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Congenital hypoplastic anemia

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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,
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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,
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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".
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have also been reported in some cases. The main characteristics of SDS are pancreatic exocrine and bone marrow dysfunction, which are the basis for the majority of clinical phenotype-based diagnoses. Currently, the sole treatment for the hematological complications in SDS is
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Goobie, Sharan; Popovic, Maja; Morrison, Jodi; Ellis, Lynda; Ginzberg, Hedy; Boocock, Graeme R.B.; Ehtesham, Nadia; BĂ©tard, Christine; Brewer, Carl G.; Roslin, Nicole M.; Hudson, Thomas J.; Morgan, Kenneth; Fujiwara, T. Mary; Durie, Peter R.; Rommens, Johanna M. (2001).
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Chavan, Pallavi Pimpale; Aksentijevich, Ivona; Daftary, Aditya; Panwala, Hiren; Khemani, Chetna; Khan, Archana; Khubchandani, Raju (May 15, 2021). "Majeed Syndrome: Five Cases With Novel Mutations From Unrelated Families in India With a Review of Literature".
2299: 2284: 2269: 224:(HbF) increases are frequently observed, their absence does not rule out illness. The MMC or DEB chromosomal breakage test is the accepted method for diagnosing FA. There are currently fifteen known FANC genes, with 1476:
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".
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Bogusz-WĂłjcik, Agnieszka; KoƂodziejczyk, Honorata; MoszczyƄska, ElĆŒbieta; Klaudel-Dreszler, Maja; Oracz, Grzegorz; PawƂowska, Joanna; Szalecki, MieczysƂaw (June 30, 2021).
204:. Each patient has a unique set of congenital anomalies that can impact any major organ system or skeletal morphogenesis. Although FA can occur in patients without 2528: 439: 83: 244:
therapy works well in treating bone marrow failure. Hematopoietic abnormalities in FA patients have been successfully treated with synthetic androgens like
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diagnostic criteria states that the condition must manifest before the patient turns one year old and must include near-normal or slightly decreased
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Aggett, P.J.; Harries, J.T.; Harvey, Betty A.M.; Soothill, J.F. (1979). "An inherited defect of neutrophil mobility in Shwachman syndrome".
768:"Identification of New Prognosis Factors from the Clinical and Epidemiologic Analysis of a Registry of 229 Diamond-Blackfan Anemia Patients" 2545: 2700: 1280:"Shwachman-Diamond Syndrome with Exocrine Pancreatic Dysfunction and Bone Marrow Failure Maps to the Centromeric Region of Chromosome 7" 478: 425: 146:, and difficulty sucking when nursing or using a bottle. Fifty percent of Diamond-Blackfan anemia patients are reported to have 2709: 2680: 267: 2612: 2740: 102:
is a is an uncommon congenital hypoplastic anemia that often manifests in the first few months of life. Josephs initially noted
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Al‐Mosawi, Zakiya S.; Al‐Saad, Khulood K.; Ijadi‐Maghsoodi, Roya; El‐Shanti, Hatem I.; Ferguson, Polly J. (February 28, 2007).
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in 1936, and Diamond and Blackfan provided a more thorough description of the condition in 1938. The 1976 publication of the
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inheritance; the remaining cases are either sporadic or familial and appear to have distinct inheritance patterns.
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MĂ€kitie, O.; Kaitila, I. (1993). "Cartilage-hair hypoplasia — clinical manifestations in 108 Finnish patients".
2607: 2314: 2122: 201: 193: 147: 818:"Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference" 2812: 2663: 2218: 2199: 155: 2803: 2464: 2176: 2134: 192:(FA) is a genetically and phenotypically diverse recessive disorder that is characterized by a variety of 2164: 2145: 2783: 2550: 2229: 2118: 2793: 2788: 2596: 2482: 2172: 298: 213: 2920:
incorrectly led you here, you may wish to change the link to point directly to the intended article.
216:, radial ray defects, and renal structural abnormalities can be powerful diagnostic clues. Although 2842: 2587: 2395: 2303: 2245: 443: 334: 274: 271: 2126: 1569:
Aggett, P J; Cavanagh, N P; Matthew, D J; Pincott, J R; Sutcliffe, J; Harries, J T (May 1, 1980).
