Pleiotropy in sickle cell disease

The sickling of red blood cells has a range of phenotypic consequences, due primarily to excessive red blood cell destruction and the reduced oxygen-delivery capacity in those with the diseaseThe sickling of red blood cells has a range of phenotypic consequences, due primarily to excessive red blood cell destruction and the reduced oxygen-delivery capacity in those with the disease

M ' . Normal APP-b Sickle cell ' _ 3' ON 5' 3' 3’l—l5' A3'l—I5‘ 5'l_l3’ mRNA 5'l_l3' lml / Protein In; ml Normal hemoglobin Abnormal hemoglobin l Deoxygenation of hemoglobin in tissue _ . 1 (— SIddIngofredbloodmIs —-1 dumping of cells and lnaeased red interference with blood cell blood circulation destruction Accumulation of sickle Local failures in blood supply Anemia cells in spleen Breakdown of Urogenital hemoglobin damage Muscle and joint damage Brain Heart Dilation Bone marrow damageof heart overactivity and increase in amount Accumulation of marrow . . . of bIIIrubIn Enlargement, then fibrosis, damage of spleen ‘ % lschemia, necrosis Bone