Genomic coordinate (human 11:5,225,464 HBB).
Cytoband (human 11p15.5 HBB).
Here I present: “Sickle Cell Anemia”, Victor McKusick, Mendelian Inheritance in Man’, 1966.
INTRODUCTION
Sickle cell disease is a multisystem disease associated with episodes of acute illness and progressive organ damage. Hemoglobin polymerization, leading to erythrocyte rigidity and vasoocclusion, is central to the pathophysiology of the disease, but the importance of chronic anemia, hemolysis, and vasculopathy has been established. The most common cause of sickle cell anemia is the HbS variant, with hemoglobin SS disease being most prevalent in Africans.
Pathological Breakdown.
Thalassemia results in a pathology of deficiency.
Sickle cell results in a pathology of instability.
Both diseases from gene to phenotype using topology.
