Haematology Flashcards
1
Q
- What is the most common cause of anemia in children worldwide?
A
Most common cause: Iron deficiency
- Due to poor dietary intake, rapid growth, blood loss (GI or parasitic)
2
Q
- What is aplastic anemia and how does it present in children?
A
Aplastic anemia: Pancytopenia due to bone marrow failure
- Presents with pallor, bleeding, infections
3
Q
- What is the treatment for aplastic anemia in children?
A
Treatment: Supportive care, immunosuppressive therapy, bone marrow transplant (curative in severe cases)
4
Q
- What are the lab findings in hemolytic anemia?
A
Lab: ↑LDH, ↑reticulocyte count, ↓haptoglobin, indirect hyperbilirubinemia, hemoglobinuria
5
Q
- What are the differences between aplastic anemia and leukemia?
A
Aplastic anemia: Hypocellular marrow, no blasts
- Leukemia: Hypercellular marrow, presence of blasts
6
Q
- What is autoimmune hemolytic anemia (AIHA) in children?
A
AIHA: Autoantibody-mediated RBC destruction
- Can be warm (IgG) or cold (IgM)
7
Q
- What is Diamond-Blackfan anemia?
A
Diamond-Blackfan anemia: Congenital pure red cell aplasia
- Usually presents in infancy
8
Q
- What are the clinical features of Diamond-Blackfan anemia?
A
Features: Macrocytic anemia, low retic count, craniofacial anomalies, thumb anomalies, short stature
9
Q
- How is Diamond-Blackfan anemia diagnosed?
A
Diagnosis: Macrocytic anemia, elevated eADA activity, ribosomal protein gene mutation, normal marrow cellularity with absent red cell precursors
10
Q
- What is the treatment of Diamond-Blackfan anemia?
A
Treatment: Steroids (1st line), transfusions, bone marrow transplant for refractory cases
11
Q
- What are the hematologic features of Fanconi anemia?
A
Fanconi: Pancytopenia, congenital anomalies (thumb, radius), café-au-lait spots, short stature
- Increased chromosomal breakage
12
Q
- What is physiologic anemia of infancy?
A
Physiologic anemia: Drop in Hb due to decreased erythropoietin after birth
- Nadir at 8–12 weeks (Hb ~9–11 g/dL)
13
Q
- How is TEC different from Diamond-Blackfan anemia?
A
TEC: No congenital anomalies, normal MCV
- DBA: Congenital anomalies, macrocytosis, presents earlier (infancy)
14
Q
- What is the clinical significance of reticulocyte count in anemia?
A
Retic count reflects marrow response
- High in hemolysis, low in aplastic or marrow failure states
15
Q
- How is sickle cell anemia diagnosed in children?
A
Diagnosis: Newborn screening, sickling test, Hb electrophoresis showing HbS >90%, no HbA
16
Q
- What are the causes of aplastic anemia in pediatrics?
A
Causes: Idiopathic, viral (EBV, hepatitis), drugs (chloramphenicol), autoimmune, Fanconi anemia, radiation
17
Q
- How is aplastic anemia diagnosed?
A
Diagnosis: CBC (pancytopenia), bone marrow biopsy (hypocellular), rule out malignancy
18
Q
- What are the key features of iron deficiency anemia in children?
A
Features: Pallor, fatigue, pica, irritability, delayed cognitive development
- Nails may show koilonychia
19
Q
- How is iron deficiency anemia diagnosed in pediatric patients?
A
Diagnosis: Low Hb, low MCV, low serum iron, low ferritin, high TIBC
- Peripheral smear: Microcytic hypochromic cells
20
Q
- What are the common causes of microcytic anemia in children?
A
Causes: Iron deficiency, thalassemia trait, anemia of chronic disease, lead poisoning, sideroblastic anemia
21
Q
- How is iron overload monitored in children with thalassemia?
A
Monitoring: Ferritin levels, liver MRI (T2*), cardiac MRI for iron load
- Ferritin can be affected by inflammation
22
Q
- What is the treatment of iron deficiency anemia in children?
A
Treatment: Oral iron (3–6 mg/kg/day elemental iron)
- Continue 2–3 months after normalization of Hb to replenish stores
23
Q
- What are the causes of macrocytic anemia in children?
A
Causes: Vitamin B12 deficiency, folate deficiency, hypothyroidism, liver disease, Down syndrome, certain medications (e.g., phenytoin)
24
Q
- What is the most common cause of megaloblastic anemia in pediatrics?
