2322:
230:
coding sequences. However, recent findings suggest that extended splice site variations have not been sufficiently recognized and are quite common. Recent studies have begun to characterize the molecular signatures associated with specific mutations that lead to aberrant splicing impacting ribosomal proteins such as RPL11.
1108:
Boria, I; Garelli, E; Gazda, H. T.; Aspesi, A; Quarello, P; Pavesi, E; Ferrante, D; Meerpohl, J. J.; Kartal, M; Da Costa, L; Proust, A; Leblanc, T; Simansour, M; Dahl, N; Fröjmark, A. S.; Pospisilova, D; Cmejla, R; Beggs, A. H.; Sheen, M. R.; Landowski, M; Buros, C. M.; Clinton, C. M.; Dobson, L. J.;
834:
from BMTs may exceed those from iron overloading. A 2007 study showed the efficacy of leucine and isoleucine supplementation in one patient. Larger studies are being conducted. The future of treatment for DBA looks bright. There are advancements that are happening with blood stem cell research. Once
1163:
Ulirsch, JC; Verboon, JM; Kazerounian, S; Guo, MH; Yuan, D; Ludwig, LS; Handsaker, RE; Abdulhay, NJ; Fiorini, C; Genovese, G; Lim, ET; Cheng, A; Cummings, BB; Chao, KR; Beggs, AH; Genetti, CA; Sieff, CA; Newburger, PE; Niewiadomska, E; Matysiak, M; Vlachos, A; Lipton, JM; Atsidaftos, E; Glader, B;
229:
are the most frequently mutated genes in DBA patients. Given that ribosome function is essential for life, DBA patients carry loss-of-function alleles affecting only one copy. Initial descriptions of DBA patients primarily concentrated on nonsense and missense mutations within ribosomal protein
2036:
Gustavsson P, Willing TN, van
Haeringen A, Tchernia G, Dianzani I, Donner M, Elinder G, Henter JI, Nilsson PG, Gordon L, Skeppner G, van't Veer-Korthof L, Kreuger A, Dahl N (1997). "Diamond–Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb".
754:
broadly and impact many tissues. However, DBA is characterized by dominant inheritance, and arises from partial loss of ribosomal function, so it is possible that erythroid progenitors are more sensitive to this decreased function, while most other tissues are less affected.
2890:
2129:
Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, Dianzani I, Ball S, Tchernia G, Klar J, Matsson H, Tentler D, Mohandas N, Carlsson B, Dahl N (1999). "The gene encoding ribosomal protein S19 is mutated in
Diamond–Blackfan anaemia".
1164:
Narla, A; Gleizes, PE; O'Donohue, MF; Montel-Lehry, N; Amor, DJ; McCarroll, SA; O'Donnell-Luria, AH; Gupta, N; Gabriel, SB; MacArthur, DG; Lander, ES; Lek, M; Da Costa, L; Nathan, DG; Korostelev, AA; Do, R; Sankaran, VG; Gazda, HT (6 December 2018).
2173:
Gazda H, Lipton JM, Willig TN, Ball S, Niemeyer CM, Tchernia G, Mohandas N, Daly MJ, Ploszynska A, Orfali KA, Vlachos A, Glader BE, Rokicka-Milewska R, Ohara A, Baker D, Pospisilova D, Webber A, Viskochil DH, Nathan DG, Beggs AH, Sieff CA (2001).
2248:
2233:
793:
Most patients are diagnosed in the first two years of life. However, some mildly affected individuals only receive attention after a more severely affected family member is identified.About 20–25% of DBA patients may be identified with a
871:) were found to be associated with disease in 42 of 172 DBA patients. In 2001, a second DBA gene was localized to a region of chromosome 8, and further genetic heterogeneity was inferred. Additional genes were subsequently identified.
2883:
674:
position 19q13.2. Some previously undiagnosed relatives of DBA patients were found to carry mutations, and also had increased adenosine deaminase levels in their red blood cells, but had no other overt signs of disease.
2876:
830:(BMT) can cure hematological aspects of DBA. This option may be considered when patients become transfusion-dependent because frequent transfusions can lead to iron overloading and organ damage. However,
813:
can be used to treat anemia in DBA. In a large study of 225 patients, 82% initially responded to this therapy, although many side effects were noted. Some patients remained responsive to steroids, while
835:
the advances are made and patients can be treated, not only with the patient's quality of life but also their life expectancy will increase while the number of relapses after treatment should decrease.
