34 terms in hematology & oncology
Loss of two of the four α-globin genes (either both on one chromosome cis or one on each trans). Causes a mild hypochromic, microcytic anemi…
Autosomal recessive quantitative or qualitative defect of the platelet GPIb-IX-V receptor that binds vWF. Impaired platelet-to-vWF adhesion …
The most severe form of β-thalassemia (homozygous β⁰ or β⁺ mutations) causing near-complete absence of β-globin chains. Presents with profou…
Heterozygous β-globin gene mutation causing reduced β-chain production. Results in a mild, asymptomatic microcytic anemia often discovered i…
Highly aggressive B‑cell NHL driven by MYC translocation; classic 'starry‑sky' histology.
Rare paraneoplastic syndrome caused by metastatic serotonin-secreting neuroendocrine tumors (carcinoids), typically of midgut origin with li…
Indolent B-cell leukemia of older adults, characterized by chronic lymphocytosis and immune dysfunction. Small lymphocytic lymphoma (SLL) is…
Myeloproliferative neoplasm with unchecked myeloid (granulocyte) proliferation; driven by BCR-ABL fusion (Philadelphia chromosome t(9;22)) l…
Systemic activation of coagulation (often via tissue factor or widespread endothelial injury) produces fibrin‑rich microthrombi with consump…
Inherited point mutation in the Factor V gene (most commonly Arg506→Gln) that makes factor V resistant to inactivation by activated protein …
Indolent B‑cell NHL with t(14;18) causing BCL2 overexpression and inhibited apoptosis.
Rare autosomal recessive platelet function disorder where platelets cannot aggregate due to an absence or defect of the GpIIb/IIIa receptor …
An inherited X-linked recessive enzyme disorder of red blood cells causing impaired NADPH production and inability to replenish glutathione,…
Alloimmune complication of allogeneic transplantation where donor T cells attack the host's tissues, causing multi-organ inflammation (commo…
Three α-globin gene deletions (–/–/–/α): a severe form of α-thalassemia causing chronic hemolytic anemia. Excess unpaired β chains form Hemo…
Thrombotic microangiopathy with the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. Classically follo…
Life-threatening hyperinflammatory syndrome of uncontrolled macrophage & T-cell activation (cytokine storm) causing severe tissue damage and…
B‑cell lymphoma characterized by Reed–Sternberg (CD15+, CD30+) cells and contiguous nodal spread.
Complete absence of α-globin production (four-gene deletion, –/– –/–), resulting in a fetus that cannot form functional fetal or adult hemog…
Malignant proliferation of hematopoietic cells with primary involvement of bone marrow and blood.
Abnormally high white blood cell count (typically >11,000/µL in adults).
Malignant neoplasms of lymphoid tissue (nodes or extranodal) subdivided into Hodgkin and non‑Hodgkin categories.
Anemia with macrocytosis (MCV > 100 fL). Subclassified into megaloblastic (impaired DNA synthesis, e.g. vitamin B12 or folate deficiency) an…
B‑cell NHL with t(11;14) → cyclin D1 (CCND1) overexpression; typically older men; often disseminated at dx.
Clonal mast cell proliferation (often driven by a KIT D816V mutation) causing mast cell accumulation in tissues; may be confined to skin (cu…
Malignancy of the nasopharynx epithelium (usually an undifferentiated squamous cell carcinoma) strongly linked to Epstein–Barr virus (EBV) i…
Heterogeneous group of mostly B‑cell lymphomas (also T/NK) with non‑contiguous spread and frequent extranodal disease.
Group of extranodal B-cell non-Hodgkin lymphomas originating in and confined to the skin (no systemic involvement at diagnosis). Includes in…
An autosomal recessive hemoglobinopathy caused by a point mutation (Glu→Val) in the β-globin gene, leading to abnormal hemoglobin S (HbS) th…
Malignancy arising from squamous epithelium (e.g. skin, mucosa) characterized by keratinizing malignant cells (keratin pearls and intercellu…
Group of inherited microcytic, hemolytic anemias caused by decreased production of α- or β-globin chains, leading to imbalanced hemoglobin s…
Life-threatening thrombotic microangiopathy caused by severe ADAMTS13 deficiency (usually autoimmune), leading to ultra-large vWF multimers …
Qualitative platelet defect in advanced kidney failure due to circulating uremic toxins and altered nitric oxide or prostacyclin balance. Ca…
Common inherited bleeding disorder due to quantitative or qualitative defects of von Willebrand factor leading to impaired platelet adhesion…