Clinical features of sickle cell anemia

1 As a result of the mutations, the form and function of the hemoglobin molecule change, causing red blood cells to take on a sickle shape. 2 SCD manifests in a variety of ways, from acute generalized discomfort to the early onset of stroke, leg ulcers, and fatal multiorgan failure. Because of the presence of the fetal form of hemoglobin, HbF, the clinical features of SCD do not appear until the second half of the first year of postnatal life, when the transition to adult hemoglobin takes place. 3 In general, the clinical features associated with sickle cell disease can be divided into 2 types, depending on the underlying cause. Clinical features of the first type are those caused by hemolysis and functional nitric oxide deficiency, which lead to large-vessel vasculopathy manifesting as cerebrovascular disorders, pulmonary hypertension, priapism, nephropathy, and leg ulcers. Clinical features of the second type are those due to vaso-occlusion, which results in ischemic painful episodes and progressive organ damage potentially manifesting as osteonecrosis, hyposplenism, retinopathy, and liver damage.​​ 4 Acute Clinical Features Vaso-occlusive Crisis Vaso-occlusive crisis is the most common presentation of SCD. Blockage of the post-capillary venules causes ischemia, with consequent ischemia-reperfusion injury and acute episodes of painful sickle cell crisis. Patients report excruciating pain in all parts of the body, especially the back, long bones, chest, pelvis, and abdome...

CLINICAL CONDITIONS • General • • • Microcytic Anemias (MCV 100) • • • • • Normocytic - Intrinsic Hemolytic • • • • • • • Normocytic - Extrinsic Hemolytic • • • • • • • Normocytic Anemias - Hypoproliferative • • • • • Coagulation disorders • • • • • Platelet Disorders • • • • • • • Mixed Platelet/Coagulation Disorders • • • • Hypercoagulable States • • • • • Cancer (see Oncology) • Heme disorders • • • • A 4-year-old African American boy presents to the emergency room for sudden onset severe abdominal pain. He has a history of sickle cell anemia. On physical exam, he is pale, and he has a left upper quadrant palpable mass. Complete blood count is significant for hemoglobin of 7.3 g/dL. Serum unconjugated bilirubin and reticulocyte count are elevated. (Acute splenic sequestration) •