Congenital hypoplastic anemia

Congenital hypoplastic anemia is a congenital disorder that occasionally also includes leukopenia and thrombocytopenia and is characterized by deficiencies of red cell precursors.[1]

Congenital hypoplastic anemia
Other namesConstitutional aplastic anemia
SpecialtyHematology

Types of congenital hypoplastic anemia include Diamond–Blackfan anemia, Fanconi anemia,[1] Shwachman–Diamond syndrome, Majeed syndrome, Congenital dyserythropoietic anemia type III, and Cartilage–hair hypoplasia.[2]

Types

edit

See also

edit

References

edit
  1. ^ a b "Anemia, Hypoplastic, Congenital". NCBI. October 31, 2023. Retrieved December 18, 2023.
  2. ^ "Monarch Initiative". Monarch Initiative. Retrieved December 18, 2023.
  3. ^ Willig, Thiébaut-Noël; Gazda, Hanna; Sieff, Colin A (March 2000). "Diamond-Blackfan anemia". Current Opinion in Hematology. 7 (2): 85–94. doi:10.1097/00062752-200003000-00003. PMID 10698294. Retrieved 18 December 2023.
  4. ^ JOSEPHS, HUGH W. (1936). "Anaemia of Infancy and Early Childhood". Medicine. 15 (3). Ovid Technologies (Wolters Kluwer Health): 307–451. doi:10.1097/00005792-193615030-00001. ISSN 0025-7974.
  5. ^ Diamond, LK; Blackfan, KD (1938). "Hypoplastic Anemia". American Journal of Diseases of Children. 56: 464–467.
  6. ^ Diamond, LK; Wang, WC; Alter, BP (1976). "Congenital hypoplastic anemia". Advances in Pediatrics. 22: 349–378. doi:10.1016/S0065-3101(22)00757-5. PMID 773132. S2CID 23407603.
  7. ^ Da Costa, Lydie; Leblanc, Thierry; Mohandas, Narla (September 10, 2020). "Diamond-Blackfan anemia". Blood. 136 (11). American Society of Hematology: 1262–1273. doi:10.1182/blood.2019000947. ISSN 0006-4971. PMC 7483438. PMID 32702755.
  8. ^ Willig, Thiébaut-Noël; Niemeyer, Charlotte M; Leblanc, Thierry; Tiemann, Christian; Robert, Alain; Budde, Jörg; Lambiliotte, Anne; Kohne, Elisabeth; Souillet, Gérard; Eber, Stephan; Stephan, Jean-Louis; Girot, Robert; Bordigoni, Pierre; Cornu, Guy; Blanche, Stéphane; Guillard, Jean Marie; Mohandas, Narla (1999). "Identification of New Prognosis Factors from the Clinical and Epidemiologic Analysis of a Registry of 229 Diamond-Blackfan Anemia Patients". Pediatric Research. 46 (5). Springer Science and Business Media LLC: 553–561. doi:10.1203/00006450-199911000-00011. ISSN 0031-3998. PMID 10541318.
  9. ^ Vlachos, Adrianna; Ball, Sarah; Dahl, Niklas; Alter, Blanche P.; Sheth, Sujit; Ramenghi, Ugo; Meerpohl, Joerg; Karlsson, Stefan; Liu, Johnson M.; Leblanc, Thierry; Paley, Carole; Kang, Elizabeth M.; Leder, Eva Judmann; Atsidaftos, Eva; Shimamura, Akiko; Bessler, Monica; Glader, Bertil; Lipton, Jeffrey M. (August 21, 2008). "Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference". British Journal of Haematology. 142 (6). Wiley: 859–876. doi:10.1111/j.1365-2141.2008.07269.x. ISSN 0007-1048. PMC 2654478. PMID 18671700.
  10. ^ Orfali, Karen A.; Ohene‐Abuakwa, Yaw; Ball, Sarah E. (March 23, 2004). "Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity". British Journal of Haematology. 125 (2). Wiley: 243–252. doi:10.1111/j.1365-2141.2004.04890.x. ISSN 0007-1048. PMID 15059149.