A
Most common: Folate deficiency
- Rapidly dividing cells are most affected (e.g., bone marrow, GI mucosa)
25
186. What is sideroblastic anemia and how is it diagnosed?
Sideroblastic anemia: Defective heme synthesis → iron accumulation in mitochondria
- Diagnosed with Prussian blue staining
26
17. What are the common iron chelation therapies used in children?
Chelation: Deferoxamine (SC/IV), Deferasirox (oral), Deferiprone (oral)
- Choice depends on age, adherence, iron burden
27
85. What are the types of von Willebrand disease (vWD)?
Types:
- Type 1: Partial quantitative deficiency
- Type 2: Qualitative defect
- Type 3: Complete deficiency
28
164. What are the hematologic findings in vitamin K deficiency bleeding (VKDB)?
Findings: Prolonged PT > aPTT, normal platelet count, low vitamin K-dependent factors (II, VII, IX, X)
29
99. What is the role of antithrombin III in coagulation?
Antithrombin III: Inhibits thrombin and factor Xa
- Deficiency leads to increased thrombosis risk
30
95. What is the role of fibrinogen in coagulation and when is it replaced?
Fibrinogen: Essential for clot formation
- Replace with cryoprecipitate if <100 mg/dL and bleeding
31
89. What are the lab findings in hemophilia A?
Lab: Normal platelets/PT, prolonged aPTT
- Low factor VIII activity
- Normal bleeding time
32
88. What is the significance of mixing studies in bleeding disorders?
Mixing studies: Differentiate factor deficiency (correction) from inhibitor (no correction)
- Useful in prolonged aPTT
33
63. What are the common bleeding manifestations of thrombocytopenia?
Manifestations: Petechiae, purpura, epistaxis, gum bleeding, menorrhagia, prolonged bleeding post-injury
34
77. What are the differences between platelet-type and vascular-type bleeding?
Platelet-type: Mucosal bleeding, petechiae, epistaxis
- Vascular-type: Hemarthrosis, deep muscle bleeding
35
78. What are the common coagulation disorders in children?
Disorders: Hemophilia A/B, von Willebrand disease, vitamin K deficiency, liver disease, DIC
36
79. How is hemophilia A inherited and what is deficient?
Inheritance: X-linked recessive
- Deficiency of factor VIII
- Mainly affects boys
37
80. What are the clinical features of hemophilia A?
Features: Hemarthrosis, deep muscle bleeds, prolonged bleeding after trauma/surgery
- Petechiae uncommon
38
87. What are the treatment options for von Willebrand disease?
Treatment: DDAVP for mild Type 1, vWF-containing factor VIII concentrates, antifibrinolytics (tranexamic acid)
39
82. What is the role of factor replacement in hemophilia management?
Factor replacement: Mainstay of treatment
- On-demand or prophylactic
- Factor VIII for A, IX for B
40
83. What are the complications of factor therapy in hemophilia?
Complications: Inhibitor development (antibodies), allergic reactions, transmission of infections (rare now)
41
84. What is the role of desmopressin (DDAVP) in bleeding disorders?
DDAVP: Increases vWF and factor VIII levels
- Useful in mild hemophilia A and type 1 vWD
42
91. What is disseminated intravascular coagulation (DIC) and what are its causes in children?
DIC: Widespread activation of clotting → consumption of platelets & factors
- Causes: Sepsis, trauma, leukemia, shock, burns
43
81. How is hemophilia B different from hemophilia A?
Hemophilia B: Deficiency of factor IX
- Clinically indistinguishable from hemophilia A
- Also X-linked recessive
44
100. What are the indications for anticoagulation in pediatric patients?
Indications: DVT, PE, cardiac conditions, catheter-related thrombosis, prolonged immobility, inherited thrombophilia with events
45
180. What are the indications for bone marrow biopsy in children?
Indications: Unexplained cytopenias, suspected leukemia, marrow failure, storage diseases, HLH, metastasis
46
53. What are the common causes of pancytopenia in children?
Causes: Leukemia, aplastic anemia, infections (parvovirus, EBV), Fanconi anemia, SLE, infiltration
47
167. What are the hematologic complications of ECMO in pediatric patients?
Complications: Bleeding (due to anticoagulation), thrombosis, hemolysis, DIC, platelet consumption
48
170. What is the role of hematology in pediatric palliative care?
Role: Managing cytopenias, transfusions, bleeding, and pain from marrow failure or malignancies
- Symptom control and quality of life
49
185. What are basophilic stipplings and when are they seen?
Seen in: Lead poisoning, thalassemia, sideroblastic anemia, arsenic poisoning
- Represent ribosomal remnants
50
175. What are the common causes of hypersplenism in children?
Causes: Thalassemia, chronic hemolytic anemias, portal hypertension, infections, storage diseases
51
119. What laboratory abnormalities are seen in tumor lysis syndrome?
Findings: Hyperkalemia, hyperphosphatemia, hypocalcemia, hyperuricemia, ↑creatinine
