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Pediatric Hematologic Disorders

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Diamond-Blackfan Anemia

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Symptoms: Macrocytic anemia, craniofacial anomalies, and short stature. Treatment: Corticosteroids, blood transfusions, and bone marrow transplant. Outcomes: Chronic; may have complications but can have a normal life span with treatment.

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Hemophilia

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Symptoms: Prolonged bleeding, easy bruising, joint pain and swelling. Treatment: Clotting factor replacement therapy. Outcomes: Can manage symptoms with treatment; risk for joint damage over time.

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Fanconi Anemia

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Symptoms: Bone marrow failure, physical anomalies, and developmental delays. Treatment: Bone marrow transplantation, growth factors, androgen therapy. Outcomes: Progressive and life-threatening; early treatment can improve quality of life.

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Neonatal Alloimmune Thrombocytopenia

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Symptoms: Petechiae, purpura, and bleeding in the newborn. Treatment: IVIG, platelet transfusion from antigen-negative donor. Outcomes: Good with prompt treatment, but at risk for intracranial hemorrhage if not treated.

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Sickle Cell Disease

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Symptoms: Anemia, pain crises, and increased risk of infection. Treatment: Pain management, hydroxyurea, blood transfusions. Outcomes: Chronic condition with risk of various complications.

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Iron Deficiency Anemia

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Symptoms: Fatigue, pale skin, and weakness. Treatment: Iron supplements and dietary modifications. Outcomes: Usually good with treatment, but may cause developmental delays if untreated.

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Thalassemia

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Symptoms: Fatigue, weakness, and growth failure. Treatment: Blood transfusions and chelation therapy. Outcomes: Can be life-threatening; regular treatment required for a better prognosis.

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Hereditary Spherocytosis

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Symptoms: Hemolytic anemia, jaundice, and splenomegaly. Treatment: Folic acid supplementation, possible splenectomy. Outcomes: Generally good with treatment; may have an increased risk of gallstones.

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Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)

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Symptoms: Neonatal jaundice, acute hemolytic anemia triggered by certain medications or foods. Treatment: Avoidance of triggering substances, supportive care during episodes. Outcomes: Generally good with avoidance of triggers; can live a normal life span.

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Idiopathic Thrombocytopenic Purpura (ITP)

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Symptoms: Easy bruising, bleeding gums, and petechiae. Treatment: Corticosteroids, IVIG, and platelet transfusions. Outcomes: Often good in children, can resolve spontaneously.

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