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morphological abnormalities, hypoglycosylation of certain RBC membrane proteins, and ineffective
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SAVILAHTI, ERKKI; RAPOLA, JUHANI (1984). "Frequent Myocardial Lesions in Shwachman's Syndrome".
1522:"Shwachman-Diamond syndrome associated with hypogammaglobulinemia and growth hormone deficiency" 325:, usually two to three times higher than the normal range. In 88% to 100% of patients with SDS, 2237: 2879: 2869: 2828: 2823: 2818: 2759: 2591: 2580: 2570: 2504: 2487: 2478: 2460: 2422: 2187: 2157: 2130: 2099: 2081: 2041: 2033: 2000: 1992: 1944: 1901: 1865: 1857: 1812: 1794: 1745: 1710: 1692: 1645: 1637: 1592: 1551: 1543: 1502: 1494: 1458: 1450: 1409: 1401: 1366: 1358: 1317: 1299: 1259: 1251: 1209: 1191: 1150: 1142: 1101: 1093: 1058: 1040: 1001: 983: 904: 896: 855: 837: 797: 789: 747: 729: 680: 626: 578: 382: 378: 294: 209: 179: 143: 115: 35: 2278: 2141: 2575: 2560: 2499: 2089: 2073: 1984: 1936: 1893: 1847: 1802: 1784: 1737: 1700: 1684: 1629: 1600: 1582: 1533: 1486: 1440: 1393: 1348: 1307: 1291: 1243: 1199: 1181: 1132: 1085: 1048: 1032: 991: 975: 935: 886: 845: 829: 779: 737: 719: 672: 616: 570: 390: 60: 2754: 421: 79: 2195: 2149: 2233: 2222: 1337:"Shwachman syndrome: Exocrine pancreatic dysfunction and variable phenotypic expression" 2771: 2694: 2602: 2399: 2094: 2061: 1807: 1772: 1705: 1672: 1633: 1605: 1570: 1312: 1279: 1247: 1204: 1169: 1089: 1053: 1020: 996: 963: 850: 817: 742: 707: 455: 410: 394: 277:
syndrome. Roughly 90% of patients who fit the clinical criteria for SDS diagnosis have
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is a metaphyseal chondrodysplasia that is autosomally recessive and characterized by
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gene, LPIN2, is mutated in the disease, which is an autosomal recessive disorder.
385:. A common characteristic of many inherited marrow failure syndromes is elevated 2565: 2523: 389:
levels, which are frequently present. Typically defined as less than 150 109/L,
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includes a list of related items that share the same name (or similar names).
2534: 2364: 2293: 1688: 979: 358: 354: 346: 330: 221: 111: 56: 40: 2085: 2037: 1996: 1948: 1861: 1798: 1773:"Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features" 1749: 1696: 1641: 1596: 1547: 1498: 1454: 1405: 1362: 1303: 1255: 1195: 1146: 1097: 1044: 987: 900: 841: 793: 733: 724: 630: 506: 2325: 447: 362: 314: 310: 306: 302: 2901: 2045: 2004: 1905: 1869: 1816: 1714: 1506: 1462: 1321: 1263: 1213: 1154: 1105: 1062: 1005: 964:"Diamond-Blackfan Anemia: Diagnosis, Treatment, and Molecular Pathogenesis" 908: 859: 801: 751: 582: 532: 200:
that progresses over time, and a susceptibility to solid tumors as well as
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Makitie, O; Sulisalo, T; de la Chapelle, A; Kaitila, I (January 1, 1995).
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Diamond, LK; Wang, WC; Alter, BP (1976). "Congenital hypoplastic anemia".
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Da Costa, Lydie; Leblanc, Thierry; Mohandas, Narla (September 10, 2020).
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Mack, DR; Forstner, GG; Wilschanski, M; Freedman, MH; Durie, PR (1996).
924:"Diamond-Blackfan anemia: "novel" mechanisms—ribosomes and the erythron" 875:"Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity" 1940: 1897: 873:
Orfali, Karen A.; Ohene‐Abuakwa, Yaw; Ball, Sarah E. (March 23, 2004).
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affects 24% to 60% of patients. Endocrine abnormalities in SDS include
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are the typical early presentations of SDS patients. Reduced levels of
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Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis
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are the cornerstones of Diamond-Blackfan anemia treatment since 1951.