52
118. What is the role of tumor lysis syndrome in hematologic malignancies?
TLS: Rapid lysis of malignant cells → electrolyte imbalance and AKI
- Common in high-grade leukemia/lymphoma
53
176. What are the hematologic effects of hypersplenism?
Effects: Anemia, thrombocytopenia, neutropenia due to increased sequestration
- Often with splenomegaly
54
177. What is the evaluation strategy for splenomegaly with cytopenia?
Evaluation: CBC, peripheral smear, abdominal US, viral serologies, marrow if persistent or unexplained
55
115. What is the difference between ALL and AML in clinical presentation?
ALL: Lymphadenopathy, CNS involvement, more common in young children
- AML: Gingival hypertrophy, chloromas, DIC (M3)
56
114. What are the long-term complications of ALL treatment?
Complications: Growth delay, cognitive dysfunction, infertility, secondary malignancy, cardiotoxicity (anthracyclines)
57
113. What are the phases of treatment in ALL?
Phases: Induction, consolidation, CNS prophylaxis, maintenance
- Duration: 2–3 years
58
112. What cytogenetic abnormalities are associated with poor prognosis in ALL?
Poor prognosis: t(9;22) BCR-ABL, t(4;11), hypodiploidy
- Good prognosis: t(12;21), hyperdiploidy
59
179. What is the role of flow cytometry in pediatric hematology?
Flow cytometry: Immunophenotyping of leukemia/lymphoma, PNH screening, immune deficiency workup
60
148. What are the indications for hematopoietic stem cell transplantation in hematologic diseases?
Indications: Severe thalassemia, SCD, relapsed leukemia, aplastic anemia, HLH, MDS, certain immunodeficiencies
61
183. What are the hematologic manifestations of vitamin B6 deficiency?
Features: Microcytic hypochromic anemia, neurologic symptoms, irritability
- May resemble iron deficiency
62
108. What are the warning signs of malignant lymphadenopathy?
Warning signs: Hard/fixed nodes, supraclavicular location, systemic symptoms (fever, weight loss, night sweats), hepatosplenomegaly
63
98. What are the clinical features of protein C or S deficiency?
Features: Neonatal purpura fulminans, recurrent DVTs, PE, family history of thrombosis
64
107. What is the approach to a child with lymphadenopathy?
Approach: History, exam (size, location, consistency), CBC, imaging if >2–3 cm, persistent, or suspicious features
65
184. How does lead poisoning affect hematopoiesis?
Lead inhibits heme synthesis enzymes (ALA dehydratase, ferrochelatase) → microcytic anemia, basophilic stippling
66
105. What are the causes of leukocytosis in children?
Causes: Infections, inflammation, stress, steroids, leukemia, myeloproliferative disorders
67
10. What is the Schilling test and is it used in pediatrics?
Schilling test: Tests B12 absorption using radiolabeled B12
- Rarely used in pediatrics today; replaced by serum B12 and intrinsic factor antibody tests
68
38. How is AIHA diagnosed and managed?
Diagnosis: Positive direct Coombs test
- Management: Steroids, IVIG, rituximab if refractory
69
123. What is the treatment and complication of APL?
Treatment: ATRA + arsenic trioxide ± chemo
- Complication: DIC, differentiation syndrome (fever, pulmonary edema)
70
8. What are the clinical features of vitamin B12 deficiency in children?
Features: Pallor, glossitis, irritability, developmental delay, neuro deficits (ataxia, neuropathy)
71
146. What is the role of erythropoietin in erythropoiesis and in disease?
EPO: Stimulates RBC production in response to hypoxia
- Elevated in secondary polycythemia or tumors
72
150. What are the complications of stem cell transplantation in pediatric hematology?
Complications: Graft-versus-host disease (GVHD), infections, veno-occlusive disease, organ toxicity, relapse
73
151. What are the diagnostic criteria for myeloproliferative disorders in children?
Criteria: Based on WHO classification—CBC, marrow biopsy, cytogenetics (e.g., JAK2, CALR, MPL), and exclusion of reactive causes
74
152. What is essential thrombocythemia and how is it diagnosed in children?
ET: Sustained platelet count >450,000, marrow megakaryocytic proliferation, exclusion of secondary causes
- Rare in children
75
154. What is primary myelofibrosis in children and its presentation?
Primary myelofibrosis: Bone marrow fibrosis → anemia, splenomegaly, leukoerythroblastic smear
- Rare but possible in children
76
155. How are myeloproliferative neoplasms treated in pediatric patients?
Treatment: Supportive (e.g., phlebotomy for PV), cytoreduction (hydroxyurea), aspirin
