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1
Q

What are the sites of fetal erythropoiesis?

A

Yolk sac (week 3-8), Liver (week 6-birth), Spleen (week 10-28), Bone marrow (week 18 onwards).

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2
Q

What is the function of erythropoietin (EPO)?

A

EPO stimulates erythropoiesis by promoting differentiation of progenitor cells.

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3
Q

How is iron absorbed in the body?

A

Iron is absorbed in the duodenum and proximal jejunum, mainly as Fe2+, via DMT-1 transporter.

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4
Q

What is the mechanism of anemia of chronic disease?

A

Increased IL-6 leads to increased hepcidin, reducing ferroportin activity and iron availability.

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5
Q

What are the defining features of microcytic anemia?

A

MCV <80 fL, often due to iron deficiency, lead poisoning, thalassemia, or anemia of chronic disease.

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6
Q

What is the genetic mutation in sickle cell disease?

A

A point mutation in the β-globin gene results in Glu → Val substitution.

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7
Q

What is the Philadelphia chromosome?

A

t(9:22) translocation between BCR and ABL1 genes, seen in CML.

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8
Q

What is the treatment for immune thrombocytopenic purpura (ITP)?

A

First-line: Corticosteroids. Second-line: IVIG, rituximab, thrombopoietin receptor agonists.

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9
Q

What are the key markers of multiple myeloma?

A

CRAB criteria: HyperCalcemia, Renal failure, Anemia, Bone lesions. M spike on SPEP.

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10
Q

What is the role of JAK2 in polycythemia vera?

A

JAK2 V617F mutation increases tyrosine kinase activity, leading to uncontrolled erythropoiesis.

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11
Q

What are the sites of fetal erythropoiesis?

A

Yolk sac (week 3-8), Liver (week 6-birth), Spleen (week 10-28), Bone marrow (week 18 onwards).

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12
Q

What regulates erythropoiesis?

A

Erythropoietin (EPO), primarily secreted by renal peritubular interstitial cells in response to hypoxia.

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13
Q

What is the function of erythropoietin (EPO)?

A

Stimulates erythropoiesis by promoting differentiation of progenitor cells into red blood cells.

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14
Q

How is iron absorbed in the body?

A

Iron is absorbed in the duodenum and proximal jejunum as Fe2+ via DMT-1 transporter and exported via ferroportin.

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15
Q

What inhibits iron absorption?

A

Calcium, tannins (tea/coffee), phytates (grains), and hepcidin.

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16
Q

What is the mechanism of anemia of chronic disease?

A

Increased IL-6 → Increased hepcidin → Decreased ferroportin → Reduced iron availability for RBC production.

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17
Q

What are the defining features of microcytic anemia?

A

MCV <80 fL, caused by iron deficiency, lead poisoning, thalassemia, or anemia of chronic disease.

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18
Q

What is the genetic mutation in sickle cell disease?

A

A point mutation in the β-globin gene results in Glu → Val substitution at position 6.

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19
Q

What is the treatment for sickle cell disease?

A

Hydroxyurea (increases HbF), hydration, pain control, antibiotics for infections, and blood transfusions if severe.

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20
Q

What is the Philadelphia chromosome?

A

t(9:22) translocation between BCR and ABL1 genes, leading to a constitutively active tyrosine kinase in CML.

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21
Q

What is the treatment for chronic myeloid leukemia (CML)?

A

Tyrosine kinase inhibitors like imatinib, dasatinib, or nilotinib.

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22
Q

What are Howell-Jolly bodies, and when are they seen?

A

Nuclear remnants in RBCs, seen in asplenia or splenectomy.

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23
Q

What are Heinz bodies, and what condition are they associated with?

A

Denatured hemoglobin inclusions seen in G6PD deficiency, identified with supravital stains.

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24
Q

What is the pathophysiology of paroxysmal nocturnal hemoglobinuria (PNH)?

A

Acquired mutation in PIGA gene leads to loss of GPI-anchored proteins CD55/CD59, causing complement-mediated RBC lysis.

