Hematopathology — Flashcards

Flashcard 21: _____ gene mutation present on chromosome 1q is the most common genetic mutation seen in autosomal-recessive hereditary spherocytosis

Answer: Alpha-spectrin

Flashcard 22: _____ gene mutation present on chromosome 8p is the most common genetic mutation seen in autosomal-dominant hereditary spherocytosis

Answer: Ankyrin

Flashcard 23: _____ is caused by an acquired defect in myeloid stem cells, resulting in absent GPI

Answer: Paroxysmal nocturnal hemoglobinuria (PNH)

Flashcard 24: _____ gene mutation present on chromosome 1q21 is the most common genetic mutation seen in autosomal-dominant hereditary elliptocytosis

Answer: α-spectrin

Extra: Hereditary Elliptocytosis (HE) is most commonly caused by mutations in the **α-spectrin** gene (approx. 65% of cases), which is located on chromosome **1q21**. Mutations in **β-spectrin** (located on chromosome **14q**) are the second most common cause (approx. 30%). Deficiency of **Protein 4.1** (EPB41 gene on chromosome 1p) is another, less common cause.

Flashcard 25: Hereditary stomatocytosis is caused by missense mutations in _____ or RhAG

Answer: Band 3

Flashcard 26: Hemoglobin >_____ g/dL or Hematocrit >49% in men + bone marrow showing trilineage (or panmyelosis) growth +JAK2 mutation are major criteria for Polycythemia Vera

Answer: 16.5

Flashcard 27: Hemophilia (A, B, C) presents with _____ PT and increased PTT

Answer: normal

Flashcard 28: In β-thalassemia major, α₄ tetramers result in _____ erythropoiesis and extravascular hemolysis

Answer: ineffective

Flashcard 29: _____ test will help in diagnosis of factor XIII deficiency

Answer: Urea lysis

Flashcard 30: Ataxia-telangiectasia is associated with increased risk of _____ and leukemia

Answer: lymphoma