682:
mutations determined that 18 of 38 families showed evidence for involvement of an unknown gene on chromosome 8 at 8p23.3-8p22. The precise genetic defect in these families has not yet been delineated.
3172:
863:
data on 30 patients and noted an association with skeletal abnormalities. In 1997, a region on chromosome 19 was determined to carry a gene mutated in some DBA. In 1999, mutations in the
778:(immature red blood cells) counts, and diminished erythroid precursors in bone marrow. Features that support a diagnosis of DBA include the presence of congenital abnormalities,
662:
analysis in affected families also implicated this region in disease, and led to the cloning of the first DBA gene. About 20–25% of DBA cases are caused by mutations in the
1233:
Sankaran, Vijay G.; Ghazvinian, Roxanne; Do, Ron; Thiru, Prathapan; Vergilio, Jo-Anne; Beggs, Alan H.; Sieff, Colin A.; Orkin, Stuart H.; Nathan, David G. (2012-07-02).
1341:"Loss of coordinated expression between ribosomal and mitochondrial genes revealed by comprehensive characterization of a large family with a rare Mendelian disorder"
2957:
1282:
Parrella, Sara; Aspesi, Anna; Quarello, Paola; Garelli, Emanuela; Pavesi, Elisa; Carando, Adriana; Nardi, Margherita; Ellis, Steven R.; Ramenghi, Ugo (2014-07-01).
1797:
Vlachos A, Klein GW, Lipton JM (2001). "The
Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond–Blackfan anemia".
2497:
1682:
Gripp K W; Curry C; Olney A H; Sandoval C; Fisher J; Chong J X; UW Center for
Mendelian Genomics; Pilchman L; Sahraoui R; Stabley D L; Sol-Church K (2014).
2939:
2702:
2853:
2355:
97:
1483:
Cmejla R, Cmejlova J, Handrkova H, Petrak J, Pospisilova D (December 2007). "Ribosomal protein S17 gene (RPS17) is mutated in
Diamond–Blackfan anemia".
1015:"Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond–Blackfan anemia"
2805:
2627:
1832:
Saunders, E. F.; Olivieri, N; Freedman, M. H. (1993). "Unexpected complications after bone marrow transplantation in transfusion-dependent children".
2697:
2637:
1901:
209:, affecting different ribosomal gene loci: Exceptions to this paradigm have been demonstrated, such as with rare mutations of transcription factor
1418:
2514:
3098:
2669:
2263:
1661:
1646:
1628:
3108:
3051:
920:
2678:
2649:
1781:
2581:
2709:
1582:"Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients"
3062:
2904:
2642:
2348:
880:
3067:
3003:
2688:
746:
defect specifically affecting the erythroid progenitor population. Loss of ribosomal function might be predicted to affect
3132:
2736:
1684:"Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28"
2593:
2438:
170:. Low birth weight and generalized growth delay are sometimes observed. DBA patients have a modest risk of developing
3047:
3011:
2619:
2483:
827:
3142:
3088:
2683:
2509:
706:
2176:"Evidence for linkage of familial Diamond–Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease"
1733:"Evidence for linkage of familial Diamond–Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease"
3177:
2944:
2610:
2600:
2588:
2341:
702:
640:
2576:
2274:
2868:
2317:
3084:
2998:
2781:
2632:
3167:
2993:
2900:
2772:
2433:
1079:
747:
651:. This suggested that the affected gene might lie in one of the two regions that were disrupted by this
2752:
2519:
937:
885:
864:
2001:
Diamond LK, Allen DW, Magill FB (1961). "Congenital (erythroid) hypoplastic anemia: a 25 year study".
