Trastornos congénitos de los glóbulos rojos

1. Kalteren WS, Verhagen EA, Mintzer JP, Bos AF, Kooi EMW. Anemia and red blood cell transfusions, cerebral oxygenation, brain injury and development, and neurodevelopmental outcome in preterm infants: a systematic review. Front Pediatr. 2021; 9:644462

2. Bain A, Blackburn S. Issues in transfusing preterm infants in the NICU. J Perinat Neonatal Nurs. 2004;18(2):170–184

3. Aher S, Malwatkar K, Kadam S. Neonatal anemia. Semin Fetal Neonatal Med. 2008;13(4):239–247

4. Letterio J, Pateva I, Petrosiute A, Ahuja S. Hematologic and oncologic problems in the fetus and neonate. In: Martin RJ, Fanaroff AA, Walsh MC. Fanaroff and Martin’s Neonatal-Perinatal Medicine, 2-Volume Set: Diseases of the Fetus and Infant. 11th ed. Philadelphia, PA: Elsevier; 2019:1416–1503

5. Palis J. Primitive and definitive erythropoiesis in mammals. Front Physiol. 2014; 5:3

6. Otto CN. Hemoglobin metabolism. In: Keohane EM, Otto CN, Walenga JM, eds. Rodak’s Hematology: Clinical Principles and Applications. 6th ed. Philadelphia, PA: Elsevier; 2020: 91–103

7. Farid Y, Bowman NS, Lecat P. Biochemistry, hemoglobin synthesis. In: StatPearls. Treasure Island, FL: Stat Pearls Publishing; 2022.

Available at: https://www.ncbi.nlm.nih.gov/books/NBK536912/Accessed September 11, 2022

8. Butina M. Erythrocyte production and destruction. In: Keohane EM, Otto CN, Walenga JM, eds. Rodak’s Hematology: Clinical Principles and Applications. 6th ed. Philadelphia, PA: Elsevier; 2020:62–77

9. Auerbach AD. Fanconi anemia and its diagnosis. Mutat Res. 2009;668(1-2):4–10

10. Elghetany MT, Punia JN, Marcogliese AN. Inherited bone marrow failure syndromes. Clin Lab Med. 2021;41(3):417–431

11. Lo C, Glader B, Sakamoto KM. Bone marrow failure. In: Keohane EM, Otto CN, Walenga JM, eds. Rodak’s Hematology: Clinical Principles and Applications. 6th ed. Philadelphia, PA: Elsevier; 2020:299–315

12. Kim HY, Kim HJ, Kim SH. Genetics and genomics of bone marrow failure syndrome. Blood Res. 2022;57(S1): S86–S92

13. Shwachman H, Diamond LK, Oski FA, Khaw KT. The syndrome of pancreatic insufficiency and bone marrow dysfunction. J Pediatr. 1964; 65:645–663

14. OMIM. # 260400: Shwachman-Diamond syndrome 1; SDS1. 2022. Available at: https://www.omim.org/entry/260400. Accessed September 11, 2022

15. OMIM. # 617941: Shwachman-Diamond syndrome 2; SDS2. 2022. Available at: https://www.omim.org/entry/617941. Accessed September 11, 2022

16. Bezzerri V, Cipolli M. Shwachman-diamond syndrome: molecular mechanisms and current perspectives. Mol Diagn Ther. 2019;23(2): 281–290

17. Nelson AS, Myers KC. Diagnosis, treatment, and molecular pathology of Shwachman-Diamond syndrome. Hematol Oncol Clin North Am. 2018;32(4):687–700

18. Nelson A, Myers K. Shwachman-Diamond syndrome. In: Adam MP, Mirzaa GM, Pagon RA, et al, eds. Gene Reviews VR. University of Washington, Seattle; 1993. Available at: https://www.ncbi.nlm.

nih.gov/books/NBK1756/. Accessed September 11, 2022

19. Saito-Benz M, Miller HE, Berry MJ. Shwachman-Diamond syndrome (SDS) in a preterm neonate. J Paediatr Child Health. 2015;51(12):1228–1231

20. Black LV, Soltau T, Kelly DR, Berkow RL. Shwachman-Diamond syndrome presenting in a premature infant as pancytopenia. Pediatr Blood Cancer. 2008;51(1):123–124

21. Todorovic-Guid M, Krajnc O, Marcun Varda N, et al. A case of Shwachman-Diamond syndrome in a male neonate. Acta Paediatr. 2006;95(7):892–893

22. Burroughs L, Woolfrey A, Shimamura A. Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. Hematol Oncol Clin North Am. 2009;23(2):233–248

23. Cipolli M, Tridello G, Micheletto A, et al. Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0-8 years old. BMJ Open. 2019;9(1): e022617

24. Toriello HV. Thrombocytopenia absent radius syndrome. In: Adam MP, Mirzaa GM, Pagon RA, et al., eds. Gene Reviews VR. University of Washington, Seattle; 1993. Available at: https://www.