151: 139: 135: 2352: 1429:"Endocrine dysfunction in children with Shwachman-Diamond syndrome" 1295: 468:, hypoplastic hair, impaired immunity, and aberrant erythrogenesis. 365:
present as well. 42% to 66% of patients have been reported to have
1170:"Molecular pathogenesis and clinical management of Fanconi anemia" 557:
Willig, Thiébaut-Noël; Gazda, Hanna; Sieff, Colin A (March 2000).
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currently has the most prevalent mutation. There are 113 distinct
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Bagby, Grover C.; Alter, Blanche P. (2006). "Fanconi Anemia".
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and be diagnosed in adulthood, classic clinical features like
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count of less than 1,500 109/L—is the most prevalent sign of
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and is characterized by deficiencies of red cell precursors.
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KORNFELD, S; KRATZ, J; DIAMOND, F; DAY, N; GOOD, R (1995).
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Ferguson, Polly J.; El-Shanti, Hatem (February 28, 2021).
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Burroughs, Lauri; Woolfrey, Ann; Shimamura, Akiko (2009).
158: is 7 cases per million live births. About 40–45% of 1485:(6). Ovid Technologies (Wolters Kluwer Health): 508–509. 615:(3). Ovid Technologies (Wolters Kluwer Health): 307–451. 424:
is a multi-system inflammatory disease that manifests as
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Diamond, LK; Blackfan, KD (1938). "Hypoplastic Anemia".
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Shimamura, Akiko (2006). "Shwachman-Diamond Syndrome".
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Kee, Younghoon; D’Andrea, Alan D. (November 1, 2012).
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cellularity with a deficiency of red cell precursors.
317:) may occur. Young patients with SDS frequently have 2251: 2862: 2802: 2753: 2649: 2640: 2513: 2498: 2451: 2442: 2435: 2413: 2406: 2340: 2255: 34: 26: 21: 1728:Dror, Yigal (2005). "Shwachman‐Diamond syndrome". 718:(11). American Society of Hematology: 1262–1273. 501: 499: 349:counts can be anywhere from normal to very low. 240:being the most common. For certain FA patients, 2907:Index of articles associated with the same name 2209:Congenital dyserythropoietic anemia type III - 256:is still the first line of treatment of choice. 66:Types of congenital hypoplastic anemia include 2022:"Congenital dyserythropoietic anemia type III" 1131:(1). American Society of Hematology: 492–497. 2380: 1832:"A splice site mutation confirms the role of 1439:(3). VM Media SP. zo.o VM Group SK: 211–216. 962:Lipton, Jeffrey M.; Ellis, Steven R. (2009). 8: 2529:Glucose-6-phosphate dehydrogenase deficiency 2234:Genetic and Rare Diseases Information Center 2223:Genetic and Rare Diseases Information Center 2196:Genetic and Rare Diseases Information Center 1677:Hematology/Oncology Clinics of North America 1571:"Shwachman's syndrome. A review of 21 cases" 968:Hematology/Oncology Clinics of North America 440:Congenital dyserythropoietic anemia type III 84:Congenital dyserythropoietic anemia type III 2020:Sandstrom, H; Wahlin, A (January 1, 2000). 