3116:
3093:
2968:
2762:
2757:
2565:
2451:
823:
751:
3137:
2811:
2556:
2364:
2252:
787:
655:
2934:
2843:
2816:
2421:
2155:
2062:
1931:
1508:
1378:
860:
819:
768:
187:
964:"The Diverse Genomic Landscape of Diamond–Blackfan Anemia: Two Novel Variants and a Mini-Review"
3077:
3021:
2953:
2848:
2838:
2797:
2792:
2787:
2728:
2560:
2549:
2539:
2473:
2456:
2447:
2429:
2391:
2197:
2147:
2111:
2054:
2018:
1923:
1882:
1841:
1814:
1777:
1754:
1713:
1611:
1557:
1500:
1465:
1414:
1370:
1321:
1303:
1264:
1195:
1140:
1036:
995:
916:
183:
128:
46:
843:
First noted by Hugh W. Josephs in 1936, the condition is however named for the pediatricians
3058:
2544:
2529:
2468:
2187:
2139:
2101:
2093:
2046:
2010:
1962:
1913:
1872:
1806:
1744:
1703:
1695:
1601:
1593:
1547:
1539:
1492:
1455:
1447:
1360:
1352:
1311:
1295:
1254:
1246:
1185:
1177:
1130:
1122:
1055:
1026:
985:
975:
848:
783:
143:
93:
119:
A variety of other congenital abnormalities may also occur in DBA, such as hand anomalies.
2985:
2723:
2082:"Diamond–Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation"
1528:"Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond–Blackfan anemia"
844:
810:
659:
2327:
2014:
1109:
Vlachos, A; Atsidaftos, E; Lipton, J. M.; Ellis, S. R.; Ramenghi, U; Dianzani, I (2010).
911:
Kaushansky, K; Lichtman, M; Beutler, E; Kipps, T; Prchal, J; Seligsohn, U. (2010). "35".
116:. There is a risk to develop acute myelogenous leukemia (AML) and certain other cancers.
2303:
1221:
Online
Mendelian Inheritance in Man. Diamond-Blackfan anemia. Johns Hopkins University.
990:
963:
3029:
2740:
2663:
2571:
2368:
2257:
2106:
2081:
1708:
1683:
1606:
1581:
1552:
1527:
1460:
1435:
1365:
1340:
1316:
1283:
1259:
1234:
1190:
1165:
1135:
1110:
856:
831:
139:
109:
81:
17:
41:
Blackfan-Diamond anemia, inherited pure red cell aplasia, inherited erythroblastopenia
3161:
1967:
1950:
1918:
1810:
1382:
644:
206:
2159:
1935:
1512:
3072:
2383:
2080:
Gustavsson P, Skeppner G, Johansson B, Berg T, Gordon L, Kreuger A, Dahl N (1997).
2066:
1861:"Successful treatment of a Diamond–Blackfan anemia patient with amino acid leucine"
795:
779:
775:
648:
167:
159:
113:
1339:
Panici, B; Nakajima, H; Carlston, CM; Ozadam, H; Cenik, C; Cenik, ES (July 2021).
1235:"Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia"
2279:
1543:
2534:
2492:
1356:
852:
764:
717:
671:
652:
614:
147:
105:
101:
1597:
1181:
826:
may occur, during which transfusions and steroid treatments are not required.
2503:
2333:
2298:
2242:
1111:"The ribosomal basis of Diamond-Blackfan Anemia: Mutation and database update"
740:
191:
163:
155:
67:
51:
2192:
2175:
1749:
1732:
1307:
980:
3039:
1284:"Loss of GATA-1 full length as a cause of Diamond–Blackfan anemia phenotype"
743:
663:
132:
70:
2201:
2022:
1927:
1886:
1877:
1860:
1818:
1758:
1717:
1615:
1561:
1504:
1469:
1374:
1325:
1268:
1199:
1144:
1040:
999:
2151:
2115:
2058:
1845:
2918:
2097:
1699:
815:
198:
171:
151:
89:
2225:
194:. Approximately 10–25% of DBA occurs with a family history of disease.
2050:
1496:
1126:
1031:
1014:
77:
73:
1299:
2412:
2237:
1250:
1158:
1156:
1154:
1086:. National Center for Advancing Translational Sciences. February 2023
627:
388:
135:
85:
1434:
Gazda HT, Grabowska A, Merida-Long LB, et al. (December 2006).
1451:
701:
The genetic abnormalities underpinning the combination of DBA with
162:
malformations, thumb or upper limb abnormalities, cardiac defects,
88:), without substantially affecting the other blood components (the
2964:
1902:"Living with Diamond Blackfan Anemia: A Challenge Toward Survival"
1436:"Ribosomal protein S24 gene is mutated in Diamond–Blackfan anemia"
799:
727:
722:
711:
694:
622:
618:
596:
570:
544:
518:
492:
440:
362:
336:
290:
210:
202:
154:
period. About 47% of affected individuals also have a variety of
2143:
2928:
2268:
1665:
1650:
1632:
1222:
1013:
Cmejla R, Cmejlova J, Handrkova H, et al. (February 2009).
