Question

Genetic risk factors associated with hematologic problems. Create a list of genetic predispositions that place a patient at risk for hematologic problems.

Answer 1

Hemolytic anemia:

• Hereditary spherocytosis
• Hereditary elliptocytosis
• Pyruvate kinase enzyme deficiency
• G6PD deficiency
• Thalassemia
• Sickle cell disease- point mutation in gene producing beta globin chain of hemoglobin

Leukemias:

• Identical twins of patient with luekemia
• Down's syndrome

Bleeding disorders:

• Hereditary hemorrhagic telengectasia- mutations in genes encoding endoglin and activin receptor-like kinase.
• Ehler Danlos syndrome- defect in type 3 collagen
• Glanzmann's thrombasthenia
• Congenital macrothrombocytopathies- mutations in myosin heavy chain gene MYH-9

Coagulation disorders:

• X linked - Haemophilia A and B
• Autosomal- Von Willebrand disease, Factor 2, 5, 7, 10, 11, 13 deficiency, Combined 2, 7, 9, 10 deficiency, Hypofibrogenaemia, Dysfibrinogenaemia

Inherited prothrombotic states:

• Antithtombin deficiency
• Protein C, S deficiency
• Factor 5 Laden - gain of function mutation
• Prothrombin G20210A- gain of function mutation