2885:Hereditary persistence of fetal hemoglobin 2646: 2510: 2448: 2439: 2410: 2387: 2373: 2365: 2252: 1526:Journal of Allergy and Clinical Immunology 18: 2837:Mean corpuscular hemoglobin concentration 2659:Warm antibody autoimmune hemolytic anemia 2093: 1851: 1806: 1788: 1704: 1604: 1586: 1537: 1444: 1352: 1311: 1203: 1185: 1136: 1052: 995: 939: 890: 849: 783: 741: 723: 620: 341:, while the remaining third have chronic 2173:National Organization for Rare Disorders 2150:National Organization for Rare Disorders 2127:National Organization for Rare Disorders 1479:Journal of Pediatric Hematology/Oncology 646:American Journal of Diseases of Children 605:"Anaemia of Infancy and Early Childhood" 922:Lipton, Jeffrey M. (February 1, 2007). 495: 416:hematopoietic stem cell transplantation 254:hematopoietic stem cell transplantation 1284:The American Journal of Human Genetics 7: 2546:triosephosphate isomerase deficiency 337:. About two thirds of patients have 2701:paroxysmal nocturnal hemoglobinuria 2669:Donath–Landsteiner hemolytic anemia 1119:Soulier, Jean (December 10, 2011). 479:Congenital dyserythropoietic anemia 432:, and neutrophilic dermatosis. The 426:congenital dyserythropoietic anemia 1634:10.1111/j.1651-2227.1984.tb09989.x 1248:10.1053/j.seminhematol.2006.04.006 1090:10.1053/j.seminhematol.2006.04.005 1021:"Fanconi anemia and its diagnosis" 14: 2710:Microangiopathic hemolytic anemia 2681:Mixed autoimmune hemolytic anemia 1174:Journal of Clinical Investigation 507:"Anemia, Hypoplastic, Congenital" 268:exocrine pancreatic insufficiency 2900: 2741:Hemolytic disease of the newborn 1575:Archives of Disease in Childhood 1491:10.1097/00043426-200306000-00018 892:10.1111/j.1365-2141.2004.04890.x 834:10.1111/j.1365-2141.2008.07269.x 785:10.1203/00006450-199911000-00011 622:10.1097/00005792-193615030-00001 575:10.1097/00062752-200003000-00003 252:. When bone marrow fails in FA, 55:that occasionally also includes 1138:10.1182/asheducation-2011.1.492 2674:Paroxysmal cold hemoglobinuria 1929:European Journal of Pediatrics 879:British Journal of Haematology 822:British Journal of Haematology 816:Jeffrey M. (August 21, 2008). 357:numbers as well as neutrophil 30:Constitutional aplastic anemia 1: 2163:Shwachman–Diamond syndrome - 1539:10.1016/s0091-6749(95)70014-5 1398:10.1016/s0022-3476(79)80578-8 1354:10.1016/s0016-5085(96)70022-7 1347:(6). Elsevier BV: 1593–1602. 1290:(4). Elsevier BV: 1048–1054. 677:10.1016/S0065-3101(22)00757-5 563:Current Opinion in Hematology 434:phosphatidic acid phosphatase 399:hypogonadotropic hypogonadism 49:Congenital hypoplastic anemia 22:Congenital hypoplastic anemia 2625:Southeast Asian ovalocytosis 2613:Minkowski–Chauffard syndrome 2228:Cartilage–hair hypoplasia - 1730:Pediatric Blood & Cancer 1037:10.1016/j.mrfmmm.2009.01.013 1019:Auerbach, Arleen D. (2009). 941:10.1182/blood-2006-11-056796 289:'s 7q11 centromeric region. 162:cases are familial and have 2066:Journal of Medical Genetics 2062:"Cartilage-hair hypoplasia" 1977:The Journal of Rheumatology 1683:(2). Elsevier BV: 233–248. 1532:(2). Elsevier BV: 247–250. 1392:(3). Elsevier BV: 391–394. 