859:
was reported in 1951. In 1961, Diamond and colleagues presented
688:
591:
586:
565:
560:
539:
534:
513:
508:
487:
482:
466:
461:
456:
435:
430:
414:
409:
404:
383:
378:
357:
352:
331:
326:
309:
285:
280:
197:~70% of DBA cases can be attributed genetic mutations affecting
2872:
2337:
639:
In 1997, a patient was identified who carried a rare balanced
1526:
Farrar JE, Nater M, Caywood E, et al. (September 2008).
822:
can also be used to treat severe anemia in DBA. Periods of
1859:
Pospisilova D, Cmejlova J, Hak J, Adam T, Cmejla R (2007).
1580:
Gazda H. T.; Sheen M. R.; Vlachos A.; et al. (2008).
1731:
Gazda H, Lipton JM, Willig TN, et al. (April 2001).
2318:
GeneReviews/NCBI/NIH/UW entry on
Diamond–Blackfan Anemia
774:
A diagnosis of DBA is made on the basis of anemia, low
1982:
Diamond LK, Blackfan KD (1938). "Hypoplastic anemia".
2215:
1776:(10th ed.). Lippincott Williams & Wilkins.
96:), which are usually normal. This is in contrast to
3125:
3107:
3038:
3020:
2984:
2977:
2911:
2831:
2771:
2722:
2618:
2609:
2482:
2467:
2420:
2411:
2404:
2382:
2375:
2289:
2219:
1404:
1402:
1400:
1398:
1396:
1394:
1392:
678:A subsequent study of families with no evidence of
45:
37:
32:
1166:"The Genetic Landscape of Diamond-Blackfan Anemia"
1772:Williamson, MA; Snyder, LM. (2015). "Chapter 9".
906:
904:
902:
900:
686:Malformations are seen more frequently with DBA6
112:, where all cell lines are affected resulting in
3173:Disorders of synthesis of DNA, RNA, and proteins
763:Typically, a diagnosis of DBA is made through a
2958:Leukoencephalopathy with vanishing white matter
709:(MFD) phenotypes are heterogeneous, including
2884:
2349:
1642:
1640:
8:
2498:Glucose-6-phosphate dehydrogenase deficiency
1774:Wallach's Interpretation of Diagnostic Tests
1677:
1675:
1673:
1575:
1573:
1571:
1217:
1215:
1213:
1211:
1209:
1084:Genetic and Rare Diseases Information Center
936:Tchernia, Gilbert; Delauney, J (June 2000).
127:Diamond–Blackfan anemia is characterized by
2940:Fragile X-associated tremor/ataxia syndrome
1103:
1101:
2981:
2891:
2877:
2869:
2854:Hereditary persistence of fetal hemoglobin
2615:
2479:
2417:
2408:
2379:
2356:
2342:
2334:
2216:
721:which encodes a direct binding partner of
205:. The disease is characterized by genetic
29:
2806:Mean corpuscular hemoglobin concentration
2628:Warm antibody autoimmune hemolytic anemia
2191:
2105:
1966:
1917:
1876:
1748:
1707:
1605:
1551:
1459:
1364:
1315:
1258:
1189:
1134:
1030:
989:
979:
739:The phenotype of DBA patients suggests a
1951:"Anaemia of infancy and early childhood"
232:
2323:OMIM entries on Diamond–Blackfan Anemia
896:
1586:The American Journal of Human Genetics
3099:Multiple familial trichoepithelioma 1
7:
2515:triosephosphate isomerase deficiency
2015:10.1001/archpedi.1961.02080010405019
1688:American Journal of Medical Genetics
190:mode of inheritance with incomplete
150:. This usually develops during the
2670:paroxysmal nocturnal hemoglobinuria
2638:Donath–Landsteiner hemolytic anemia
1906:Dimensions of Critical Care Nursing
1662:Online Mendelian Inheritance in Man
1647:Online Mendelian Inheritance in Man
1629:Online Mendelian Inheritance in Man
855:anemia in 1938. Responsiveness to
3052:X-linked spinal muscular atrophy 2
1170:American Journal of Human Genetics
962:Pelagiadis I, et al. (2023).