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25
What is the classic blood smear finding in hereditary spherocytosis?
Spherocytes with increased mean corpuscular hemoglobin concentration (MCHC).
26
What test is used to diagnose hereditary spherocytosis?
Osmotic fragility test, eosin-5-maleimide binding test.
27
What is the mechanism of action of hydroxyurea in sickle cell disease?
Increases HbF production, reducing sickling of RBCs and vaso-occlusive crises.
28
What is the primary treatment for von Willebrand disease?
Desmopressin (DDAVP) increases vWF release from endothelial cells, or factor VIII replacement if severe.
29
What is the pathophysiology of thrombotic thrombocytopenic purpura (TTP)?
Deficiency or inhibition of ADAMTS13 leads to accumulation of large vWF multimers, causing platelet aggregation and microangiopathy.
30
What is the diagnostic pentad of TTP?
Microangiopathic hemolytic anemia, thrombocytopenia, renal dysfunction, neurological symptoms, fever.
31
What is the most common inherited hypercoagulable state?
Factor V Leiden mutation, causing resistance to activated protein C, increasing thrombotic risk.
32
What is the treatment for heparin-induced thrombocytopenia (HIT)?
Discontinue heparin, start direct thrombin inhibitors (argatroban, bivalirudin).
33
What is the characteristic finding of aplastic anemia on bone marrow biopsy?
Hypocellular marrow with fatty infiltration ('dry tap').
34
What are the key differences between Hodgkin and non-Hodgkin lymphoma?
Hodgkin: Contiguous spread, Reed-Sternberg cells (CD15+, CD30+). Non-Hodgkin: Non-contiguous, various B-/T-cell subtypes.
35
What is the characteristic translocation in Burkitt lymphoma?
t(8:14) translocation involving c-myc and Ig heavy chain gene.
36
What is the classic histological appearance of Burkitt lymphoma?
Starry sky appearance due to interspersed macrophages among rapidly dividing tumor cells.
37
What is the primary mutation in follicular lymphoma?
t(14:18) translocation leading to overexpression of BCL-2, preventing apoptosis.
38
What is Richter transformation?
Transformation of chronic lymphocytic leukemia (CLL) into an aggressive diffuse large B-cell lymphoma (DLBCL).
39
What is the primary treatment for diffuse large B-cell lymphoma (DLBCL)?
R-CHOP regimen: Rituximab, Cyclophosphamide, Doxorubicin, Vincristine, Prednisone.
40
What are the main complications of tumor lysis syndrome (TLS)?
Hyperkalemia, hyperphosphatemia, hypocalcemia, hyperuricemia, acute kidney injury.
41
What is multiple myeloma, and what are its key markers?
Plasma cell malignancy. CRAB criteria: HyperCalcemia, Renal failure, Anemia, Bone lesions.
42
What are the diagnostic tests for multiple myeloma?
Serum protein electrophoresis (SPEP) shows M spike, bone marrow biopsy (>10% plasma cells), Bence Jones proteins in urine.
43
What is the mechanism of action of rituximab?
Anti-CD20 monoclonal antibody targeting B-cell malignancies.
44
What are schistocytes, and when are they seen?
Fragmented RBCs seen in microangiopathic hemolytic anemias like TTP, HUS, and DIC.
45
What is the classic lab finding in disseminated intravascular coagulation (DIC)?
Increased PT/PTT, increased D-dimer, thrombocytopenia, decreased fibrinogen, schistocytes on smear.
46
What are the treatment options for acute myeloid leukemia (AML)?
Induction chemotherapy with cytarabine and daunorubicin, bone marrow transplant if refractory.
47
What is the defining genetic abnormality in acute promyelocytic leukemia (APL)?
t(15:17) translocation involving PML-RARA, disrupting retinoic acid receptor function.
48
What is the treatment for acute promyelocytic leukemia (APL)?
All-trans retinoic acid (ATRA) and arsenic trioxide.
49