1242:(3). Elsevier BV: 178–188. 1084:(3). Elsevier BV: 147–156. 974:(2). Elsevier BV: 261–282. 2956: 2899: 2734:Drug-induced nonautoimmune 2715:Thrombotic microangiopathy 2541:pyruvate kinase deficiency 2177:Boston Children’s Hospital 2117:Diamond–Blackfan anemia - 1840:Arthritis & Rheumatism 1031:(1–2). Elsevier BV: 4–10. 407:insulin-dependent diabetes 353:, there is a reduction in 260:Shwachman–Diamond syndrome 138:-related symptoms such as 76:Shwachman–Diamond syndrome 2720:Hemolytic–uremic syndrome 2632:Hereditary stomatocytosis 2620:Hereditary elliptocytosis 2246:Nemours Children's Health 1689:10.1016/j.hoc.2009.01.007 1386:The Journal of Pediatrics 980:10.1016/j.hoc.2009.01.004 708:"Diamond-Blackfan anemia" 603:JOSEPHS, HUGH W. (1936). 559:"Diamond-Blackfan anemia" 462:Cartilage–hair hypoplasia 446:disease characterized by 403:growth hormone deficiency 88:Cartilage–hair hypoplasia 2608:Hereditary spherocytosis 725:10.1182/blood.2019000947 339:intermittent neutropenia 329:—generally defined as a 202:hematologic malignancies 194:congenital malformations 148:congenital malformations 134:in infants manifests as 2813:Mean corpuscular volume 2777:Diamond–Blackfan anemia 2729:Drug-induced autoimmune 2664:Cold agglutinin disease 2470:Plummer–Vinson syndrome 176:Diamond-Blackfan anemia 160:Diamond-Blackfan anemia 156:Diamond-Blackfan anemia 132:Diamond-Blackfan anemia 108:Diamond-Blackfan anemia 104:Diamond-Blackfan anemia 100:Diamond–Blackfan anemia 68:Diamond–Blackfan anemia 2465:Iron-deficiency anemia 2242:Johns Hopkins Medicine 1236:Seminars in Hematology 1078:Seminars in Hematology 665:Advances in Pediatrics 361:. There might be more 2784:Pure red cell aplasia 2551:hexokinase deficiency 1989:10.3899/jrheum.201663 1846:(3). Wiley: 960–964. 1628:(5). Wiley: 642–651. 1446:10.5603/ep.a2021.0014 1433:Endokrynologia Polska 885:(2). Wiley: 243–252. 828:(6). Wiley: 859–876. 428:, chronic multifocal 373:count is not raised. 180:Red cell transfusions 2789:Sideroblastic anemia 2597:Hemoglobin C disease 2483:Megaloblastic anemia 1790:10.3390/biom11030367 1588:10.1136/adc.55.5.331 533:"Monarch Initiative" 321:with elevated liver 299:fat-soluble vitamins 174:mutations linked to 2588:Sickle cell disease 2078:10.1136/jmg.32.1.39 1836:in Majeed syndrome" 1783:(3). MDPI AG: 367. 1581:(5). BMJ: 331–347. 444:autosomal recessive 335:bone marrow failure 272:autosomal recessive 266:predisposition and 212:, small head size, 154:. The incidence of 53:congenital disorder 2935:Set index articles 2875:Sulfhemoglobinemia 2341:External resources 2186:Majeed syndrome - 1941:10.1007/BF01956147 1898:10.1002/humu.21077 772:Pediatric Research 537:Monarch Initiative 513:. October 31, 2023 214:cafĂ©-au-lait spots 210:growth retardation 206:congenital defects 164:autosomal dominant 2911:set index article 2897: 2896: 2893: 2892: 2880:Reticulocytopenia 2870:Methemoglobinemia 2858: 2857: 2749: 2748: 2689: 2688: 2488:Pernicious anemia 2431: 2430: 2423:Polycythemia vera 2362: 2361: 2140:Fanconi anemia - 2072:(1). BMJ: 39–43. 1983:(12): 1850–1855. 