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    What Is A "Sickle

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    Elsa Fitriani
    Sickle cell anemia is a genetic blood disorder where red blood cells take on a sickle, or crescent, shape instead of the normal disc shape. These rigid, sickle-shaped cells have a shorter lifespan and can block blood vessels. The disease is caused by a mutation in the beta-globin gene that produces abnormal hemoglobin S. Diagnosis is made through blood tests like hemoglobin electrophoresis and peripheral blood smears. Common symptoms include recurrent pain crises when sickled cells block blood vessels.

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    What Is A "Sickle

    Uploaded by

    Elsa Fitriani
    12 views11 pages
    Sickle cell anemia is a genetic blood disorder where red blood cells take on a sickle, or crescent, shape instead of the normal disc shape. These rigid, sickle-shaped cells have a shorter lifespan and can block blood vessels. The disease is caused by a mutation in the beta-globin gene that produces abnormal hemoglobin S. Diagnosis is made through blood tests like hemoglobin electrophoresis and peripheral blood smears. Common symptoms include recurrent pain crises when sickled cells block blood vessels.

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    SCD

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    Sickle cell anemia is a genetic blood disorder where red blood cells take on a sickle, or crescent, shape instead of the normal disc shape. These rigid, sickle-shaped cells have a shorter lifespan and can block blood vessels. The disease is caused by a mutation in the beta-globin gene that produces abnormal hemoglobin S. Diagnosis is made through blood tests like hemoglobin electrophoresis and peripheral blood smears. Common symptoms include recurrent pain crises when sickled cells block blood vessels.

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    12 views11 pages

    What Is A "Sickle

    Uploaded by

    Elsa Fitriani
    Sickle cell anemia is a genetic blood disorder where red blood cells take on a sickle, or crescent, shape instead of the normal disc shape. These rigid, sickle-shaped cells have a shorter lifespan and can block blood vessels. The disease is caused by a mutation in the beta-globin gene that produces abnormal hemoglobin S. Diagnosis is made through blood tests like hemoglobin electrophoresis and peripheral blood smears. Common symptoms include recurrent pain crises when sickled cells block blood vessels.

    Copyright:

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    of 11

    What is a “SickleSICKLE CELL

    ANEMIA”?
    Normal vs Sickle Red Cells Sickle
    Normal
     Disc-Shaped  Sickle-Shaped
     Deformable  Rigid
     Life span of 120 days  Lives for 20 days or less
    Sickle Cell disease
    Hemoglobin Genes and Products

     Hemoglobin is a tetramer of the product of 2 genes, 𝞪 globulin and non-𝞪 globulin


     There is 2 identical 𝞪 genes on Chr 16p
     𝞫, 𝞭, 𝞬 genes are on chr 11p

    Hemoglobin Genotype Amount


    Hb A α2β2 96%
    Hb A2 α2δ2 3%
    Hb F α2γ2 1%
    Sickle Cell disease
    Sickle cell trait

     Asymptomatic
     Microscopic or gross hematuria (1-4%)
     Recurrent
     Persistent
     Iron deficiency, renal obstruction, infection.
     Medullary carcinoma of the kidney is more common in patients with SC.
     Nephrectomy to control bleeding is almost never indicated because of the high probability of
    recurrence in the contralateral kidney.
     With extreme exercise, hypoxia and dehydration, complications like splenic infarction and pain
    episodes may occur
     Oxygenated state  Deoxygenated state
     Hemoglobin Electrophoresis

    Diagnosis

     Peripheral blood smear


    Vaso-occlusive Pain crisis

    • Early Signs
    • Fever
    • Tachycardia
    • Pallor

    • Late Signs
    • Pain in extremities
    • Back Pain
    • Abdominal Pain

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