Inherited Hematologic and Oncologic Syndromes

1. Jonathan Gill, MD 1. Children's Hospital at Montefiore Bronx, NY 1. 1. Strahm B, 2. Malkin D Hereditary Cancer Predisposition in Children: Genetic Basis and Clinical Implications . Strahm B, Malkin D. Int J Cancer. 2006;119:2001–2006 [OpenUrl][1][CrossRef][2][PubMed][3][Web of Science][4] 2. 1. Plon SE, 2. Malkin D 1. Pizzo PA, 2. Poplack DG Childhood Cancer and Heredity . Plon SE, Malkin D . In: Pizzo PA, Poplack DG, eds. Principles and Practice of Pediatric Oncology. 5th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2006:14–37 3. 1. Grace RF, 2. Lux SE 1. Orkin SH, 2. Nathan DG, 3. Ginsburg D, 4. Look AT, 5. Fisher DE, 6. Lux SE Disorders of the Red Cell Membrane . Grace RF, Lux SE . In: Orkin SH, Nathan DG, Ginsburg D, Look AT, Fisher DE, Lux SE, eds. Nathan and Oski's Hematology of Infancy and Childhood. 7th ed. Philadelphia, PA: Saunders Elsevier; 2009:659–838 4. 1. Mentzer WC 1. Orkin SH, 2. Nathan DG, 3. Ginsburg D, 4. Look AT, 5. Fisher DE, 6. Lux SE Pyruvate Kinase Deficiency and Disorders of Glycolysis . Mentzer WC . In: Orkin SH, Nathan DG, Ginsburg D, Look AT, Fisher DE, Lux SE, eds. Nathan and Oski's Hematology of Infancy and Childhood. 7th ed. Philadelphia, PA: Saunders Elsevier; 2009:839–882 5. 1. Luzzatto L, 2. Poggi V 1. Orkin SH, 2. Nathan DG, 3. Ginsburg D, 4. Look AT, 5. Fisher DE, 6. Lux SE Glucose-6-Phosphate Dehydrogenase Deficiency . Luzzatto L, Poggi V . In: Orkin SH, Nathan DG, Ginsburg D, Look AT, Fisher DE, Lux SE, eds. Nathan and Oski's Hematology of Infancy and Childhood. 7th ed. Philadelphia, PA: Saunders Elsevier; 2009:883–910 6. 1. Heeney M, 2. Dover GJ 1. Orkin SH, 2. Nathan DG, 3. Ginsburg D, 4. Look AT, 5. Fisher DE, 6. Lux SE Sickle Cell Disease . Heeney M, Dover GJ . In: Orkin SH, Nathan DG, Ginsburg D, Look AT, Fisher DE, Lux SE, eds. Nathan and Oski's Hematology of Infancy and Childhood. 7th ed. Philadelphia, PA: Saunders Elsevier; 2009:949–1014 7. 1. Cunningham MJ, 2. Sankaran VG, 3. Nathan DG, 4. Orkin SH 1. Orkin SH, 2. Nathan DG, 3. Ginsburg D, 4. Look AT, 5. Fisher DE, 6. Lux SE The Thalassemias . Cunningham MJ, Sankaran VG, Nathan DG, Orkin SH . In: Orkin SH, Nathan DG, Ginsburg D, Look AT, Fisher DE, Lux SE , eds. Nathan and Oski's Hematology of Infancy and Childhood. 7th ed. Philadelphia, PA: Saunders Elsevier; 2009:1015–1108 8. 1. Lambert MP, 2. Poncz M 1. Orkin SH, 2. Nathan DG, 3. Ginsburg D, 4. Look AT, 5. Fisher DE, 6. Lux SE Inherited Platelet Disorders . Lambert MP, Poncz M . In: Orkin SH, Nathan DG, Ginsburg D, Look AT, Fisher DE, Lux SE , eds. Nathan and Oski's Hematology of Infancy and Childhood. 7th ed. Philadelphia, PA: Saunders Elsevier; 2009:1463–1486 9. 1. Montgomery RR, 2. Gill JC, 3. Di Paola J 1. Orkin SH, 2. Nathan DG, 3. Ginsburg D, 4. Look AT, 5. Fisher DE, 6. Lux SE Hemophilia and von Willebrand Disease . Montgomery RR, Gill JC, Di Paola J . In: Orkin SH, Nathan DG, Ginsburg D, Look AT, Fisher DE, Lux SE , eds. Nathan and Oski's Hematology of Infancy and Childhood. 7th ed. Philadelphia, PA: Saunders Elsevier; 2009:1487–1524 10. 