1853:10.1002/art.22431 1742:10.1002/pbc.20478 295:failure to thrive 144:failure to thrive 116:reticulocytopenia 46: 45: 16:Medical condition 2947: 2940:Aplastic anemias 2921: 2904: 2647: 2561:hemoglobinopathy 2511: 2449: 2440: 2411: 2389: 2382: 2375: 2366: 2253: 2169:Cleveland Clinic 2146:Cleveland Clinic 2123:Cleveland Clinic 2107: 2097: 2056: 2054: 2052: 2016: 1961: 1960: 1924: 1918: 1917: 1892:(9): 1292–1298. 1880: 1874: 1873: 1855: 1827: 1821: 1820: 1810: 1792: 1768: 1762: 1761: 1725: 1719: 1718: 1708: 1668: 1662: 1661: 1622:Acta Paediatrica 1617: 1611: 1610: 1608: 1590: 1566: 1560: 1559: 1541: 1517: 1511: 1510: 1473: 1467: 1466: 1448: 1424: 1418: 1417: 1381: 1375: 1374: 1356: 1341:Gastroenterology 1332: 1326: 1325: 1315: 1274: 1268: 1267: 1231: 1218: 1217: 1207: 1189: 1187:10.1172/jci58321 1165: 1159: 1158: 1140: 1121:"Fanconi Anemia" 1116: 1110: 1109: 1073: 1067: 1066: 1056: 1016: 1010: 1009: 999: 959: 953: 952: 950: 948: 943: 919: 913: 912: 894: 870: 864: 863: 853: 812: 806: 805: 787: 762: 756: 755: 745: 727: 703: 697: 696: 660: 654: 653: 641: 635: 634: 624: 600: 594: 593: 591: 589: 554: 548: 547: 545: 543: 529: 523: 522: 520: 518: 503: 411:Cardiomyopathies 391:thrombocytopenia 281:gene mutations. 61:thrombocytopenia 19: 2955: 2954: 2950: 2949: 2948: 2946: 2945: 2944: 2925: 2924: 2923: 2922: 2915: 2914: 2908: 2898: 2889: 2854: 2798: 2757: 2745: 2685: 2636: 2502: 2494: 2427: 2402: 2400:red blood cells 2393: 2363: 2358: 2357: 2336: 2335: 2264: 2114: 2059: 2050: 2048: 2019: 1973: 1970: 1968:Further reading 1965: 1964: 1926: 1925: 1921: 1882: 1881: 1877: 1829: 1828: 1824: 1770: 1769: 1765: 1727: 1726: 1722: 1670: 1669: 1665: 1619: 1618: 1614: 1568: 1567: 1563: 1519: 1518: 1514: 1475: 1474: 1470: 1426: 1425: 1421: 1383: 1382: 1378: 1334: 1333: 1329: 1276: 1275: 1271: 1233: 1232: 1221: 1167: 1166: 1162: 1118: 1117: 1113: 1075: 1074: 1070: 1018: 1017: 1013: 961: 960: 956: 946: 944: 921: 920: 916: 872: 871: 867: 814: 813: 809: 764: 763: 759: 705: 704: 700: 662: 661: 657: 643: 642: 638: 602: 601: 597: 587: 585: 556: 555: 551: 541: 539: 531: 530: 526: 516: 514: 505: 504: 497: 492: 475: 422:Majeed syndrome 369:. Usually, the 285:corresponds to 184:corticosteroids 150:in addition to 96: 80:Majeed syndrome 17: 12: 11: 5: 2953: 2951: 2943: 2942: 2937: 2927: 2926: 2906: 2905: 2895: 2894: 2891: 2890: 2888: 2887: 2882: 2877: 2872: 2866: 2864: 2860: 2859: 2856: 2855: 2853: 2852: 2851: 2850: 2845: 2833: 2832: 2831: 2826: 2821: 2808: 2806: 2800: 2799: 2797: 2796: 2791: 2786: 2779: 2774: 2772:Fanconi anemia 2765: 2763: 2751: 2750: 2747: 2746: 2744: 2743: 2737: 2736: 2731: 2725: 2724: 2723: 2722: 2712: 2706: 2705: 2704: 2703: 2690: 2687: 2686: 2684: 2683: 2678: 2677: 2676: 2666: 2661: 2655: 2653: 2644: 2638: 2637: 2635: 2634: 2629: 2628: 2627: 2617: 2616: 2615: 2599: 2594: 2585: 2584: 2583: 2578: 2573: 2556: 2555: 2554: 2553: 2548: 2543: 2531: 2519: 2517: 2508: 2496: 2495: 2493: 2492: 2491: 2490: 2475: 2474: 2473: 2472: 2457: 2455: 2446: 2437: 2433: 2432: 2429: 2428: 2426: 2425: 2419: 2417: 2408: 2404: 2403: 2394: 2392: 2391: 2384: 2377: 2369: 2360: 2359: 2356: 2355: 2345: 2344: 2342: 2338: 2337: 2334: 2333: 2322: 2311: 2296: 2281: 2265: 2260: 2259: 2257: 2256:Classification 2250: 2249: 2226: 2207: 2184: 2161: 2138: 2113: 2112:External links 2110: 2109: 2108: 2057: 2032:(7): 753–757. 2017: 1969: 1966: 1963: 1962: 1935:(3): 211–217. 