrocytes (primary), granulocytes and platelets Due to mutated JAK2 gene
MYELOFIBROSIS WITH MYELOID METAPLASIA
Pathophysiology: The least common, but most aggressive form of MPN Characterized by splenomegaly and ineffective hematopoiesis associated with bone marrow hypercellularity, extramedullary hematopoiesis, fibrosis and increased megakaryocytes Morphology: NORMOBLAST (immature RBC) IMMATURE GRANULOCYTES TEARDROP CELLS
ESSENTIAL THROMBOCYTHEMIA
Pathophysiology: Proliferation of megakaryocytes in the bone marrow Morphology: LEUKOCYTOSIS WITH OCCASIONAL IMMATURE CELLS (MYELOCYTES & METAMYELOCYTES) ERYTHROCYTOSIS PLATELET ANISOCYTOSIS → GIANTISM, AGRANULARITY
LYMPHOID NEOPLASIA
ACUTE LYMPHOBLASTIC LEUKEMIA (ALL)
Pathophysiology: Result of mutation of lymphoid precursor cells Primarily a disease of childhood (peak 2-5 years, 75% childhood leukemia) and adolescence Morphology: PREDOMINATELY BLAST CELLS NO AUER RODS 
CHRONIC LYMPHOBLASTIC LEUKEMIA (CLL)
Pathophysiology: Proliferation of B lymphocytes Morphology: >85% of lymphocytes appearing small and mature with scanty cytoplasm and a dense nucleus with a condensed chromatin pattern without a defined nucleolus (Cobblestone pattern) Prolymphocytes or atypical lymphoid cells Smudge cells 
HAIRY CELL LEUKEMIA
Pathophysiology: Rare B-cell malignancy Morphology: HAIRY CELLS → HAIR-LIKE OR RAGGED PROJECTIONS CYTOPLASM 
CUTANEOUS T-CELL LYMPHOMAS
Pathophysiology: NON-HODGKIN'S LYMPHOMA → absence of Reed-Sternberg cell Morphology: Lymphocytes: SCANTY CYTOPLASM& CEREBRIFORM, FOLDED NUCLEUS, varaibly condensed chromatin and inconspicous nucleoli 
MYCOSIS FUNGOIDES
Pathophysiology: Cancerous T cells cannot be found in the blood, only in skin lesions; but can be spread to other orans Abnormal T cells travel from the blood to the skin tissue, accumulating in the skin and forming patches, plaues and tumor nodules
SEZARY SYNDROME
Pathophysiology: Cancerous T cells found in the blood and lymph nodes Agressive form of CTCL Widespread red rash and abnormally enlarged lymph nodes
BURKITT LYMPHOMA
Pathophysiology: Aggressive cancer of mature B cells associated with severe and abrupt clinical presentation Morphology: BURKITT CELLS → FINELY CLUMPED CHROMATIN, DEEPLY BASOPHILIC CYTOPLASM WITH DISTINCT VACUOLES (STARRY SKY) 
MANTLE CELL LYMPHOMA
Pathophysiology: Aggressive rare form of B cell Non-Hodgkin's Lymphoma Morphology: MANTLE CELLS → SCANTY, BASOPHILIC CYTOPLASM WITH A CLEFT, IRREGULAR NUCLEI (BUTT CHECKS) 
PLASMA CELL DYSCRASIAS
MULTIPLE MYELOMA
Pathophysiology: Accumulation of plasma cells in the bone marrow and other locations Production of an abnormal monoclonal protein, M PROTEIN/BENCE-JONES, as a result of excess kappa and lambda light chains M protein is a defective antibody that does not have any functions; cannot fight bacteria/virues and may cause kidney damage and bone destruction Morphology: PLASMA CELL IN BONE MARROW ROULEAUX 
WALDENSTROM'S MACROGLOBULINEMIA
Pathophysiology: Accumulation of plasma cell Production of abnormal monoclonal protein, M PROTEIN/BENCE-JONES, as a result of excess heavy chains Morphology: PLASMACYTOID LYMPHS ROULEAUX 
HEREDITARY ANOMALIES
MAY-HEGGLIN ANOMALY
Rare inherited blood platelet disorder associated with thrombocytopenia and giant platelets; Dohle's bodies may be seen 
ALDER'S ANOMALY
Rare inherited disorder characterized by presence of coarse dark granules in leukocytes. May be confused with toxic granulation. 