25:
2679:Microangiopathic hemolytic anemia
2650:Mixed autoimmune hemolytic anemia
1413:(6th ed.). Wiley-Blackwell.
1239:Journal of Clinical Investigation
142:counts) with decreased erythroid
98:Shwachman–Bodian–Diamond syndrome
2710:Hemolytic disease of the newborn
1968:10.1097/00005792-193615030-00001
1919:10.1097/00003465-200401000-00002
1811:10.1097/00043426-200108000-00015
1409:Hoffbrand, AV; Moss PAH (2011).
2978:Posttranslational modification
2905:posttranslational modification
2643:Paroxysmal cold hemoglobinuria
881:List of hematologic conditions
1:
3133:Multiple sulfatase deficiency
3012:3-Methylglutaconic aciduria 5
915:(8th ed.). McGraw-Hill.
2594:Southeast Asian ovalocytosis
2582:Minkowski–Chauffard syndrome
1544:10.1182/blood-2008-02-140012
1288:Pediatric Blood & Cancer
104:defect results primarily in
2945:Premature ovarian failure 1
1834:Bone Marrow Transplantation
1357:10.1016/j.ygeno.2021.04.020
851:, who described congenital
828:Bone marrow transplantation
790:levels in red blood cells.
670:) gene on chromosome 19 at
3194:
3063:Johanson–Blizzard syndrome
2703:Drug-induced nonautoimmune
2684:Thrombotic microangiopathy
2510:pyruvate kinase deficiency
1799:J. Pediatr. Hematol. Oncol
1598:10.1016/j.ajhg.2008.11.004
1182:10.1016/j.ajhg.2018.10.027
1054:Reference, Genetics Home.
707:mandibulofacial dysostosis
3068:Von Hippel–Lindau disease
3004:Creutzfeldt–Jakob disease
2689:Hemolytic–uremic syndrome
2601:Hereditary stomatocytosis
2589:Hereditary elliptocytosis
1080:"Diamond-Blackfan Anemia"
1056:"Diamond-Blackfan anemia"
938:"Diamond–Blackfan anemia"
703:Treacher Collins syndrome
641:chromosomal translocation
158:abnormalities, including
76:that usually presents in
3143:Ehlers–Danlos syndrome 6
2577:Hereditary spherocytosis
2193:10.1182/blood.V97.7.2145
1949:Hugh W. Josephs (1936).
1750:10.1182/blood.V97.7.2145
981:10.3390/children10111812
715:(the known DBA10 gene),
174:and other malignancies.
3085:Deubiquitinating enzyme
2969:Retinitis pigmentosa 33
2923:Diamond–Blackfan anemia
2782:Mean corpuscular volume
2746:Diamond–Blackfan anemia
2698:Drug-induced autoimmune
2633:Cold agglutinin disease
2439:Plummer–Vinson syndrome
2330:Genetics Home Reference
2328:Diamond–Blackfan anemia
2304:Diamond–Blackfan anemia
1900:Brannan, Sandy (2004).
1060:Genetics Home Reference
60:Diamond–Blackfan anemia
33:Diamond–Blackfan anemia
18:Diamond-Blackfan anemia
3089:Machado–Joseph disease
2434:Iron-deficiency anemia
1878:10.3324/haematol.11498
393:32S to 5.8S/28S(cite)
2753:Pure red cell aplasia
2520:hexokinase deficiency
1411:Essential Haematology
886:Pure red cell aplasia
865:ribosomal protein S19
798:for mutations in the
3094:Aneurysmal bone cyst
2999:Huntington's disease
2758:Sideroblastic anemia
2566:Hemoglobin C disease
2452:Megaloblastic anemia
2098:10.1136/jmg.34.9.779
1955:Medicine (Baltimore)
1912:(1): 4–7, quiz 8–9.
1700:10.1002/ajmg.a.36633
752:protein biosynthesis
3138:Hyperproinsulinemia
2994:Alzheimer's disease
2557:Sickle cell disease
913:Williams Hematology
788:adenosine deaminase
237:
166:malformations, and
2935:Fragile X syndrome
2844:Sulfhemoglobinemia
2290:External resources
2051:10.1038/ng0897-368
1840:(Suppl 1): 88–90.
1497:10.1002/humu.20608
1127:10.1002/humu.21383
1032:10.1002/humu.20874
820:Blood transfusions
818:waned in others.
