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Pediatric Hematologic Disorders
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Diamond-Blackfan Anemia
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.
Hemophilia
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.
Fanconi Anemia
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.
Neonatal Alloimmune Thrombocytopenia
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.
Sickle Cell Disease
Symptoms: Anemia, pain crises, and increased risk of infection. Treatment: Pain management, hydroxyurea, blood transfusions. Outcomes: Chronic condition with risk of various complications.
Iron Deficiency Anemia
Symptoms: Fatigue, pale skin, and weakness. Treatment: Iron supplements and dietary modifications. Outcomes: Usually good with treatment, but may cause developmental delays if untreated.
Thalassemia
Symptoms: Fatigue, weakness, and growth failure. Treatment: Blood transfusions and chelation therapy. Outcomes: Can be life-threatening; regular treatment required for a better prognosis.
Hereditary Spherocytosis
Symptoms: Hemolytic anemia, jaundice, and splenomegaly. Treatment: Folic acid supplementation, possible splenectomy. Outcomes: Generally good with treatment; may have an increased risk of gallstones.
Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)
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.
Idiopathic Thrombocytopenic Purpura (ITP)
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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