BLOOD DISORDERS 1.2 (AB)

Question 1

What is the inheritance pattern of Hereditary Spherocytosis?

Answer 1

Autosomal dominant (70-80% of cases).

Question 2

What are the common signs and symptoms of Hereditary Spherocytosis?

Answer 2

Asymptomatic to severe anemia, jaundice, marked splenomegaly, and gallstones.

Question 3

How is Hereditary Spherocytosis diagnosed?

Answer 3

Clinical and family history, microspherocytes on peripheral blood smear, and Osmotic Fragility Test.

Question 4

What does the Osmotic Fragility Test (OFT) assess?

Answer 4

It assesses RBC membrane integrity and resistance to hemolysis in varying saline concentrations.

Question 5

What are the treatment options for Hereditary Spherocytosis?

Answer 5

Packed RBC, folic acid, and splenectomy (if >7 years old).

Question 6

What causes Hemoglobinopathies?

Answer 6

Genetic defects that lead to abnormal globin chain structures.

Question 7

What is the normal structure of hemoglobin chains?

Answer 7

Two alpha and two beta globin chains.

Question 8

Name two examples of structural hemoglobinopathies.

Answer 8

Sickle cell disease and Hemoglobin E.

Question 9

What causes Thalassemias?

Answer 9

Genetic defects causing decreased production of hemoglobin chains and ineffective erythropoiesis.

Question 10

What diagnostic advancement helps detect Thalassemias early?

Answer 10

Expanded newborn screening.

Question 11

What happens in Alpha Thalassemia?

Answer 11

One or more of the four alpha globin genes are non-functional.

Question 12

What are the types of Alpha Thalassemia?

Answer 12

Silent carrier (1 gene loss), Trait (2 gene loss), HbH disease (3 gene loss), Hydrops fetalis (4 gene loss).

Question 13

What is the clinical impact of 3-gene deletion in Alpha Thalassemia?

Answer 13

Moderate to severe anemia, may need transfusions.

Question 14

What is the clinical significance of 4-gene deletion in Alpha Thalassemia?

Answer 14

Hydrops fetalis – incompatible with life.

Question 15

What causes Beta Thalassemia?

Answer 15

Suboptimal beta globin chain production due to gene mutations.

Question 16

What are the two variants of Beta Thalassemia?

Answer 16

1 gene defect – mild anemia; 2 gene defect – severe thalassemia.

Question 17

What are the three clinical types of Beta Thalassemia?

Answer 17

Trait/Minor, Intermedia, and Major (Cooley’s anemia).

Question 18

Which type of Beta Thalassemia requires regular transfusions?

Answer 18

Thalassemia major or Cooley’s anemia.

Question 19

What lab findings are associated with Thalassemia?

Answer 19

Hypochromia, microcytosis, fragmented and target cells, increased serum iron and ferritin.

Question 20

Which test determines Beta Thalassemia?

Answer 20

Hemoglobin electrophoresis.

Question 21

Which test determines Alpha Thalassemia?

Answer 21

DNA analysis.

Question 22

Why must RBC transfusions in Thalassemia be done cautiously?

Answer 22

To avoid iron overload.

Question 23

What is Desferoxamine?

Answer 23

An iron chelator that removes excess iron to prevent organ damage.

Question 24

Is folic acid with iron supplementation safe in Thalassemia?

Answer 24

Yes, iron content is low and IDA risk remains.

Question 25

Why are breastfed infants at risk of IDA?

Answer 25

Breast milk has low iron; supplementation needed by 6 months (or as early as 4 months).

Question 26

What are the 4 core steps of Essential Intrapartum and Newborn Care (EINC)?

Answer 26

1. Immediate drying, 2. Skin-to-skin contact, 3. Proper cord clamping, 4. No separation and early breastfeeding.

Question 27

Why is properly timed cord clamping important?

Answer 27

It ensures adequate iron transfer from mother to infant.

Question 28

Why is umbilical milking no longer done?

Answer 28

Due to updated EINC practices – waiting for pulsation before cutting the cord.

Question 29

What are other treatment options for severe Thalassemia like Cooley’s anemia?

Answer 29

Splenectomy and bone marrow transplantation (if donor available).

Question 30

What causes autoimmune hemolytic anemia?

Answer 30

Hemolysis due to antierythrocyte autoantibodies.

Question 31

Is autoimmune hemolytic anemia more common in adults or children?

Answer 31

More common in adults.

Question 32

What is the clinical presentation of autoimmune hemolytic anemia?

Answer 32

Pallor. occasional jaundice and highly colored urine (hemoglobinuria).

Question 33

Why is urinalysis requested in suspected autoimmune hemolytic anemia?

Answer 33

To detect hemoglobinuria.

Question 34

What are lab findings in autoimmune hemolytic anemia?

Answer 34

Anemia with reticulocytosis. fragmented cells. numerous microspherocytesand indirect hyperbilirubinemia.

Question 35

What is the confirmatory test for autoimmune hemolytic anemia?

Answer 35

Antiglobulin or Coombs test.

Question 36

What is the treatment for autoimmune hemolytic anemia?

Answer 36

Avoid transfusion

Question 37

What causes hemolytic disease of the newborn?

Answer 37

Sensitization of fetal red cell antigen to maternal antibodies.

