Complications of Sickle Cell SS Disease

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Complications of Sickle Cell (SS) Disease

• Painful crisis
• Hemolytic anemia
• Chest syndrome Pulmonary thromboses or
  infections
• Stroke
• Bone and bone marrow infarct

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Complications of Sickle Cell (SS) Disease

• Folate deficiency
• Aplastic crisis
• Renal papillary necrosis
• Infection (pneumococcal, other)
• Leg ulcer
• Priapism

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Current Therapy for Sickle Cell (SS) Disease

• Symptomatic for painful crises
• Hydroxyurea for painful crises
• Transfusions for severe anemia
• Exchange transfusion for CNS events, chest
  syndrome
• Folate prophylaxis
• Allogeneic marrow transplantation

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Experimental/Future Therapy for Sickle Cell (SS)
Disease

• Other agents increasing fetal hemoglobin
• Anti-sickling drugs
• Globin gene therapy with autotransplantation

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Hemoglobinopathies and Thalassemia

• Hemoglobinopathies Qualitative change Mutation
  in nucleotide sequence of globin chain
• Thalassemias Quantitative change Decreased or
  absent globin chain

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Gg
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Clinical Features of Homozygous b Thalassemia
(Cooley's anemia)

• Severe anemia
• Hepatosplenomegaly
• Bone abnormalities
• Blood transfusion requirement
• Hemochromatosis
• Cardiac failure

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Therapy for Homozygous b Thalassemia

• Current
• Blood transfusions
• Parenteral iron chelators
• Allogeneic bone marrow transplant
• Experimental/Future
• Oral iron chelators
• Agents to increase fetal hemoglobin
• Globin gene therapy with autotransplantation

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a Globin GenesSouthern Blot
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Prevention of Sickle Cell Disease and b
Thalassemia

• Prenatal Screening
• Genetic counseling
• Antenatal diagnosis
• Chorionic villus biopsy
• Amniocentesis