- BMT for advanced or aggressive disease
77
139. What are the major types of pediatric NHL?
Types: Burkitt lymphoma, lymphoblastic lymphoma, large B-cell lymphoma, anaplastic large cell lymphoma
78
156. What is erythroblastosis fetalis and what causes it?
Erythroblastosis fetalis: Hemolytic disease due to Rh incompatibility
- Fetal anemia, hydrops, elevated reticulocytes, nucleated RBCs
79
157. How is hemolytic disease of the newborn prevented?
Prevention: Anti-D immunoglobulin to Rh-negative mothers at 28 weeks and postpartum if baby is Rh-positive
80
40. What are Heinz bodies and in which condition are they seen?
Heinz bodies: Denatured hemoglobin seen in G6PD deficiency
- Stained with supravital stain
81
159. What is Kasabach-Merritt phenomenon?
Kasabach-Merritt: Consumptive coagulopathy associated with vascular tumors (e.g., kaposiform hemangioendothelioma)
- Thrombocytopenia, coagulopathy
82
161. What are transient myeloproliferative disorders (TMD) in neonates with Down syndrome?
TMD: Clonal proliferation of immature megakaryoblasts in neonates with Down syndrome
- Self-limiting in most cases
83
163. What is the prognosis and management of TMD in neonates?
Prognosis: Good in most cases
- Management: Supportive; low-dose cytarabine for symptomatic or high WBC cases
84
9. How does folate deficiency present differently from B12 deficiency?
Folate deficiency: No neurologic symptoms
- B12 deficiency: Neurologic signs like paresthesias, delayed milestones
85
130. What is the treatment for CML in pediatric patients?
Treatment: Tyrosine kinase inhibitors (e.g., imatinib)
- BMT for refractory or advanced phases
86
165. What is the classification of VKDB based on timing?
Classification: Early (0–24h), Classical (2–7 days), Late (2–12 weeks; common in breastfed infants)
87
166. What is the treatment of VKDB in neonates?
Treatment: IV/IM vitamin K (1–2 mg), FFP for active bleeding
- Prophylaxis: 1 mg IM at birth
88
127. How are MDS diagnosed and managed in pediatrics?
Diagnosis: Bone marrow biopsy (dysplastic features, blasts), cytogenetics
- Treatment: Supportive ± BMT
89
126. What are myelodysplastic syndromes (MDS) in children?
MDS: Ineffective hematopoiesis with dysplasia
- May evolve into AML
- Often secondary to prior chemo/radiation
90
125. What are the features of JMML and how is it diagnosed?
Diagnosis: Persistent monocytosis >1000/μL, <20% blasts, splenomegaly, molecular markers (RAS, NF1, PTPN11)
91
160. What are the hematologic manifestations of Down syndrome in neonates and infants?
Manifestations: Transient myeloproliferative disorder (TMD), increased leukemia risk (esp. AML-M7), macrocytosis, thrombocytopenia
92
188. What is the difference between intravascular and extravascular hemolysis?
Intravascular: Free Hb in plasma/urine, ↓haptoglobin, ↑LDH
- Extravascular: Splenomegaly, indirect hyperbilirubinemia
93
97. What are the common inherited thrombophilias in children?
Thrombophilias: Factor V Leiden, prothrombin G20210A mutation, protein C/S deficiency, antithrombin III deficiency
94
92. What are the laboratory findings in DIC?
Labs: ↓Platelets, ↓fibrinogen, ↑PT/aPTT, ↑D-dimer, schistocytes on smear
95
74. What is Glanzmann thrombasthenia?
Glanzmann: Deficiency of GpIIb/IIIa → defective platelet aggregation
- Normal platelet count and size
96
73. What is the pathophysiology of Bernard-Soulier syndrome?
Bernard-Soulier: Defect in GpIb → defective platelet adhesion
- Large platelets, prolonged bleeding time
97
72. What are the features of Wiskott-Aldrich syndrome?
Features: X-linked, thrombocytopenia, eczema, recurrent infections
- Small platelets, T-cell dysfunction
98
93. How is DIC managed in pediatric patients?
Management: Treat underlying cause, support with platelets, FFP, cryoprecipitate, heparin in selected cases
99
65. What is Evans syndrome?
Evans syndrome: Autoimmune hemolytic anemia + ITP
- May also involve neutropenia
- Chronic and relapsing course
100
190. What is the role of erythropoietin-stimulating agents in pediatric hematology?
ESAs (e.g., EPO): Used in CKD-related anemia
- Stimulate marrow to produce RBCs
- Requires adequate iron stores
101
191. What are Howell-Jolly bodies and when are they seen?
Howell-Jolly bodies: Nuclear remnants in RBCs
- Seen after splenectomy, in hyposplenism (e.g., SCD)