  11. ^ Lipton, Jeffrey M. (February 1, 2007). "Diamond-Blackfan anemia: "novel" mechanisms—ribosomes and the erythron". Blood. 109 (3): 850–851. doi:10.1182/blood-2006-11-056796. Retrieved 18 December 2023.
  12. ^ Lipton, Jeffrey M.; Ellis, Steven R. (2009). "Diamond-Blackfan Anemia: Diagnosis, Treatment, and Molecular Pathogenesis". Hematology/Oncology Clinics of North America. 23 (2). Elsevier BV: 261–282. doi:10.1016/j.hoc.2009.01.004. ISSN 0889-8588. PMC 2886591. PMID 19327583.
  13. ^ Auerbach, Arleen D. (2009). "Fanconi anemia and its diagnosis". Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. 668 (1–2). Elsevier BV: 4–10. doi:10.1016/j.mrfmmm.2009.01.013. ISSN 0027-5107. PMC 2742943. PMID 19622403.
  14. ^ Bagby, Grover C.; Alter, Blanche P. (2006). "Fanconi Anemia". Seminars in Hematology. 43 (3). Elsevier BV: 147–156. doi:10.1053/j.seminhematol.2006.04.005. ISSN 0037-1963. PMID 16822457.
  15. ^ Soulier, Jean (December 10, 2011). "Fanconi Anemia". Hematology. 2011 (1). American Society of Hematology: 492–497. doi:10.1182/asheducation-2011.1.492. ISSN 1520-4391. PMID 22160080.
  16. ^ Kee, Younghoon; D’Andrea, Alan D. (November 1, 2012). "Molecular pathogenesis and clinical management of Fanconi anemia". Journal of Clinical Investigation. 122 (11). American Society for Clinical Investigation: 3799–3806. doi:10.1172/jci58321. ISSN 0021-9738. PMC 3484428. PMID 23114602.
  17. ^ a b c d Shimamura, Akiko (2006). "Shwachman-Diamond Syndrome". Seminars in Hematology. 43 (3). Elsevier BV: 178–188. doi:10.1053/j.seminhematol.2006.04.006. ISSN 0037-1963. PMID 16822460.
  18. ^ Goobie, Sharan; Popovic, Maja; Morrison, Jodi; Ellis, Lynda; Ginzberg, Hedy; Boocock, Graeme R.B.; Ehtesham, Nadia; Bétard, Christine; Brewer, Carl G.; Roslin, Nicole M.; Hudson, Thomas J.; Morgan, Kenneth; Fujiwara, T. Mary; Durie, Peter R.; Rommens, Johanna M. (2001). "Shwachman-Diamond Syndrome with Exocrine Pancreatic Dysfunction and Bone Marrow Failure Maps to the Centromeric Region of Chromosome 7". The American Journal of Human Genetics. 68 (4). Elsevier BV: 1048–1054. doi:10.1086/319505. ISSN 0002-9297. PMC 1275624. PMID 11254457.
  19. ^ Mack, DR; Forstner, GG; Wilschanski, M; Freedman, MH; Durie, PR (1996). "Shwachman syndrome: Exocrine pancreatic dysfunction and variable phenotypic expression". Gastroenterology. 111 (6). Elsevier BV: 1593–1602. doi:10.1016/s0016-5085(96)70022-7. ISSN 0016-5085. PMID 8942739.
  20. ^ Aggett, P.J.; Harries, J.T.; Harvey, Betty A.M.; Soothill, J.F. (1979). "An inherited defect of neutrophil mobility in Shwachman syndrome". The Journal of Pediatrics. 94 (3). Elsevier BV: 391–394. doi:10.1016/s0022-3476(79)80578-8. ISSN 0022-3476. PMID 423020.