769:bone marrow biopsy
233:
188:autosomal dominant
123:Signs and symptoms
3155:
3154:
3151:
3150:
3078:Angelman syndrome
3022:Protein targeting
2954:Initiation factor
2866:
2865:
2862:
2861:
2849:Reticulocytopenia
2839:Methemoglobinemia
2827:
2826:
2718:
2717:
2658:
2657:
2457:Pernicious anemia
2400:
2399:
2392:Polycythemia vera
2313:
2312:
2003:Am. J. Dis. Child
1984:Am. J. Dis. Child
1440:Am. J. Hum. Genet
1420:978-1-4051-9890-5
1300:10.1002/pbc.24944
637:
636:
341:30S to 18S(cite)
295:30S to 18S(cite)
94:white blood cells
80:. DBA causes low
57:
56:
27:Medical condition
16:(Redirected from
3185:
3178:Aplastic anemias
2982:
2893:
2886:
2879:
2870:
2616:
2530:hemoglobinopathy
2480:
2418:
2409:
2380:
2358:
2351:
2344:
2335:
2217:
2206:
2205:
2195:
2170:
2164:
2163:
2126:
2120:
2119:
2109:
2077:
2071:
2070:
2033:
2027:
2026:
1998:
1992:
1991:
1979:
1973:
1972:
1970:
1946:
1940:
1939:
1921:
1897:
1891:
1890:
1880:
1856:
1850:
1849:
1829:
1823:
1822:
1794:
1788:
1787:
1769:
1763:
1762:
1752:
1728:
1722:
1721:
1711:
1679:
1668:
1659:
1653:
1644:
1635:
1626:
1620:
1619:
1609:
1577:
1566:
1565:
1555:
1523:
1517:
1516:
1480:
1474:
1473:
1463:
1431:
1425:
1424:
1406:
1387:
1386:
1368:
1351:(4): 1895–1905.
1336:
1330:
1329:
1319:
1294:(7): 1319–1321.
1279:
1273:
1272:
1262:
1251:10.1172/jci63597
1245:(7): 2439–2443.
1230:
1224:
1219:
1204:
1203:
1193:
1160:
1149:
1148:
1138:
1105:
1096:
1095:
1093:
1091:
1076:
1070:
1069:
1067:
1066:
1051:
1045:
1044:
1034:
1010:
1004:
1003:
993:
983:
959:
953:
952:
950:
948:
942:
933:
927:
926:
908:
849:Kenneth Blackfan
845:Louis K. Diamond
784:fetal hemoglobin
445:32S to 5.8S/28S
419:32S to 5.8S/28S
238:
144:progenitor cells
30:
21:
3193:
3192:
3188:
3187:
3186:
3184:
3183:
3182:
3158:
3157:
3156:
3147:
3121:
3103:
3034:
3016:
2986:Protein folding
2973:
2907:
2897:
2867:
2858:
2823:
2767:
2726:
2714:
2654:
2605:
2471:
2463:
2396:
2371:
2369:red blood cells
2362:
2314:
2309:
2308:
2285:
2284:
2228:
2214:
2209:
2172:
2171:
2167:
2128:
2127:
2123:
2079:
2078:
2074:
2035:
2034:
2030:
2000:
1999:
1995:
1981:
1980:
1976:
1948:
1947:
1943:
1899:
1898:
1894:
1858:
1857:
1853:
1831:
1830:
1826:
1796:
1795:
1791:
1784:
1771:
1770:
1766:
1730:
1729:
1725:
1681:
1680:
1671:
1660:
1656:
1645:
1638:
1627:
1623:
1579:
1578:
1569:
1525:
1524:
1520:
1491:(12): 1178–82.
1482:
1481:
1477:
1433:
1432:
1428:
1421:
1408:
1407:
1390:
1338:
1337:
1333:
1281:
1280:
1276:
1232:
1231:
1227:
1220:
1207:
1162:
1161:
1152:
1121:(12): 1269–79.