102
192. What are teardrop cells and their clinical significance?
Teardrop cells (dacrocytes): Seen in myelofibrosis, marrow infiltration, thalassemia
- Sign of distorted erythropoiesis
103
75. How is Glanzmann thrombasthenia diagnosed?
Diagnosis: Prolonged bleeding time, absent platelet aggregation with ADP/epinephrine, normal ristocetin response
104
193. What is rouleaux formation and when is it observed?
Rouleaux: RBCs stacked like coins
- Seen in high plasma proteins (e.g., multiple myeloma, infections)
105
198. What is the clinical significance of mean corpuscular volume (MCV)?
MCV helps classify anemia:
- Microcytic (<80), normocytic (80–100), macrocytic (>100)
106
54. What is transient erythroblastopenia of childhood (TEC)?
TEC: Self-limited red cell aplasia, usually after viral illness
- Affects children 1–4 years, Hb low, retic low, normal WBC/platelets
107
31. What is hereditary spherocytosis and how does it present?
Hereditary spherocytosis: Congenital RBC membrane defect
- Presents with anemia, jaundice, splenomegaly, gallstones
108
32. How is hereditary spherocytosis diagnosed in children?
Diagnosis: CBC with increased MCHC, spherocytes on smear, osmotic fragility test, EMA binding test (preferred)
109
33. What is the treatment for hereditary spherocytosis?
Treatment: Folic acid, transfusions as needed, splenectomy for moderate to severe cases after age 5
110
34. What is G6PD deficiency and what triggers hemolysis?
G6PD deficiency: X-linked enzymopathy causing episodic hemolysis
- Triggers: fava beans, sulfa drugs, infections
111
35. What are the clinical features of G6PD deficiency?
Features: Jaundice, dark urine, pallor, fatigue during oxidative stress
- Self-limited if trigger removed
112
36. How is G6PD deficiency diagnosed?
Diagnosis: Enzyme assay (wait 2–3 weeks post-hemolysis)
- Peripheral smear: Bite cells, Heinz bodies
113
195. What are nucleated red blood cells (NRBCs) and what do they suggest?
NRBCs: Immature RBCs in peripheral blood
- Seen in severe anemia, marrow stress, hypoxia, newborns
114
76. What is the first-line treatment for Glanzmann thrombasthenia?
First-line: Local measures, platelet transfusion for severe bleeding
- Recombinant factor VIIa in refractory cases
115
149. What is the difference between autologous and allogeneic transplant?
Autologous: Patient’s own cells (for solid tumors)
- Allogeneic: Donor cells (for marrow failure, leukemia, hemoglobinopathies)
116
20. What is Hb Bart’s hydrops fetalis?
Hb Bart’s: Most severe form of alpha-thalassemia (deletion of all 4 alpha genes)
- Incompatible with life (hydrops fetalis)
117
27. What is acute chest syndrome and how is it managed?
Acute chest: Fever, cough, hypoxia, new infiltrate on CXR
- Treat with O2, antibiotics, pain control, exchange transfusion
118
86. How is vWD diagnosed in children?
Diagnosis: Prolonged bleeding time, low vWF antigen/activity, decreased factor VIII
- Ristocetin cofactor assay used
119
90. What are the causes of prolonged PT and aPTT in a child?
Causes: Liver disease, vitamin K deficiency, DIC, anticoagulant use, congenital factor deficiencies
120
29. What are the indications for bone marrow transplant in sickle cell disease?
Indications: Severe disease, stroke history, frequent hospitalizations, matched sibling donor available
121
51. What is the normal pattern of hemoglobin switching in infants?
HbF is predominant at birth, gradually replaced by HbA
- By 6 months, HbA becomes predominant; HbA2 remains low
122
14. What are the treatment components of beta-thalassemia major?
Treatment: Regular transfusions, iron chelation, folic acid, splenectomy (select cases), bone marrow transplant (curative)
123
13. What is the role of Hb electrophoresis in thalassemia diagnosis?
Hb electrophoresis: Differentiates types of hemoglobin (HbA, HbF, HbA2)
- Key test in diagnosing beta-thalassemia
124
18. What is the inheritance pattern of thalassemia?
Inheritance: Autosomal recessive
- Risk ↑ with consanguinity
- Carrier parents: 25% chance of affected child
125
28. What is the prophylactic treatment for children with sickle cell disease?
Prophylaxis: Penicillin (until age 5), pneumococcal vaccination, folic acid, regular TCD screening
126
19. What are the hematologic features of alpha-thalassemia trait?
Features: Mild anemia, low MCV, normal or mildly increased RBC count
- Hb electrophoresis usually normal
127
26. What are the complications of sickle cell disease?
Complications: Stroke, ACS, splenic infarction, priapism, retinopathy, renal failure, avascular necrosis