1919: 1886:Human Mutation 1875: 1822: 1763: 1736:(7): 892–901. 1720: 1663: 1612: 1561: 1512: 1468: 1419: 1376: 1327: 1296:10.1086/319505 1269: 1219: 1160: 1111: 1068: 1011: 954: 934:(3): 850–851. 914: 865: 807: 766:Narla (1999). 757: 698: 655: 636: 595: 549: 524: 494: 493: 491: 488: 487: 486: 481: 474: 471: 470: 469: 459: 456:erythropoiesis 442:(CDAII) is an 437: 419: 395:hypothyroidism 377:can be either 275:marrow failure 257: 190:Fanconi anemia 187: 95: 92: 72:Fanconi anemia 44: 43: 38: 32: 31: 28: 24: 23: 15: 13: 10: 9: 6: 4: 3: 2: 2952: 2941: 2938: 2936: 2933: 2932: 2930: 2919: 2918:internal link 2912: 2903: 2886: 2883: 2881: 2878: 2876: 2873: 2871: 2868: 2867: 2865: 2861: 2849: 2846: 2844: 2841: 2840: 2839: 2838: 2834: 2830: 2827: 2825: 2822: 2820: 2817: 2816: 2815: 2814: 2810: 2809: 2807: 2805: 2801: 2795: 2794:Myelophthisic 2792: 2790: 2787: 2785: 2781: 2780: 2778: 2775: 2773: 2769: 2766: 2764: 2761: 2756: 2752: 2742: 2739: 2738: 2735: 2732: 2730: 2727: 2726: 2721: 2718: 2717: 2716: 2713: 2711: 2708: 2707: 2702: 2699: 2698: 2697: 2696: 2692: 2691: 2682: 2679: 2675: 2672: 2671: 2670: 2667: 2665: 2662: 2660: 2657: 2656: 2654: 2652: 2648: 2645: 2643: 2639: 2633: 2630: 2626: 2623: 2622: 2621: 2618: 2614: 2611: 2610: 2609: 2606: 2604: 2600: 2598: 2595: 2593: 2589: 2586: 2582: 2579: 2577: 2574: 2572: 2569: 2568: 2567: 2564: 2562: 2558: 2557: 2552: 2549: 2547: 2544: 2542: 2539: 2538: 2537: 2536: 2532: 2530: 2527: 2525: 2521: 2520: 2518: 2516: 2512: 2509: 2506: 2501: 2497: 2489: 2486: 2485: 2484: 2480: 2477: 2476: 2471: 2468: 2467: 2466: 2462: 2459: 2458: 2456: 2454: 2450: 2447: 2445: 2441: 2438: 2434: 2424: 2421: 2420: 2418: 2416: 2412: 2409: 2405: 2401: 2397: 2390: 2385: 2383: 2378: 2376: 2371: 2370: 2367: 2354: 2350: 2347: 2346: 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and normal 125: 121: 117: 113: 109: 105: 101: 98: 97: 93: 91: 89: 85: 81: 77: 73: 69: 64: 62: 58: 54: 50: 42: 39: 37: 33: 29: 25: 20: 2843:normochromic 2835: 2811: 2767: 2693: 2601: 2559: 2533: 2522: 2415:Polycythemia 2348: 2324: 2313: 2298: 2283: 2268: 2069: 2065: 2051:December 18, 2049:. Retrieved 2029: 2025: 1980: 1976: 1932: 1928: 1922: 1889: 1885: 1878: 1843: 1839: 1833: 1825: 1780: 1777:Biomolecules 1776: 1766: 1733: 1729: 1723: 1680: 1676: 1666: 1625: 1621: 1615: 1578: 1574: 1564: 1529: 1525: 1515: 1482: 1478: 1471: 1436: 1432: 1422: 1389: 1385: 1379: 1344: 1340: 1330: 1287: 1283: 1272: 1239: 1235: 1177: 1173: 1163: 1128: 1124: 1114: 1081: 1077: 1071: 1028: 1024: 1014: 971: 967: 957: 945:. Retrieved 931: 927: 917: 882: 878: 868: 825: 821: 810: 775: 771: 760: 715: 711: 701: 668: 664: 658: 649: 645: 639: 612: 608: 598: 586:. Retrieved 569:(2): 85–94. 566: 562: 552: 542:December 18, 540:. Retrieved 536: 527: 517:December 18, 515:. Retrieved 510: 484:Birth defect 452:erythroblast 387:hemoglobin F 371:reticulocyte 319:hepatomegaly 287:chromosome 7 218:macrocytosis 198:pancytopenia 124:macrocytosis 65: 48: 47: 2848:hypochromic 2804:Blood tests 2566:Thalassemia 2524:enzymopathy 2453:Nutritional 2230:MedlinePlus 2188:MedlinePlus 2165:MedlinePlus 2142:MedlinePlus 2119:MedlinePlus 947:18 December 671:: 349–378. 