What is the characteristic finding of chronic lymphocytic leukemia (CLL)?
Smudge cells on peripheral smear, CD5+ B-cell malignancy.
50
What is the treatment for Waldenström macroglobulinemia?
Plasmapheresis for hyperviscosity, rituximab, and chemotherapy if symptomatic.
51
What is the mechanism of action of bortezomib?
Proteasome inhibitor used in multiple myeloma and mantle cell lymphoma.
52
53
What are the stages of erythropoiesis?
Hematopoietic stem cell (CD34+) → Common myeloid progenitor → Proerythroblast → Erythroblast → Normoblast → Reticulocyte → Erythrocyte.
54
What is the function of GATA1 in erythropoiesis?
GATA1 is a transcription factor crucial for erythroid lineage commitment and hemoglobin synthesis.
55
What is Diamond-Blackfan anemia?
Congenital pure red cell aplasia due to defective ribosomal protein genes, leading to macrocytic anemia and triphalangeal thumbs.
56
What is the pathogenesis of lead poisoning?
Lead inhibits ferrochelatase and ALA dehydratase, leading to basophilic stippling and ringed sideroblasts.
57
What is the most sensitive marker for iron deficiency anemia?
Serum ferritin is the earliest marker to decrease in iron deficiency anemia.
58
What are the differences between folate and B12 deficiency?
Both cause macrocytic anemia. B12 deficiency also causes neurological symptoms due to methylmalonic acid accumulation.
59
Why does folate deficiency cause megaloblastic anemia?
Folate is needed for thymidylate synthesis; deficiency leads to defective DNA synthesis and nuclear maturation.
60
What is the role of CD55 and CD59 in RBC survival?
CD55 (Decay-accelerating factor) and CD59 (MAC inhibitory protein) protect RBCs from complement-mediated lysis.
61
What is Warm Autoimmune Hemolytic Anemia (AIHA)?
IgG-mediated RBC destruction at body temperature, associated with CLL, SLE, and methyldopa use.
62
How does paroxysmal nocturnal hemoglobinuria lead to thrombosis?
Loss of GPI-anchored proteins leads to complement activation, chronic intravascular hemolysis, and nitric oxide depletion, promoting thrombosis.
63
What is the role of t(12:21) in B-ALL?
This translocation involves TEL-AML1 fusion, seen in childhood B-ALL, associated with a good prognosis.
64
What is Mycosis Fungoides?
A cutaneous T-cell lymphoma characterized by epidermotropic CD4+ T-cells, progressing to Sézary syndrome in advanced disease.
65
What mutation drives Hairy Cell Leukemia?
BRAF V600E mutation leads to constitutive MAP kinase activation, driving clonal B-cell proliferation.
66
What is the function of the ALK gene in anaplastic large cell lymphoma?
ALK encodes a tyrosine kinase that promotes uncontrolled lymphoid proliferation when mutated.
67
What is the mechanism of Glanzmann thrombasthenia?
Deficiency of GpIIb/IIIa prevents platelet aggregation via fibrinogen cross-linking.
68
What is the function of ADAMTS13?
ADAMTS13 cleaves large vWF multimers; deficiency leads to platelet-rich microthrombi in TTP.
69
What are the key lab findings in disseminated intravascular coagulation (DIC)?
Increased PT, aPTT, D-dimer, and schistocytes; decreased platelets and fibrinogen.
70
What is the pathophysiology of primary myelofibrosis?
JAK2/MPL mutations lead to dysregulated megakaryocyte proliferation, releasing TGF-β, causing marrow fibrosis.
71
How does Waldenström macroglobulinemia differ from multiple myeloma?
WM produces IgM, leading to hyperviscosity; MM produces IgG/IgA, causing lytic bone lesions.
72
What is the mechanism of action of daratumumab?
Anti-CD38 monoclonal antibody used in multiple myeloma, leading to plasma cell apoptosis via complement activation.
73
What is the role of PD-L1 inhibitors in cancer therapy?
PD-L1 inhibitors (e.g., pembrolizumab, nivolumab) restore T-cell function by blocking immune evasion.