128
143. What is hemoglobin H disease and how does it present?
HbH disease: Deletion of 3 alpha-globin genes
- Moderate hemolytic anemia, hepatosplenomegaly, target cells, HbH inclusion bodies
129
12. How is beta-thalassemia major diagnosed?
Diagnosis: Hb electrophoresis shows ↑HbF, ↓HbA, ↑HbA2
- Confirmed by genetic testing
- Severe microcytic hypochromic anemia
130
11. What are the clinical features of thalassemia major in children?
Features: Severe anemia, hepatosplenomegaly, growth retardation, bone deformities (frontal bossing, maxillary overgrowth)
131
21. What are the clinical features of sickle cell disease in children?
Features: Anemia, pain episodes, dactylitis, splenomegaly, infections, delayed growth, stroke risk
132
189. What is paroxysmal nocturnal hemoglobinuria (PNH) and how is it detected?
PNH: Complement-mediated hemolysis due to lack of GPI-anchored proteins (CD55/59)
- Diagnosed with flow cytometry
133
22. What are the types of sickle cell crises?
Types: Vaso-occlusive, aplastic, sequestration, hemolytic, acute chest syndrome
- Each has distinct features and triggers
134
24. What is the role of hydroxyurea in sickle cell disease?
Hydroxyurea: Increases HbF, reduces frequency of pain crises and acute chest syndrome
- Indicated in frequent crises
135
25. What are the indications for chronic transfusion in sickle cell patients?
Indications: Stroke prevention, recurrent ACS, high TCD velocities, preparation for surgery
136
15. What are the complications of chronic blood transfusion in thalassemia?
Complications: Iron overload, alloimmunization, infections (esp. with Hep B/C), growth delay, endocrinopathies
137
30. How does splenic sequestration present in a child with sickle cell disease?
Presentation: Sudden pallor, rapid splenomegaly, hypovolemic shock, drop in Hb
- Emergency requiring transfusion
138
103. What are the key laboratory features of HLH?
Labs: Pancytopenia, ↑ferritin, ↑LDH, ↑triglycerides, ↓fibrinogen, high IL-2 receptor (sCD25), low NK function
139
102. What are the diagnostic criteria for HLH?
Criteria: 5 of 8—Fever, splenomegaly, cytopenias, ↑ferritin, ↑triglycerides, ↓fibrinogen, hemophagocytosis, ↓NK cell activity
140
104. How is HLH managed in pediatric patients?
Management: Immunosuppression (dexamethasone, etoposide, cyclosporine), treat trigger, BMT for familial HLH
141
101. What is hemophagocytic lymphohistiocytosis (HLH) and what are its triggers in children?
HLH: Hyperinflammatory syndrome due to uncontrolled immune activation
- Triggers: EBV, malignancy, autoimmune, genetic mutations
142
158. What are the hematologic effects of TORCH infections in neonates?
TORCH: Can cause anemia, thrombocytopenia, hepatosplenomegaly
- Common agents: CMV, rubella, toxoplasmosis
143
66. What are the common causes of neutropenia in children?
Causes: Viral infections, autoimmune disease, drugs (e.g., chemo), congenital syndromes, cyclic or idiopathic
144
67. What is severe congenital neutropenia (Kostmann syndrome)?
Kostmann syndrome: Autosomal recessive disorder with severe neutropenia from infancy
- Risk of serious infections
- G-CSF responsive
145
68. What is cyclic neutropenia and how does it present?
Cyclic neutropenia: Autosomal dominant, 21-day cycle of neutropenia
- Recurrent fever, ulcers, infections
- Diagnosed with serial CBC
146
69. How is neutropenia evaluated in children?
Evaluation: Serial CBCs, peripheral smear, ANC, infection history, autoantibodies, marrow if prolonged or severe
147
147. What is parvovirus B19 infection and its hematologic significance?
Parvovirus B19: Infects erythroid precursors → transient aplastic crisis in hemolytic anemias (e.g., SCD, HS)
148
70. What are the complications of severe neutropenia?
Complications: Life-threatening bacterial/fungal infections, mucositis, cellulitis, pneumonia, sepsis
