Sickle cell disease is caused by a mutation in which globin chain?
β-globin (HbS)
In the context of hypogonadism, which hormone profile would support a primary gonadal issue?
Low testosterone with high LH and FSH
Hemolytic anemia can be immune or non-immune. Which test helps differentiate immune-mediated hemolysis?
Direct antiglobulin test (DAT)
Which test is commonly used to confirm G6PD deficiency activity in red blood cells?
Enzymatic activity assay for G6PD
What cells are associated with Hereditary elliptocytosis, and spherocytosis?
spherocytes and elliptocytes
In alpha-thalassemia, the severity of disease correlates with:
Number of deleted α-globin genes
In PNH, the pathophysiology involves destruction of RBCs by which system?
Complement-mediated hemolysis
G6PD deficiency is most commonly associated with which type of red cell stress?
Oxidative stress from drugs, foods (fava beans), or infections leading to Heinz body formation
Which lab finding is most consistent with hereditary spherocytosis?
Increased mean corpuscular hemoglobin concentration (MCHC)
What are the arrows pointing to?
Reticulocytes
Aplastic anemia is primarily a problem of:
Bone marrow failure with pancytopenia
Hyperparathyroidism commonly presents with which mnemonic reflecting its clinical spectrum?
Bones, Stones, Groans, Psychiatric overtones
Which lab finding would most support a diagnosis of autoimmune hemolytic anemia (AIHA)?
Positive direct antiglobulin test (DAT) indicating antibodies or complement on red cells
If a patient has macrocytosis with target cells and low beta-globin production, which condition is most likely?
Beta-thalassemia trait or major
This blood smear is associated with what disease?
Sickle Cell
A key diagnostic test for hereditary spherocytosis that demonstrates membrane fragility is the:
Osmotic fragility test
Which laboratory profile would you expect in secondary hypogonadism (pituitary cause)?
Low testosterone with inappropriately low/normal LH and FSH
Which of the following is a hallmark feature of Paroxysmal Nocturnal Hemoglobinuria (PNH)?
Flow cytometry showing decreased CD55 and CD59 on blood cells
Which condition is associated with hemolysis that may be worsened by infections or certain drugs and shows Heinz bodies on smear?
G6PD deficiency
The typical laboratory finding in beta-thalassemia major includes:
Severe microcytic anemia with target cells
Which laboratory test is most useful to distinguish thalassemia from iron-deficiency anemia in a patient with microcytosis?
Hemoglobin A2 and F quantification (often increased in beta-thalassemia)
Primary hyperparathyroidism presents with the mnemonic 'bones, stones, groans, psychiatric overtones.' Which calcium and phosphate pattern is typical?
Hypercalcemia with hypophosphatemia
In sickle cell disease, what is the basic molecular change that leads to sickling under low oxygen conditions?
A single amino acid substitution in the beta-globin chain (Glu to Val) in HbS causing polymerization
Which condition is most commonly inherited in an autosomal dominant pattern and often presents with mild anemia and splenomegaly?
Hereditary elliptocytosis
A patient with hydronic anemia due to a spectrin/ankyrin defect is most likely to have which physical finding?
Splenomegaly