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Questions and Answers
Which of the following is NOT an indication for bone marrow aspiration?
Which of the following is NOT an indication for bone marrow aspiration?
Bone marrow aspiration is contraindicated in patients with hemophilia.
Bone marrow aspiration is contraindicated in patients with hemophilia.
True
Name one complication associated with bone marrow aspiration.
Name one complication associated with bone marrow aspiration.
Local infection
Bone marrow can be obtained via aspiration and ________ biopsy.
Bone marrow can be obtained via aspiration and ________ biopsy.
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Match the following sites to their related characteristics for bone marrow aspiration:
Match the following sites to their related characteristics for bone marrow aspiration:
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Which of the following is an example of a qualitative defect in hemoglobin?
Which of the following is an example of a qualitative defect in hemoglobin?
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All hemoglobinopathies are inherited conditions.
All hemoglobinopathies are inherited conditions.
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Name one treatment option for a painful crisis in sickle cell anemia.
Name one treatment option for a painful crisis in sickle cell anemia.
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Thalassemias are characterized by a __________ defect in hemoglobins.
Thalassemias are characterized by a __________ defect in hemoglobins.
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Match the following types of hemoglobin defects with their examples:
Match the following types of hemoglobin defects with their examples:
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What is a common hemoglobin level range in patients with β-Thalassemia Intermedia?
What is a common hemoglobin level range in patients with β-Thalassemia Intermedia?
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Patients with β-Thalassemia Intermedia are dependent on transfusions.
Patients with β-Thalassemia Intermedia are dependent on transfusions.
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Name one potential complication that may be present in patients with β-Thalassemia Intermedia.
Name one potential complication that may be present in patients with β-Thalassemia Intermedia.
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Patients with β-Thalassemia Intermedia should receive __________ supplementation.
Patients with β-Thalassemia Intermedia should receive __________ supplementation.
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Match the following findings with their relevance in β-Thalassemia Intermedia:
Match the following findings with their relevance in β-Thalassemia Intermedia:
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What is the primary goal of remission induction therapy for Acute Lymphoblastic Leukemia (ALL)?
What is the primary goal of remission induction therapy for Acute Lymphoblastic Leukemia (ALL)?
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Post-remission therapy is designed to increase the chances of relapse in patients with ALL.
Post-remission therapy is designed to increase the chances of relapse in patients with ALL.
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Name one type of medication used in the remission maintenance phase.
Name one type of medication used in the remission maintenance phase.
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The __________ chemotherapy method includes cytarabine, methotrexate, and hydrocortisone for CNS preventive therapy.
The __________ chemotherapy method includes cytarabine, methotrexate, and hydrocortisone for CNS preventive therapy.
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Which type of ALL is treated with tyrosine kinase inhibitors (TKIs)?
Which type of ALL is treated with tyrosine kinase inhibitors (TKIs)?
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Match the following treatments with their respective therapy type:
Match the following treatments with their respective therapy type:
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What is the purpose of CNS preventive therapy in the treatment of ALL?
What is the purpose of CNS preventive therapy in the treatment of ALL?
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Administration of drugs for a duration of two years or more is part of the remission maintenance strategy.
Administration of drugs for a duration of two years or more is part of the remission maintenance strategy.
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What is a characteristic X-ray finding in beta-thalassemia major?
What is a characteristic X-ray finding in beta-thalassemia major?
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Beta-thalassemia minor typically presents with severe anemia.
Beta-thalassemia minor typically presents with severe anemia.
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What is the primary cause of anemia in beta-thalassemia major?
What is the primary cause of anemia in beta-thalassemia major?
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In beta-thalassemia major, severe anemia usually develops within ___ months of life.
In beta-thalassemia major, severe anemia usually develops within ___ months of life.
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Match the following complications of beta-thalassemia major with their descriptions:
Match the following complications of beta-thalassemia major with their descriptions:
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What treatment may be considered for children with symptomatic splenomegaly?
What treatment may be considered for children with symptomatic splenomegaly?
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Prenatal diagnosis of beta-thalassemia is not possible until at least the 20th week of gestation.
Prenatal diagnosis of beta-thalassemia is not possible until at least the 20th week of gestation.
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Name one hemoglobin abnormality associated with beta-thalassemia.
Name one hemoglobin abnormality associated with beta-thalassemia.
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Patients with beta-thalassemia major may experience ___ due to increased intestinal iron absorption.
Patients with beta-thalassemia major may experience ___ due to increased intestinal iron absorption.
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Which of the following is a sign of beta-thalassemia major?
Which of the following is a sign of beta-thalassemia major?
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Study Notes
β-Thalassemia Intermedia
- A clinical presentation between thalassemia trait and major
- Mild to moderate anemia (Hb 7-9 g/dL)
- Not transfusion dependent
- May present with mild splenomegaly, bone deformities, gallstones, and chronic leg ulcers
- Folic acid supplementation is necessary
Classification of Hemoglobin Defects
- Qualitative defect in (structurally abnormal) hemoglobins: Hemoglobin S, Hemoglobin C, Hemoglobin D Punjab
- Quantitative defect in hemoglobins: Thalassemias (α, β-thalassemia)
- Combined qualitative and quantitative defects in hemoglobins: Hemoglobin E, Sickle-cell β-thalassemia
- Acquired hemoglobinopathies: Methemoglobinemia due to toxic exposures, Carboxyhemoglobinemia
Bone Marrow Aspiration
- Essential for hematologic and non-hematologic disorder diagnosis
- Performed via aspiration or trephine biopsy
- Aspirations are simpler and safer
- Trephine biopsy is used when aspiration fails or for diseases where biopsy findings are diagnostic.
