| Chronic Myeloid Leukemia (CML) | BCR-ABL fusion | t(9;22), Philadelphia chromosome | Oncogene activation | Myeloid |
| Acute Promyelocytic Leukemia (APL) | PML-RARA fusion | t(15;17) | Oncogene activation | Myeloid |
| Burkitt Lymphoma | MYC translocation | t(8;14) | Oncogene activation | Lymphoid |
| Mantle Cell Lymphoma | Cyclin D1 (CCND1) translocation | t(11;14) | Oncogene activation | Lymphoid |
| Follicular Lymphoma | BCL2 translocation | t(14;18) | Apoptosis inhibition | Lymphoid |
| Diffuse Large B-Cell Lymphoma | BCL6 mutations | various | Oncogene activation | Lymphoid |
| Hairy Cell Leukemia | BRAF V600E mutation | point mutation | MAPK pathway activation | Other |
| Acute Lymphoblastic Leukemia (ALL) | TEL-AML1, BCR-ABL | various | Fusion oncogenes | Lymphoid |
| T-ALL | NOTCH1 gain-of-function | point mutation | T-cell proliferation | Lymphoid |
| Chronic Lymphocytic Leukemia (CLL) | Deletion 13q14 | del(13q) | Tumor suppressor loss | Lymphoid |
| Multiple Myeloma | Deletion 17p (TP53) | del(17p) | Tumor suppressor loss | Other |
| Myelodysplastic Syndromes (MDS) | Deletion 5q | del(5q) | Tumor suppressor loss | Myeloid |
| Polycythemia Vera | JAK2 V617F | point mutation | Tyrosine kinase activation | Myeloid |
| Essential Thrombocythemia | JAK2, CALR, MPL | point mutations | Signal transduction | Myeloid |
| Primary Myelofibrosis | JAK2, CALR, MPL | point mutations | Signal transduction | Myeloid |
| Hemochromatosis | HFE mutation | Chromosome 6p21.3 | Iron overload disorder (non-oncogenic) | Other |
| Sickle Cell Disease | HBB gene mutation (Glu6Val) | Chromosome 11p15.5 | Structural hemoglobinopathy | Other |
| Thalassemia (alpha) | HBA1, HBA2 deletions | Chromosome 16 | Reduced alpha-globin synthesis | Other |
| Thalassemia (beta) | HBB point mutations | Chromosome 11 | Reduced beta-globin synthesis | Other |
| G6PD Deficiency | G6PD mutation | Xq28 | Enzymopathy – hemolytic anemia | Other |
| Hereditary Spherocytosis | ANK1, SPTB, SPTA1, EPB42 | Various | Membrane defect (non-oncogenic) | Other |
| Fanconi Anemia | FANC genes | Various | DNA repair defect – pancytopenia, ↑ cancer risk | Other |
| Aplastic Anemia (Fanconi-Independent) |
TERT, TERC, DKC1 |
Various |
Telomere maintenance failure → marrow failure |
Other |
| Waldenström Macroglobulinemia |
MYD88 L265P mutation |
Point mutation |
NF-κB activation, excess IgM production |
Lymphoid |
| Hemophilia A |
F8 gene mutation |
Xq28 |
Factor VIII deficiency |
Other |
| Hemophilia B |
F9 gene mutation |
Xq27.1–q27.2 |
Factor IX deficiency |
Other |
| Hemophilia C |
F11 gene mutation |
Chromosome 4q35 |
Factor XI deficiency |
Other |
| von Willebrand Disease |
VWF gene mutation |
12p13.31 |
Defective platelet adhesion, low factor VIII |
Other |
| Bernard-Soulier Syndrome |
GPIb gene mutation |
17p12 |
Platelet adhesion defect |
Other |
| Glanzmann Thrombasthenia |
ITGA2B, ITGB3 mutation |
17q21.32, 17q21.32 |
Platelet aggregation defect (GPIIb/IIIa) |
Other |
| Factor V Leiden |
F5 gene (Arg506Gln) |
1q24.2 |
Resistance to activated protein C → thrombosis |
Other |
| Prothrombin G20210A Mutation |
F2 gene |
11p11.2 |
Increased prothrombin → thrombosis |
Other |
| Antithrombin III Deficiency |
SERPINC1 gene |
1q25.1 |
Increased thrombin activity → thrombosis |
Other |
| Protein C Deficiency |
PROC gene mutation |
2q13–q14 |
↓ inactivation of Va and VIIIa → thrombosis |
Other |
| Protein S Deficiency |
PROS1 gene mutation |
3p11.1 |
↓ cofactor for Protein C → thrombosis |
Other |
Home