ncbi.nlm.nih.gov/books/NBK23758/. Accessed September 11, 2022

25. OMIM. # 274000: Thrombocytopenia-absent radius syndrome; TAR. 2022. Available at: https://www.omim.org/entry/274000. Accessed September 11, 2022

26. Khincha PP, Savage SA. Neonatal manifestations of inherited bone marrow failure syndromes. Semin Fetal Neonatal Med. 2016; 21(1):57–65

27. Walne AJ, Dokal I. Advances in the understanding of dyskeratosis congenita. Br J Haematol. 2009;145(2):164–172

28. Keohane EM. Thalassemias. In: Keohane EM, Otto CN, Walenga JM, eds. Rodak’s Hematology: Clinical Principles and Applications. 6th ed. Philadelphia, PA: Elsevier; 2020:424–444

29. Ali S, Mumtaz S, Shakir HA, et al. Current status of beta thalassemia and its treatment strategies. Mol Genet Genomic Med. 2021;9(12)

30. Farashi S, Harteveld CL. Molecular basis of a-thalassemia. Blood Cells Mol Dis. 2018; 70:43–53

31. Forget BG, Bunn HF. Classification of the disorders of hemoglobin. Cold Spring Harb Perspect Med. 2013;3(2): a011684–a011684

32. Thom CS, Dickson CF, Gell DA, Weiss MJ. Hemoglobin variants: biochemical properties and clinical correlates. Cold Spring Harb Perspect Med. 2013;3(3): a011858

33. OMIM. # 603903: Sickle cell anemia. 2022. Available at: https://www.omim.org/entry/603903. Accessed September 11, 2022

34. Sundd P, Gladwin MT, Novelli EM. Pathophysiology of sickle cell disease. Annu Rev Pathol Mech Dis. 2019;14(1):263–292

35. Randolph TR. Hemoglobinopathies (structural defects in hemoglobin). In: Keohane EM, Otto CN, Walenga JM, eds. Rodak’s Hematology: Clinical Principles and Applications. 6th ed. Philadelphia, PA: Elsevier; 2020:394–423

36. Kohne E. Hemoglobinopathies: clinical manifestations, diagnosis, and treatment. Dtsch Arztebl Int. 2011;108(31-32):532–540

37. de Montalembert M. Sickle cell disease in the neonatal period [article in French]. J Gynecol Obstet Biol Reprod (Paris). 2004; 33(1 suppl): S12–S14

38. Kato GJ, Piel FB, Reid CD, et al. Sickle cell disease. Nat Rev Dis Primers. 2018; 4:18010

39. Monus T, Howell CM. Current and emerging treatments for sickle cell disease. JAAPA. 2019;32(9):1–5

40. Freommel C. Newborn screening for sickle cell disease and other hemoglobinopathies: a short review on classical laboratory methods—isoelectric focusing, HPLC, and capillary electrophoresis. IJNS. 2018;4(4):39

41. Camaschella C. Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment. Semin Hematol. 2009;46(4):371–377

42. Cooley TB. A severe type of hereditary anemia with elliptocytosis: interesting sequence of splenectomy. Am J Med Sci. 1945; 209:561

43. Donker AE, Raymakers RA, Nieuwenhuis HK, et al. X-linked sideroblastic anaemia due to ALAS2 mutations in the Netherlands: a disease in disguise. Neth J Med. 2014;72(4):210–217

44. Phillips JD. Heme biosynthesis and the porphyrias. Mol Genet Metab. 2019;128(3):164–177

45. Fujiwara T, Harigae H. Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia. Free Radic Biol Med. 2019; 133:179–185

46. Mendez M, Moreno-Carralero MI, Morado-Arias M, et al. Sideroblastic anemia: functional study of two novel missense mutations in ALAS2. Mol Genet Genomic Med. 2016;4(3):273–282

47. Aivado M, Gattermann N, Rong A, et al. X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns. Blood Cells Mol Dis. 2006;37(1):40–45

48. May A, Bishop DF. The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia. Haematologica. 1998;83(1):56–70

49. Pearson HA, Lobel JS, Kocoshis SA, et al. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr. 1979; 95(6):976–984

50. Farruggia P, Di Marco F, Dufour C. Pearson syndrome. Expert Rev Hematol. 2018;11(3):239–246

51. Rotig A, Colonna M, Bonnefont JP, et al. Mitochondrial DNA deletion in Pearson’s marrow/pancreas syndrome. Lancet. 1989; 1(8643):902–903

52. Khasawneh R, Alsokhni H, Alzghoul B, et al. A novel mitochondrial DNA deletion in patient with Pearson syndrome. Med Arch. 2018;72(2):148–150

53. Pronman L, Rondinelli M, Burkardt DD, et al. Pearson syndrome: a rare cause of failure to thrive in infants. Clin Pediatr (Phila). 2019;58(7):819–824