149
196. What are the common red cell indices and their interpretation?
MCV: Indicates cell size
- Low in microcytic, high in macrocytic anemia
- MCH and MCHC give Hb content
150
200. What are the causes of elevated erythrocyte sedimentation rate (ESR) in children?
Causes: Infection, inflammation, autoimmune disease, malignancy
- Not specific but useful in monitoring
151
199. What is red cell distribution width (RDW) and what does it indicate?
RDW: Variation in RBC size
- Elevated in iron deficiency, recent transfusion, mixed anemia types
152
120. How is tumor lysis syndrome prevented and managed in leukemia patients?
Prevention: IV fluids, allopurinol or rasburicase, close monitoring
- Management: Correct electrolytes, dialysis if needed
153
106. What is the leukemoid reaction and how is it differentiated from leukemia?
Leukemoid: Marked leukocytosis >50,000 with left shift
- Normal LAP score, reactive cause
- Leukemia: Blasts, low LAP, abnormal karyotype
154
109. What is the most common leukemia in children?
Most common: Acute lymphoblastic leukemia (ALL)
- Peak age: 2–5 years
- Good prognosis with treatment
155
110. What are the presenting features of acute lymphoblastic leukemia (ALL)?
Features: Fatigue, pallor, fever, bone pain, lymphadenopathy, hepatosplenomegaly, bruising, infections
156
111. What are the diagnostic investigations for acute lymphoblastic leukemia (ALL)?
Investigations: CBC with peripheral smear, bone marrow aspiration, flow cytometry, cytogenetics (FISH, karyotype), CSF analysis
157
116. What are Auer rods and in which leukemia are they seen?
Auer rods: Needle-like inclusions in myeloblasts
- Seen in acute myeloid leukemia (esp. M3 - APL)
158
117. What is the most common leukemia in infants?
Most common in infants: Acute myeloid leukemia (AML), especially MLL-rearranged leukemia
159
121. What are the subtypes of acute myeloid leukemia (AML) in children?
Subtypes (FAB): M0–M7
- M3 (APL), M5 (monocytic), M6 (erythroid), M7 (megakaryocytic)
- Immunophenotyping helps classification
160
124. What is juvenile myelomonocytic leukemia (JMML)?
JMML: Clonal myeloproliferative/myelodysplastic disorder in young children
- Features: Monocytosis, hepatosplenomegaly, fever
161
128. What is the significance of the Philadelphia chromosome in pediatric leukemia?
Philadelphia chromosome: t(9;22), seen in CML and some ALL
- Poor prognosis in ALL, target for TKIs
162
129. What is chronic myeloid leukemia (CML) and how does it present in children?
CML: Chronic phase → accelerated/blast crisis
- Features: Leukocytosis, splenomegaly, fatigue, weight loss
163
131. What are the clinical features of Hodgkin lymphoma in children?
Features: Painless cervical/mediastinal lymphadenopathy, B-symptoms (fever, night sweats, weight loss), pruritus, fatigue
164
122. What are the clinical features of acute promyelocytic leukemia (APL, M3)?
APL (M3): Presents with pancytopenia, bleeding, DIC
- Unique association with t(15;17) translocation
165
162. How is TMD differentiated from acute leukemia in newborns?
TMD: Resolves spontaneously, <20% blasts, no organ failure
- Leukemia: Persistent blasts, organomegaly, bone marrow involvement
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141. What are the characteristic features of lymphoblastic lymphoma in children?
Lymphoblastic lymphoma: T-cell origin, mediastinal mass, pleural effusion, rapid progression
- Similar to ALL but presents as solid mass
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132. What are the types of Hodgkin lymphoma and which is most common in pediatrics?
Types: Nodular sclerosis (most common), mixed cellularity, lymphocyte-rich, lymphocyte-depleted
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140. How is Burkitt lymphoma diagnosed and treated in children?
Diagnosis: LN or mass biopsy, immunophenotyping (CD10, CD20, Ki-67), cytogenetics (t(8;14))
- Treatment: Intensive chemo (short cycles)
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138. How does non-Hodgkin lymphoma (NHL) present differently from Hodgkin in children?
NHL: Rapid progression, extranodal masses (abdomen, mediastinum), more aggressive
- Hodgkin: Gradual lymphadenopathy
170
137. What are the common long-term complications of Hodgkin lymphoma treatment?
Complications: Second malignancy, infertility, cardiopulmonary toxicity, thyroid dysfunction, growth issues
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136. What are the treatment options for pediatric Hodgkin lymphoma?
Treatment: Multi-agent chemotherapy ± radiotherapy based on stage and risk group
- High cure rates
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142. How is anaplastic large cell lymphoma (ALCL) identified and treated in pediatrics?
ALCL: CD30+, ALK-positive in most pediatric cases
- Presents with systemic symptoms, skin lesions
- Treated with chemotherapy
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135. What is the Ann Arbor staging system for lymphomas?
Ann Arbor: I (single site), II (≥2 same side diaphragm), III (both sides), IV (disseminated)
- A/B: Absence/presence of B-symptoms
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134. What investigations are used to diagnose and stage Hodgkin lymphoma?
Investigations: CBC, ESR, LDH, CXR, CT/PET scan, lymph node biopsy, bone marrow biopsy if advanced stage
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133. What are the B-symptoms in Hodgkin lymphoma and why are they significant?
B-symptoms: Fever >38°C, weight loss >10% in 6 months, night sweats
- Associated with worse prognosis
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173. How is typical HUS managed in pediatric patients?