1. Bauer KA 1. Orkin SH, 2. Nathan DG, 3. Ginsburg D, 4. Look AT, 5. Fisher DE, 6. Lux SE Inherited Disorders of Thrombosis and Fibrinolysis . Bauer KA . In: Orkin SH, Nathan DG, Ginsburg D, Look AT, Fisher DE, Lux SE, eds. Nathan and Oski's Hematology of Infancy and Childhood. 7th ed. Philadelphia, PA: Saunders Elsevier; 2009:1533–1552 Heritable hematologic disorders are considerably more common than inherited cancer syndromes, ranging from mild conditions marked by laboratory abnormalities to severe and life-threatening diseases. Screening patients who have a positive family history is important to avoid unnecessary interventions, initiate appropriate treatment if necessary, and perhaps most importantly, provide genetic counseling. Hemoglobinopathies include both the formation of mutated hemoglobin and decreased production of the globin chains. Sickle cell disease is an autosomal recessive disorder caused by a mutation in the β-globin chain. During periods of low oxygen tension, the red blood cells (RBCs) are prone to sickling, leading to vasoocclusion. Some of the consequences of vasoocclusive crisis include bone pain, splenic sequestration, acute chest syndrome, and cerebrovascular accidents. Patients have anemia and increased RBC turnover from hemolysis. The long-term complications of the disease reduce the life expectancy of affected individuals to the mid-40s. Sickle cell disease is part of the newborn screen in many states. Hemoglobin C and hemoglobin E are less common hemoglobinopathies that lead to mild anemia in the homozygous individual. Compound heterozygotes, S/C or S/E, have more severe disease, with risk for vasoocclusive crises. Thalassemia does not involve a mutated chain but rather decreased production of a globin chain. Patients who have β-thalassemia trait have decreased production of β-globin chains, leading to a mild microcytic anemia. Different polymorphisms lead to variable production of β-globin. In the most severe form, homozygous patients who have no β-globin production have severe anemia and are transfusion-dependent. Because there are four genes for α-globin production, patients born with α-thalassemia have variable degrees of decreased production of the α-globin chain, depending on how many … [1]: {openurl}?query=rft.jtitle%253DInternational%2Bjournal%2Bof%2Bcancer.%2B%2BJournal%2Binternational%2Bdu%2Bcancer%26rft.stitle%253DInt%2BJ%2BCancer%26rft.aulast%253DStrahm%26rft.auinit1%253DB.%26rft.volume%253D119%26rft.issue%253D9%26rft.spage%253D2001%26rft.epage%253D2006%26rft.atitle%253DHereditary%2Bcancer%2Bpredisposition%2Bin%2Bchildren%253A%2Bgenetic%2Bbasis%2Band%2Bclinical%2Bimplications.%26rft_id%253Dinfo%253Adoi%252F10.1002%252Fijc.21962%26rft_id%253Dinfo%253Apmid%252F16642469%26rft.genre%253Darticle%26rft_val_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Ajournal%26ctx_ver%253DZ39.88-2004%26url_ver%253DZ39.88-2004%26url_ctx_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Actx [2]: /lookup/external-ref?access_num=10.1002/ijc.21962&link_type=DOI [3]: /lookup/external-ref?access_num=16642469&link_type=MED&atom=%2Fpedsinreview%2F32%2F9%2F401.atom [4]: /lookup/external-ref?access_num=000240674000002&link_type=ISI