Question 38

What are the three types of hemolytic disease of the newborn?

Answer 38

Rh. ABO. and other red cell antigens like Kell group.

Question 39

What antigen is most important in Rh hemolytic disease?

Answer 39

D antigen.

Question 40

Why is the second child more likely to have Rh incompatibility?

Answer 40

IgG antibodies produced in subsequent pregnancies cross the placenta.

Question 41

What does fetal anemia from Rh incompatibility cause?

Answer 41

Extensive hemopoiesis and erythropoiesis in liver and spleen. leading to portal hypertension.

Question 42

What is hydrops fetalis?

Answer 42

Generalized edema from ascites and hypoproteinemia.

Question 43

Which mothers are at risk for ABO hemolytic disease?

Answer 43

O blood type mothers with A or B type babies.

Question 44

Why is blood typing of parents important in newborn anemia?

Answer 44

To anticipate ABO incompatibility.

Question 45

What are clinical features of hemolytic disease of the newborn?

Answer 45

Anemia. jaundice. hepatosplenomegaly.

Question 46

What are lab tests for hemolytic disease of the newborn?

Answer 46

CBC. ABO typing. total bilirubin

Question 47

What is the treatment for jaundice in hemolytic disease of the newborn?

Answer 47

Phototherapy.

Question 48

What is the treatment for high bilirubin levels in newborns?

Answer 48

Exchange transfusion.

Question 49

What is aplastic anemia?

Answer 49

Bone marrow failure with peripheral pancytopenia and mild macrocytosis.

Question 50

What are acquired causes of aplastic anemia?

Answer 50

Drugs. toxins. viruses. pregnancy. autoimmune. idiopathic. PNH.

Question 51

What are hereditary causes of aplastic anemia?

Answer 51

Fanconi anemia

Question 52

What is the hallmark lab finding in aplastic anemia?

Answer 52

Pancytopenia with hypocellular bone marrow.

Question 53

What is seen in bone marrow aspirate in aplastic anemia?

Answer 53

Increased fatty spaces and stromal cells

Question 54

Why is HLA typing done in aplastic anemia?

Answer 54

For potential bone marrow transplant.

Question 55

What guides treatment in aplastic anemia?

Answer 55

Severity of disease and patient age.

Question 56

What are criteria for mild aplastic anemia?

Answer 56

Hypocellular marrow. retic <3%. WBC 0.5-1.5. platelets 20-50k.

Question 57

What are criteria for moderate aplastic anemia?

Answer 57

<25% cellularity. retic <1%. WBC 0.2-0.5. platelets <20k.

Question 58

What are criteria for severe aplastic anemia?

Answer 58

<25% cellularity. retic <1%. WBC <0.2. platelets <20k.

Question 59

What is acute lymphoblastic leukemia?

Answer 59

Malignancy of B or T lymphoblasts with marrow and lymphoid infiltration.

Question 60

How might ALL present?

Answer 60

Asymptomatic child or one with bleeding. infection or respiratory distress.

Question 61

What are common symptoms of ALL?

Answer 61

Fever. pallor

Question 62

What signs suggest leukemia in ALL?

Answer 62

Hepatosplenomegaly. lymphadenopathy.

Question 63

What are blood findings in ALL?

Answer 63

Anemia. abnormal leukocytes. thrombocytopenia.

Question 64

What does a peripheral smear show in ALL?

Answer 64

Normochromic. normocytic RBCs. low retic count. tear drop cells.

Question 65

What confirms ALL diagnosis in bone marrow?

Answer 65

More than 25% blasts.

Question 66

What is the prognosis for ALL?

Answer 66

95% remission

Question 67

What differentiates ITP from ALL?

Answer 67

Acute petechiae. isolated thrombocytopenia. large platelets on smear.

Question 68

What lab finding suggests aplastic anemia?

Answer 68

Pancytopenia with normal/increased megakaryocytes on BMA.

Question 69

What other conditions mimic leukemia?

Answer 69

Myelodysplasia. myeloproliferative disorders. JRA. infections.

Question 70

What cells are seen in infectious mononucleosis?

Answer 70

Downey cells.

Question 71

How is neuroblastoma diagnosed?

Answer 71

Bone marrow aspirate and urinary catecholamines.

Question 72

What are major prognostic factors in ALL?

Answer 72

Age. WBC count. immunophenotype. genetics. CNS status. MRD.

Question 73

What gender has worse prognosis in ALL?

Answer 73

Males.

Question 74

What racial groups have lower event-free survival in ALL?

Answer 74

African-American and Hispanic.

Question 75

How do genetics affect ALL prognosis?

Answer 75

Polymorphisms in chemotherapy drug metabolism genes.

Question 76

What are presenting symptoms of AML?

Answer 76

Fever. fatigue. pallor. bleeding. bone pain. infection.

Question 77

What lab abnormalities are seen in AML?

Answer 77

Anemia. thrombocytopenia. neutropenia.

Question 78

What is the goal of AML treatment?

Answer 78

Eradicate disease while limiting toxicity.

Question 79

What are main AML treatment components?

Answer 79

Supportive care. remission induction. consolidation chemotherapy.

Question 80

What should be suspected in a 2-week-old baby with bleeding from the umbilical stump?

Answer 80

Vitamin K deficiency.