588:18 December 343:neutropenia 327:neutropenia 291:Steatorrhea 262:(SDS) is a 250:oxymetholon 118:, variable 27:Other names 2929:Categories 2829:macrocytic 2824:microcytic 2819:normocytic 2782:Acquired: 2768:Hereditary 2535:glycolysis 2515:Hereditary 1125:Hematology 652:: 464–467. 490:References 383:normocytic 379:macrocytic 363:cytopenias 359:chemotaxis 355:neutrophil 347:Neutrophil 331:neutrophil 222:hemoglobin 220:and fetal 112:neutrophil 57:leukopenia 41:Hematology 2500:Hemolytic 2326:SNOMED CT 2086:1468-6244 2038:1592-8721 2013:234745719 1997:0315-162X 1949:0340-6199 1862:0004-3591 1799:2218-273X 1750:1545-5009 1697:0889-8588 1642:0803-5253 1597:0003-9888 1548:0091-6749 1499:1077-4114 1455:2299-8306 1406:0022-3476 1363:0016-5085 1304:0002-9297 1256:0037-1963 1196:0021-9738 1147:1520-4391 1098:0037-1963 1045:0027-5107 988:0889-8588 901:0007-1048 842:0007-1048 794:0031-3998 734:0006-4971 631:0025-7974 448:hemolysis 270:-related 36:Specialty 2758:(mostly 2755:Aplastic 2695:membrane 2642:Acquired 2603:membrane 2503:(mostly 2396:Diseases 2353:Q5160440 2331:88854002 2238:Orphanet 2219:Orphanet 2200:Orphanet 2181:Orphanet 2158:Orphanet 2135:Orphanet 2046:10897128 2005:33993107 1957:10611620 1914:11804195 1906:19621418 1870:17330256 1817:33670882 1758:30113216 1715:19327581 1658:22982801 1507:12794535 1463:33619711 1322:11254457 1264:16822460 1214:23114602 1155:22160080 1106:16822457 1063:19622403 1006:19327583 909:15059149 860:18671700 802:10541318 752:32702755 693:23407603 609:Medicine 583:10698294 473:See also 351:In vitro 264:leukemia 242:androgen 122:counts, 120:platelet 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2909:This 2863:Other 2592:trait 2581:delta 2571:alpha 2294:D61.0 2154:WebMD 2131:WebMD 2009:S2CID 1953:S2CID 1910:S2CID 1834:LPIN2 1754:S2CID 1654:S2CID 928:Blood 712:Blood 689:S2CID 234:FANCG 230:FANCC 226:FANCA 172:RPS19 168:RPS19 94:Types 51:is a 2651:AIHA 2576:beta 2315:MeSH 2304:9-CM 2279:KA8C 2192:OMIM 2100:PMID 2082:ISSN 2053:2023 2042:PMID 2034:ISSN 2001:PMID 1993:ISSN 1945:ISSN 1902:PMID 1866:PMID 1858:ISSN 1813:PMID 1795:ISSN 1746:ISSN 1711:PMID 1693:ISSN 1646:PMID 1638:ISSN 1593:ISSN 1552:PMID 1544:ISSN 1503:PMID 1495:ISSN 1459:PMID 1451:ISSN 1410:PMID 1402:ISSN 1367:PMID 1359:ISSN 1318:PMID 1300:ISSN 1260:PMID 1252:ISSN 1210:PMID 1192:ISSN 1151:PMID 1143:ISSN 1129:2011 1102:PMID 1094:ISSN 1059:PMID 1041:ISSN 1002:PMID 984:ISSN 949:2023 905:PMID 897:ISSN 856:PMID 838:ISSN 798:PMID 790:ISSN 748:PMID 730:ISSN 681:PMID 627:ISSN 590:2023 579:PMID 544:2023 519:2023 511:NCBI 375:RBCs 293:and 283:SBDS 279:SBDS 248:and 182:and 59:and 2398:of 2309:284 2300:ICD 2285:ICD 2270:ICD 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Index

Specialty
Hematology
congenital disorder
leukopenia
thrombocytopenia
Diamond–Blackfan anemia
Fanconi anemia
Shwachman–Diamond syndrome
Majeed syndrome
Congenital dyserythropoietic anemia type III
Cartilage–hair hypoplasia
Diamond–Blackfan anemia
Diamond-Blackfan anemia
Diamond-Blackfan anemia
neutrophil
reticulocytopenia
platelet
macrocytosis
marrow
Diamond-Blackfan anemia
anemia
pallor
failure to thrive
congenital malformations
anemia
Diamond-Blackfan anemia
Diamond-Blackfan anemia
autosomal dominant
RPS19
RPS19

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