74
What is the function of BCL-2 in follicular lymphoma?
BCL-2 inhibits apoptosis; its overexpression via t(14:18) prevents normal cell death in lymphoma cells.
75
What are the hallmark features of Li-Fraumeni syndrome?
Inherited TP53 mutation causing predisposition to sarcomas, breast cancer, leukemias, and brain tumors.
76
What is the mechanism of imatinib in CML?
Imatinib inhibits the BCR-ABL tyrosine kinase, blocking unchecked myeloid proliferation.
77
What is the primary treatment for polycythemia vera?
Therapeutic phlebotomy to reduce hematocrit and lower thrombotic risk.
78
What is the function of ruxolitinib in polycythemia vera?
Ruxolitinib is a JAK2 inhibitor that reduces hematopoietic stem cell activation and symptom burden.
79
When is ruxolitinib used in polycythemia vera?
It is used when hydroxyurea and pegylated interferon fail.
80
What are the second-line treatments for polycythemia vera?
Hydroxyurea and pegylated interferon-α.
81
What is the mechanism of action of hydroxyurea in polycythemia vera?
Hydroxyurea suppresses RBC production by inhibiting ribonucleotide reductase.
82
What is the role of pegylated interferon-α in polycythemia vera?
It reduces erythropoiesis and is preferred in younger patients or those intolerant to hydroxyurea.
83
Does any treatment prevent malignant transformation in polycythemia vera?
No, current treatments reduce thrombotic risk and symptoms but do not prevent progression to myelofibrosis or leukemia.
84
Why is rituximab (anti-CD20) not used in polycythemia vera?
Rituximab is used for B-cell malignancies and immune thrombocytopenia, not myeloproliferative disorders.
85
Why is adalimumab (anti-TNF-α) not used in polycythemia vera?
Adalimumab treats autoimmune diseases like rheumatoid arthritis, ankylosing spondylitis, and IBD.
86
Why is abciximab (GpIIb/IIIa inhibitor) not used in polycythemia vera?
Abciximab is an antiplatelet agent used for cardiovascular indications, not myeloproliferative diseases.
87
Why is bevacizumab (anti-VEGF) not used in polycythemia vera?
Bevacizumab is used for angiogenesis inhibition in solid tumors and retinal diseases, not PV.
88
What is the primary mutation in primary myelofibrosis?
JAK2 mutation, leading to excessive TGF-beta production by megakaryocytes.
89
How does primary myelofibrosis lead to fibrosis?
Abnormal megakaryocytes secrete TGF-beta, which stimulates fibroblast activity, causing bone marrow fibrosis.
90
What are the consequences of bone marrow fibrosis in primary myelofibrosis?
Bone marrow destruction leads to pancytopenia and extramedullary hematopoiesis.
91
What is extramedullary hematopoiesis?
Compensatory blood cell production occurring in the liver and spleen due to bone marrow failure.
92
What are common symptoms of primary myelofibrosis?
Fatigue, splenomegaly, hepatomegaly, anemia, night sweats, weight loss.
93
What are the characteristic blood smear findings in primary myelofibrosis?
Dacrocytes (tear-drop cells), leukoerythroblastosis, and nucleated RBCs.
94
Why does primary myelofibrosis cause pancytopenia?
Bone marrow fibrosis disrupts normal hematopoiesis, leading to decreased RBCs, WBCs, and platelets.
95
What are the treatment options for primary myelofibrosis?
JAK2 inhibitors (ruxolitinib), allogeneic stem cell transplantation, supportive care.
96
What is the role of ruxolitinib in primary myelofibrosis?
Ruxolitinib is a JAK2 inhibitor that reduces splenomegaly and symptom burden but does not cure the disease.
97
Why does primary myelofibrosis cause massive splenomegaly?
Extramedullary hematopoiesis occurs in the spleen, leading to significant enlargement.

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