Bone Marrow Aspiration - Indications
- Hematologic Disorders:
- Red cell disorders: nutritional anemia
- White cell disorders
- Megakaryocytic disorders
- Myeloproliferative neoplasms
- Myelodysplastic syndromes
- Plasma cell neoplasms
- Systemic Diseases: Storage disorders
- Staging of Lymphoid Malignancies/Solid Tumors: Lymphoma, carcinoma
- Detection of Infection, Parasitic and Fungal Disorders: Mycobacterial infection, iron storage
- Post-treatment Follow-up: Monitoring response to therapy in leukemia, aplastic anemia, and agranulocytosis
- Therapeutic: Bone marrow transplant
Bone Marrow Aspiration - Sites
- Sternum
- Posterior superior iliac spine
- Iliac crest
- Anterior superior iliac spine
- Spinous process of lumbar vertebra
- Upper end of the tibia (infants)
Bone Marrow Aspiration - Complications
- Local infection
- Hemorrhage
- Cardiac tamponade or mediastinitis
Bone Marrow Aspiration - Contraindications
- Hemophilia
- Congenital hemorrhagic disorders
Acute Lymphoblastic Leukemia - Principles of Management
- A type of cancer affecting the blood and bone marrow
Acute Lymphoblastic Leukemia - Treatment Principles
- Remission Induction:
- Achieve complete morphological response (less than 5% blasts) with combination chemotherapy
- Aim for remission within 4-6 weeks
- CNS Preventive Therapy:
- Eliminate CNS disease and reduce minimal residual leukemic burden
- High-dose systemic therapy and CNS-directed treatment (triple intrathecal chemotherapy or cranial radiation)
- Post-remission Therapy:
- Similar to induction phase
- Remission Maintenance:
- Prevent relapse
- Long-term drug administration: daily 6-mercaptopurine, weekly methotrexate
Acute Lymphoblastic Leukemia - Treatment Regimens
-
Induction Therapy:
- t(9;22)/BCR-ABL1 negative ALL: Weekly vincristine, daily corticosteroids, and asparaginase
- t(9;22)/BCR-ABL1 positive ALL: Tyrosine kinase inhibitors (TKIs)
- Trisomy 21: High-dose methotrexate
- CNS Preventive Therapy: Triple intrathecal chemotherapy or cranial radiation
- Post-remission Therapy: Consolidation with various drugs
- Maintenance Therapy: Daily oral 6-mercaptopurine, weekly methotrexate, periodic vincristine, prednisone, and intrathecal therapy
Beta-Thalassemia - Diagnostic Features and Treatment
Beta-Thalassemia Major
- Homozygous form of beta-thalassemia, characterized by absent or reduced beta-chain synthesis
- Prevalent in Mediterranean countries, parts of Africa, Southeast Asia, and certain communities in North India
- Anemia is caused by diminished HbA synthesis, ineffective erythropoiesis, and extravascular hemolysis
- Ineffective erythropoiesis: Marked erythroid hyperplasia, severe hemolytic anemia (stimulates EPO production), marrow erythroid hyperplasia, thalassemic facies, and hair on end appearance on skull X-rays
Beta-Thalassemia Major - Clinical Features
- Severe anemia from infancy
- Growth retardation
- Bone changes (expansion, widening)
- Characteristic X-ray changes
- "Chipmunk" facies
- Hair on end ('crew-cut') appearance
- Splenomegaly (up to 1,500 g)
- Hepatomegaly and Lymphadenopathy
- Hemosiderosis: Iron overload due to blood transfusions
- Cardiac hemosiderosis: Arrhythmias, heart blocks, and congestive heart failure
- Hepatic hemosiderosis: Cirrhosis
- Pancreatic hemosiderosis: Diabetes
- Pituitary: Hypogonadotropic hypogonadism
Beta-Thalassemia Major - Investigations
- Peripheral smear: Microcytic hypochromic anemia, anisocytosis, poikilocytosis, target cells, and nucleated red blood cells
- Elevated HbF: 30-92% on hemoglobin electrophoresis
- Decreased HbA: Markedly reduced or absent hemoglobin A (HbA)
- Osmotic fragility test: Increased resistance to hemolysis
- Skull radiograph: "Hair on end" or crew-cut appearance
- Evidence of thalassemia minor in both parents
Beta-Thalassemia Major - Management
- Suppress ineffective erythropoiesis, prevent bone deformities, and support normal development
- Blood transfusions: Every 4-6 weeks to maintain Hb between 10-12 g/dL
- Iron chelation: Desferrioxamine (parenteral) for serum ferritin >1500 µg/L
- Splenectomy: Symptomatic splenomegaly
- Bone marrow transplantation: Considered in young patients
- Management of complications (e.g., congestive heart failure, endocrinopathies)
Beta-Thalassemia Minor (Trait)
- More common than beta-thalassemia major
- Heterozygous state, usually asymptomatic
- Mild or absent anemia
- Peripheral blood smear: Severe microcytic and hypochromic red blood cells with target cells
- Normal serum ferritin and iron stores
- Hb electrophoresis: Raised HbA2 (3.5-7.5%) and sometimes raised HbF
- Iron deficiency should not be given unless also associated with iron deficiency
- Genetic counseling to prevent carrier transmission
Prenatal Diagnosis
- Possible by chorionic villus biopsy at 11 weeks
Other Hemoglobin Abnormalities
- Beta-thalassemia can be associated with other hemoglobin abnormalities such as HbS/beta-thalassemia, HbC/beta-thalassemia, and HbE/beta-thalassemia.
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Description
Hematology Explore the clinical presentations of β-thalassemia intermedia and its management. This quiz also covers the classifications of hemoglobin defects and the role of bone marrow aspiration in diagnosis. Test your knowledge on these critical topics in hematology.