PELGER'S HUET ANOMALY
Autosomal dominant disorder characterized by decreased nuclear segmentation, primarily neutrophils (hyposegmentation, 2 lobes) 
CHEDIAK-HIGASHI SYNDROME
Rare autosomal recessive disorder of neutrophilic granules. Neutrophils show giant grey-green cytoplasmic granules Lymphocytes and monocytes show a single red granule in the cytoplasm 
THROMBOCYTES
QUANTITATIVE ABNORMALITIES
THROMBOCYTOPENIA
IDIOPATHIC THROMBOCYTOPENIA PURPURA (ITP)
Pathophysiology: 66% of cases is due to autoantibody directed against specific sites on glycoprotein IIb-IIIa or GP Ib-IX Chronic ITP → between 20-50 years old and caused by autoantibody Acute ITP → children between 2-6 years old who have just recovered from viral infection Characteristic Features: ↓ PLT due to immune destruction
THROMBOTIC THROMBOCYTOPENIA PURPURA (TTP)
Pathophysiology: Acute and unpredictable blood clots formation in small blood vessels thru out the body ↑ large vWF due to deficiency of ADAMT-13, the protein responsible for cleaving large vWF into smaller proteins Large vWF have increased binding sites for platelets; thus, if there are not cleaved and allowed to circulate, then excessive platelets clots may be formed Trigger: autoimmune disease (SLE), bacterial infections, drug-induced, postpartum or near delivery Characteristic Features: ↓ PLT and RBC
HEMOLYTIC UREMIC SYNDROME (HUS)
Pathophysiology Occurs in children between 6m - 4 years old Kidney is damaged by the toxin E. coli O157:H7 or the Shigella toxin Morphology: Microangiopathic anemia with schistocytes present
PSEUDOTHROMBOCYTOPENIA
Related to sample integrity/preanalytical variables Incorrect collection method → formation of small clots Platelet satellitism → patient's platelets surround neutrophils and monocytes; occurs if its collected in EDTA
QUALITATIVE DEFECTS
VON WILLEBRAND DISEASE
Pathophysiology: Autosomal dominant disorder that result in blood not clotting properly due to deficiency or abnormal vWF vWF provides a receptor molecule for GP Ib of platelets (platelet adhension) and stablize Factor 8 from premature degradation Characteristic Features: PTT NORMAL/↑
BERNARD-SOULIER SYNDROME
Pathophysiology: Autosomal recessive disorder leads to rare adhesion defect of platelets that involves the GP Ib-IX complex GP Ib-IX complex is the receptor for vWF; thus if the complex cannot bind to vWF, it would impair platelet adhesion ability at injury site Characteristic Features: THROMBOCYTOPENIA WITH GIANT PLATELETS PT & PTT NORMAL; ↑BT
GLANZMANN THROMBASTHENIA
Pathophysiology: Autosomal recessive disorder resulting in deficiency or abnormality of GP IIb & IIIa GP IIb/IIIa are intermediary for fibrinogen binding to platelets Aggregation cannot occur if GP IIa/IIIa is absent of it there is an absence of fibrinogen or calcium (calcium dependent) Characteristic Features: NORMAL PLT ↑BT ABNORMAL PLT AGGREGATION EXCEPT RISTOCETIN
HEMOSTASIS DISEASES
COAGULATION FACTOR DEFICIENCIES
HEMOPHILIA A
Pathophysiology: Due to FACTOR 8 (VII) DEFICIENCY Characteristic Features: NORMAL VWF = NORMAL BT ↑APTT (reduced level of F8) NORMAL PT
HEMOPHILIA B
Pathophysiology: Due to FACTOR 9 (IX) DEFICIENCY Characteristic Features: NORMAL VWF = NORMAL BT ↑APTT (reduced level of F9) NORMAL PT
THROMBOPHILIA (FACTOR V LEIDEN)
Pathophysiology: Due to inheritance of mutated Factor V gene, FACTOR V LEIDEN Linked to an increased risk of blood clots → the mutation causes it "harder to turn offf" (Factor V Leiden) than normal Factor V; thus, blood clots are more likley to form
FIBRINOLYTIC SYSTEM
AFIBRINOGENEMIA
Pathophysiology: Autosomal recessive disorder that shows less than 10 mg/dL fibrinogen in the plasma Thrombin Time → measures how long it takes to form a fibrin clot (aka how long it takes to convert fibrinogen to fibrin) Reptilase Time → measures the rate of fibrin clot formation after the addition of reptilase, which help aid the diagnosis of fibrinogen deficiency Normal values for RT when TT is prolonged suggests the presence of heparin or a direct thrombin inhibitor Laboratory Test: ↑PT, APTT, TT, RT, BT
HYPOFIBRINOGENEMIA
Autosomal recessive disorder that shows between 20 - 100 mg/dL fibrinogen in the plasma
DYSFIBRINOGENEMIA
Pathophysiology: Autosomal dominant qualitative disorder of fibrinogen in which an amino acid substitution produces an abnormal fibrinogen Laboratory Test: ↑PT, APTT, TT, RT NORMAL FIBRINOGEN LEVEL (not deficiency, its abnormal/not functioning properly)
HYPERCOAGULATION STATES (THROMBOPHILIA)
FACTOR V LEIDEN
Pathophysiology: Due to inheritance of mutated Factor V gene, FACTOR V LEIDEN Linked to an increased risk of blood clots → the mutation causes it "harder to turn offf" (Factor V Leiden) than normal Factor V; thus, blood clots are more likley to form
PROTHROMBIN GENE MUTATION
Characterized by overproduction of Factor II, which increase the risk of developing blood clots
PROTEIN C & S DEFICIENCY
Pathophysiology: Protein C and S are responsible for inhibiting coagulation by degrading F8a and F5a → prevent blood over clotting Deficiency cause coagulation cascade to continue unchecked with overactivity of F5 and F8, resulting in excessive thrombin production; thus, increase risk of blood clots
ANTITHROMBIN III DEFICIENCY
Primary inhibitor of thrombin, Factor X, IX and VII → increase risk of blood clots
DISSEMINATED INTRAVASCULAR COAGULATIONA
Pathophysiology: Generalized and uncontrolled hemostasis activation that cause abnormal formation of blood clots (microthrombi) thru out the body's blood vessel Due to abnormal clots use up the clotting factors, it can lead to massive bleeding in other locations Type: Acute & Uncompensated → deficiencies of multiple hemostasis components Associated with obstetric emergencies, intravascular hemolysis, septicemia, viremia, burns, trauma, cardiac disorders Chronic → slightly reduced, normal or even elevated clotting factors levels Liver coagulation factor production and bone marrow platelet production incompletely compensate for consumption Associated with tissue necrosis, liver disease, renal disease, chronic inflammation Morphology: MICROANGIOPATHIC HEMOLYTIC ANEMIA WITH SCHISTOCYTES Labortory Test: ↑D-DIMER & FIBRIN DEGRADATION PRODUCTS ↑PT, APTT, TT ↓PLT, FIBRINOGEN