Advanced Hematology-Pathology Diagnostic Challenges Quiz

The patient most likely has sickle cell trait(Aa), which causes recurrent microscopic hematuria. A sickle cell screen is required to induce sickling of RBCs containing sickle hemoglobin. This will help confirm the diagnosis and guide further management.

Von Willebrand disease is a common inherited bleeding disorder that primarily affects females and is characterized by prolonged bleeding time. The absence of Factor VIII in this disease can lead to prolonged bleeding times despite normal platelet counts and coagulation parameters. Treatment focuses on managing bleeding symptoms and may involve medications to increase clotting factor levels.

The patient is likely experiencing severe bleeding due to a deficiency in Factor VIII, resulting in an increase in PTT. This condition leads to a lack of thrombin from the Factor VIII deficiency, preventing conversion of fibrinogen to fibrin and causing unstable platelet plugs.

Burkitt lymphoma is commonly associated with a translocation between chromosome 8 and 14 involving the HEAVY chain gene locus. However, in this specific case, the translocation involving the KAPPA LIGHT chain gene locus between chromosome 2 and 8 is more typical. The presence of BCR-ABL fusion gene from translocation between chromosome 9 and 22 is associated with chronic myelogenous leukemia, not Burkitt lymphoma. Trisomy 21, also known as Down syndrome, is a chromosomal disorder unrelated to Burkitt lymphoma.

Warfarin affects vitamin K-dependent factors (2, 7, 9, 10), resulting in increased PT and PTT due to the inhibition of factors 2 and 10. Factor 7, involved in the extrinsic pathway, is also affected by warfarin, leading to PT prolongation. While PT changes are more prominent, PTT is also affected by warfarin.

Von Willebrand disease is characterized by a deficiency in von Willebrand factor which helps platelets adhere to damaged endothelial cells. This results in normal platelet count, increased bleeding time, normal PT, and increased PTT. Contraceptives can alleviate symptoms by increasing factor 8 release.

Increased central pallor of RBCs means the red blood cells have less hemoglobin concentration, leading to a lighter color in the center of the cell.

Ingestion of rat poison containing BRODIFACOUM, a long-acting anticoagulant, will lead to delayed bleeding diathesis similar to WARFARIN overdose due to depletion of vitamin K dependent coagulation factors. Immediate paralysis, rapid gastrointestinal symptoms, and severe dehydration with electrolyte imbalances are not typical presentations in this context.

FFP contains antithrombin 3, which enhances the anticoagulative effects of Heparin by facilitating its ability to inhibit coagulation factors.

Azurophilic granules are found in promyelocytes, which are early precursor cells in hematopoiesis, while specific granules are characteristic of more mature myelocytes.

Lead poisoning leads to the retention of RNA through the inhibition of 5' Nucleotidase activity, resulting in Basophilic stippling.

In B-thalassemia, the most DIRECT mechanism of ineffective hematopoiesis and extravascular hemolysis causing microcytic and hypochromic anemia is the DEATH of RBC PRECURSORS in Bone marrow due to the PRECIPITATION of UNpaired Alpha chains within RBC. This results in no B-chain synthesis and leads to the observed effects.

Spherocytosis is a condition characterized by spherical shaped red blood cells due to defects in RBC cell membrane proteins like ankyrin, spectrin, band 3, and protein 4.2. Mutations in hemoglobin, glycolysis enzymes, or bone marrow stem cells would not directly lead to hyperchromia with decreased central pallor of RBC.

Paris is the capital of France, while London is the capital of the United Kingdom, Berlin is the capital of Germany, and Rome is the capital of Italy.

The correct next step in management for a patient with decreased urine output after surgery and low hematocrit is administration of packed red blood cells to address any ongoing blood loss and improve oxygen-carrying capacity of the blood.

Babies with sickle cell disease are initially protected by the presence of fetal hemoglobin, which reduces the concentration of hemoglobin S and delays the onset of symptoms.

Pathologies that change HEMOGLOBIN content do not directly impact the % saturation of Hemoglobin and proportion of O2 Dissolved oxygen in plasma(PO2). Instead, they influence the Total O2 content in the blood, which decreases in Anemia and increases in Polycythemia.

Carbon monoxide (CO) has a higher affinity to hemoglobin than oxygen, which leads to decreased total O2 content in the blood when someone is affected by CO poisoning.

Nitrites oxidize Fe2 into Fe3+ producing methemoglobinemia, which decreases oxygen carrying capacity, oxygen saturation, and oxygen delivery to tissues.

Cori disease is a type of glycogen storage disease characterized by ABNORMAL Glycogen with VERY SHORT OUTER chain. This abnormal glycogen buildup leads to various health issues in individuals with Cori disease.

Porphyria Cutanea Tarda (PCT) is most commonly caused by an acquired deficiency of uroporphyrinogen decarboxylase, which is essential for the heme biosynthetic pathway. Genetic mutations, excessive vitamin C intake, and heavy metal toxicity can also contribute to the development of PCT but are not the primary cause.

The correct description of the defect in Sickle cell disease involves a specific substitution of amino acids in the primary structure of hemoglobin. This alteration results in the formation of abnormal sickle-shaped red blood cells which can lead to various complications.

The correct answer explains that the patient's symptoms are consistent with Von Willebrand Disease (VWD) and the first-line treatment for VWD induced menorrhagia is combined oral contraceptives. The incorrect answers provide alternative conditions that do not match the patient's presentation.