Management: Supportive (fluids, electrolytes, BP management), dialysis if needed
- Avoid antibiotics and antimotility drugs
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174. What distinguishes atypical HUS from typical HUS?
Atypical HUS: No preceding diarrhea, complement dysregulation (e.g., factor H mutation)
- Poorer prognosis, requires eculizumab
178
171. What is the pathophysiology of hemolytic uremic syndrome (HUS)?
HUS: Shiga-toxin-mediated endothelial injury → microthrombi formation → MAHA, thrombocytopenia, AKI
179
194. What are schistocytes and what do they indicate?
Schistocytes: Fragmented RBCs
- Seen in MAHA, DIC, TTP, HUS, mechanical valves
180
172. What are the hematologic findings in HUS?
Findings: Anemia with schistocytes, thrombocytopenia, elevated LDH, low haptoglobin, ↑creatinine
181
94. What is the difference between DIC and TTP/HUS in children?
DIC: Consumptive coagulopathy with bleeding
- TTP/HUS: Microangiopathic hemolytic anemia with thrombocytopenia, normal PT/aPTT
182
153. What is the clinical significance of JAK2 mutation in pediatric hematology?
JAK2 V617F: Mutation in many myeloproliferative neoplasms (ET, PV, myelofibrosis)
- Less frequent in pediatric MPNs than adults
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60. When is bone marrow examination indicated in suspected ITP?
Indicated if atypical features: Hepatosplenomegaly, lymphadenopathy, anemia, leukopenia, or poor response to therapy
184
71. What are the causes of congenital thrombocytopenia?
Causes: Wiskott-Aldrich syndrome, TAR syndrome, congenital amegakaryocytic thrombocytopenia, infections (e.g., CMV), inherited marrow failure syndromes
185
64. What is the role of anti-D immunoglobulin in ITP?
Anti-D Ig: Used in Rh+ non-splenectomized children with ITP
- Causes mild hemolysis, increases platelet count
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59. What is the first-line treatment of ITP in children?
First-line: Observation if no bleeding; or IVIG, steroids
- Platelet transfusion only if life-threatening bleed
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62. What is the difference between acute and chronic ITP?
Acute ITP: Resolves within 6–12 months
- Chronic ITP: Persists beyond 12 months
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58. What are the clinical features of immune thrombocytopenic purpura (ITP)?
ITP: Sudden onset petechiae, purpura, mucosal bleeding in well-appearing child
- Often post-viral
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57. What is the differential diagnosis of isolated thrombocytopenia in children?
Causes: ITP, leukemia, aplastic anemia, infections (EBV, CMV), SLE, congenital thrombocytopenia
190
96. What are the indications for platelet transfusion in children?
Indications: Platelets <10,000 (asymptomatic), <20,000 (fever), <50,000 (procedure/bleeding), <100,000 (CNS bleed/surgery)
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61. What are the red flag features in a child with thrombocytopenia?
Red flags: Hepatosplenomegaly, lymphadenopathy, anemia, bone pain, prolonged course
- Suggests leukemia or systemic disease
192
197. What is the difference between absolute and relative polycythemia?
Absolute: Increased RBC mass (e.g., polycythemia vera)
- Relative: Due to plasma loss (e.g., dehydration)
193
144. What is the approach to polycythemia in a child?
Approach: Rule out dehydration, assess oxygenation, check erythropoietin level, evaluate for cyanotic heart disease or tumors
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145. What are the causes of secondary polycythemia in children?
Causes: Chronic hypoxia (cyanotic heart disease, altitude), renal tumors, adrenal tumors, EPO-secreting conditions
195
181. What are the hematologic features of Gaucher disease?
Features: Anemia, thrombocytopenia, hepatosplenomegaly, bone pain
- Due to glucocerebrosidase deficiency
196
178. What are storage diseases with hematologic manifestations?
Examples: Gaucher disease (pancytopenia, hepatosplenomegaly), Niemann-Pick
- Often have cytopenias, bone pain
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187. What are ring sideroblasts and how are they visualized?
Ring sideroblasts: Erythroid precursors with iron-loaded mitochondria around the nucleus
- Seen in marrow with special stain
198
182. How is Gaucher disease diagnosed and treated?
Diagnosis: Enzyme assay, genetic testing
- Treatment: Enzyme replacement therapy (ERT), substrate reduction therapy
199
169. What are the indications for granulocyte transfusion in pediatric hematology?
Indications: Severe neutropenia with life-threatening bacterial/fungal infections unresponsive to antimicrobials
200
168. What are the common blood product transfusion reactions in children?
Reactions: Febrile non-hemolytic, allergic, hemolytic, TRALI, iron overload, GVHD (rare with irradiated units)