  21. ^ Bogusz-Wójcik, Agnieszka; Kołodziejczyk, Honorata; Moszczyńska, Elżbieta; Klaudel-Dreszler, Maja; Oracz, Grzegorz; Pawłowska, Joanna; Szalecki, Mieczysław (June 30, 2021). "Endocrine dysfunction in children with Shwachman-Diamond syndrome". Endokrynologia Polska. 72 (3). VM Media SP. zo.o VM Group SK: 211–216. doi:10.5603/ep.a2021.0014. ISSN 2299-8306. PMID 33619711.
  22. ^ Raj, Ashok B.; Bertolone, Salvatore J.; Barch, Margaret J; Hersh, Joseph H. (2003). "Chromosome 20q Deletion and Progression to Monosomy 7 in a Patient With Shwachman-Diamond Syndrome Without MDS/AML". Journal of Pediatric Hematology/Oncology. 25 (6). Ovid Technologies (Wolters Kluwer Health): 508–509. doi:10.1097/00043426-200306000-00018. ISSN 1077-4114. PMID 12794535.
  23. ^ KORNFELD, S; KRATZ, J; DIAMOND, F; DAY, N; GOOD, R (1995). "Shwachman-Diamond syndrome associated with hypogammaglobulinemia and growth hormone deficiency". Journal of Allergy and Clinical Immunology. 96 (2). Elsevier BV: 247–250. doi:10.1016/s0091-6749(95)70014-5. ISSN 0091-6749. PMID 7636061.
  24. ^ Aggett, P J; Cavanagh, N P; Matthew, D J; Pincott, J R; Sutcliffe, J; Harries, J T (May 1, 1980). "Shwachman's syndrome. A review of 21 cases". Archives of Disease in Childhood. 55 (5). BMJ: 331–347. doi:10.1136/adc.55.5.331. ISSN 0003-9888. PMC 1626878.
  25. ^ SAVILAHTI, ERKKI; RAPOLA, JUHANI (1984). "Frequent Myocardial Lesions in Shwachman's Syndrome". Acta Paediatrica. 73 (5). Wiley: 642–651. doi:10.1111/j.1651-2227.1984.tb09989.x. ISSN 0803-5253. PMID 6485783. S2CID 22982801.
  26. ^ Burroughs, Lauri; Woolfrey, Ann; Shimamura, Akiko (2009). "Shwachman-Diamond Syndrome: A Review of the Clinical Presentation, Molecular Pathogenesis, Diagnosis, and Treatment". Hematology/Oncology Clinics of North America. 23 (2). Elsevier BV: 233–248. doi:10.1016/j.hoc.2009.01.007. ISSN 0889-8588. PMC 2754297. PMID 19327581.
  27. ^ Dror, Yigal (2005). "Shwachman‐Diamond syndrome". Pediatric Blood & Cancer. 45 (7): 892–901. doi:10.1002/pbc.20478. ISSN 1545-5009. S2CID 30113216.
  28. ^ Ferguson, Polly J.; El-Shanti, Hatem (February 28, 2021). "Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features". Biomolecules. 11 (3). MDPI AG: 367. doi:10.3390/biom11030367. ISSN 2218-273X. PMC 7997317. PMID 33670882.
  29. ^ Al‐Mosawi, Zakiya S.; Al‐Saad, Khulood K.; Ijadi‐Maghsoodi, Roya; El‐Shanti, Hatem I.; Ferguson, Polly J. (February 28, 2007). "A splice site mutation confirms the role of LPIN2 in Majeed syndrome". Arthritis & Rheumatism. 56 (3). Wiley: 960–964. doi:10.1002/art.22431. ISSN 0004-3591. PMID 17330256.
  30. ^ Bianchi, Paola; Fermo, Elisa; Vercellati, Cristina; Boschetti, Carla; Barcellini, Wilma; Iurlo, Alessandra; Marcello, Anna Paola; Righetti, Pier Giorgio; Zanella, Alberto (2009). "Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene". Human Mutation. 30 (9): 1292–1298. doi:10.1002/humu.21077. PMID 19621418. S2CID 11804195.
  31. ^ Mäkitie, O.; Kaitila, I. (1993). "Cartilage-hair hypoplasia — clinical manifestations in 108 Finnish patients". European Journal of Pediatrics. 152 (3): 211–217. doi:10.1007/BF01956147. ISSN 0340-6199. S2CID 10611620.

Further reading

edit
edit