| A | B |
|---|
| Hb S | β chain: Glu6Val AR |
| Deoxygenated Hb polymerizes → sickle cells → vascular occlusion and hemolysis | Hb S |
| Hb C | β chain: Glu6Lys AR |
| Oxygenated Hb tends to crystallize → less deformable cells → mild hemolysis. | Hb C |
| Hb Hammersmith | β chain: Phe42Ser AD |
| An unstable Hb → Hb precipitation → hemolysis; also low oxygen affinity | Hb Hammersmith |
| Hb Hyde Park (a Hb M) | β chain: His92Tyr AD |
| The substitution makes oxidized heme iron resistant to methemoglobin reductase →Hb M, which cannot carry oxygen → cyanosis (asymptomatic) | Hb Hyde Park (a Hb M) |
| Hb Kempsey | β chain: Asp99Asn AD |
| The substitution keeps the Hb in its high oxygen affinity structure → less oxygen to tissues →polycythemia | Hb Kempsey |
| β chain: Glu26Lys | Hb E |
| The mutation → an abnormal Hb and decreased synthesis (abnormal RNA splicing) →mild thalassemia | β chain: Glu26Lys |
| 80% Burkitt lymphoma | t(2;8)(q11;q24) |
| 15% Burkitt lymphoma | t(8;22)(q24;q11) |
| 5% Burkitt lymphoma | t(8;14)(q24;q32) |
| Burkitt lymphoma | MYC |
| 90%-95% Chronic myelogenous leukemia | t(9;22)(q34;q11) |
| Chronic myelogenous leukemia | BCR-ABL |
| 10%-15% Acute lymphocytic leukemia | t(1;19)(q23;p13) |
| BCR-ABL | Acute lymphocytic leukemia |
| 3%-6% Acute lymphoblastic leukemia | t(1;19)(q23;p13) |
| Acute lymphoblastic leukemia | TCF3-PBX1 |
| ∼95% Acute promyelocytic leukemia | t(15;17)(q22;q11) |
| 10%-30% Chronic lymphocytic leukemia | t(11;14)(q13;q32) |
| Chronic lymphocytic leukemia | BCL1 |
| ∼100% Follicular lymphoma | t(14;18)(q32;q21) |
| Follicular lymphoma | BCL2 |
| cytoplasmic tyrosine kinase | ABL; CML |
| transcription factors | myc; Burkitt's |
| anti-apoptotic proteins | BCL2; chronic lymphocytic leukemia |
| Thalassemias Transcription | reduced or absent production of a globin mRNA because of deletions or mutations in regulatory or splice sites of a globin gene |
| Hereditary persistence of fetal hemoglobin | results from increased postnatal transcription of one or more γ-globin genes |
| nonfunctional or rapidly degraded mRNAs with nonsense or frameshift mutations | Thalassemias Translation |
| More than 70 hemoglobinopathies | bnormal hemoglobins with amino acid substitutions or deletions that lead to unstable globins that are prematurely degraded |
| α-Thalassemia trait (mild anemia, microcytosis) | α-/α- or αα/- - |
| Hb H (β4) disease (moderately severe hemolytic anemia) | α-/- - |
| Hydrops fetalis or homozygous α-thalassemia (Hb Bart's: γ4) | - -/- - |
| neonatal jaundice, non-spherocytic hemolytic anemia | fava beans |
| vitamin K epoxide reductase complex I | encoded by the VKORC1 gene |
| GYPC^ex3 | Gerbic-neg blood group |
| SAo | RBC membrane band 3 |
| endothelial receptor CD36- decoy to reduce neurovascular binding | P. falcuparum infected SAO RBCs |
| low CR1 expresssion | confers protection from malaria |
| Sl2 allele; Swain-Langley Knops blood group | protection from cerebral malaria |
| A-allele, MEd allele of G6PD | malarial selection; early phagocytosis of iRBCs (ring stage) |