1107:
1106:
1099:
1089:
1087:
1078:
1077:
1073:
1064:
1062:
1053:
1052:
1048:
1012:
1011:
1007:
961:
960:
956:
946:
944:
940:
935:
934:
930:
923:
910:
909:
898:
894:
877:
857:corticosteroids
841:
811:Corticosteroids
808:
786:, and elevated
761:
737:
735:Molecular basis
180:
125:
100:, in which the
28:
23:
22:
15:
12:
11:
5:
3191:
3189:
3181:
3180:
3175:
3170:
3160:
3159:
3153:
3152:
3149:
3148:
3146:
3145:
3140:
3135:
3129:
3127:
3123:
3122:
3120:
3119:
3113:
3111:
3105:
3104:
3102:
3101:
3096:
3091:
3081:
3080:
3075:
3070:
3065:
3055:
3054:
3044:
3042:
3036:
3035:
3033:
3032:
3030:I-cell disease
3026:
3024:
3018:
3017:
3015:
3014:
3007:
3006:
3001:
2996:
2990:
2988:
2979:
2975:
2974:
2972:
2971:
2961:
2960:
2950:
2949:
2948:
2947:
2942:
2937:
2925:
2915:
2913:
2909:
2908:
2898:
2896:
2895:
2888:
2881:
2873:
2864:
2863:
2860:
2859:
2857:
2856:
2851:
2846:
2841:
2835:
2833:
2829:
2828:
2825:
2824:
2822:
2821:
2820:
2819:
2814:
2802:
2801:
2800:
2795:
2790:
2777:
2775:
2769:
2768:
2766:
2765:
2760:
2755:
2748:
2743:
2741:Fanconi anemia
2734:
2732:
2720:
2719:
2716:
2715:
2713:
2712:
2706:
2705:
2700:
2694:
2693:
2692:
2691:
2681:
2675:
2674:
2673:
2672:
2659:
2656:
2655:
2653:
2652:
2647:
2646:
2645:
2635:
2630:
2624:
2622:
2613:
2607:
2606:
2604:
2603:
2598:
2597:
2596:
2586:
2585:
2584:
2568:
2563:
2554:
2553:
2552:
2547:
2542:
2525:
2524:
2523:
2522:
2517:
2512:
2500:
2488:
2486:
2477:
2465:
2464:
2462:
2461:
2460:
2459:
2444:
2443:
2442:
2441:
2426:
2424:
2415:
2406:
2402:
2401:
2398:
2397:
2395:
2394:
2388:
2386:
2377:
2373:
2372:
2363:
2361:
2360:
2353:
2346:
2338:
2332:
2331:
2325:
2320:
2311:
2310:
2307:
2306:
2294:
2293:
2291:
2287:
2286:
2283:
2282:
2271:
2260:
2245:
2229:
2224:
2223:
2221:
2220:Classification
2213:
2212:External links
2210:
2208:
2207:
2186:(7): 2145–50.
2165:
2121:
2072:
2028:
2009:(3): 403–415.
1993:
1974:
1961:(3): 307–451.
1941:
1892:
1851:
1824:
1789:
1782:
1764:
1743:(7): 2145–50.
1723:
1669:
1654:
1636:
1621:
1567:
1538:(5): 1582–92.
1518:
1475:
1452:10.1086/510020
1426:
1419:
1388:
1331:
1274:
1225:
1205:
1176:(6): 930–947.
1150:
1115:Human Mutation
1097:
1071:
1046:
1005:
954:
928:
922:978-0071621519
921:
895:
893:
890:
889:
888:
883:
876:
873:
840:
837:
832:adverse events
807:
804:
760:
757:
736:
733:
635:
634:
632:
612:
610:
608:
606:
602:
601:
599:
594:
589:
584:
581:
577:
576:
573:
568:
563:
558:
555:
551:
550:
547:
542:
537:
532:
529:
525:
524:
521:
516:
511:
506:
503:
499:
498:
495:
490:
485:
480:
477:
473:
472:
469:
464:
459:
454:
451:
447:
446:
443:
438:
433:
428:
425:
421:
420:
417:
412:
407:
402:
399:
395:
394:
391:
386:
381:
376:
373:
369:
368:
365:
360:
355:
350:
347:
343:
342:
339:
334:
329:
324:
321:
317:
316:
314:
312:
307:
304:
301:
297:
296:
293:
288:
283:
278:
275:
271:
270:
264:
259:
254:
249:
244:
179:
176:
140:red blood cell
124:
121:
110:Fanconi anemia
82:red blood cell
55:
54:
49:
43:
42:
39:
35:
34:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
3190:
3179:
3176:
3174:
3171:
3169:
3168:Ribosomopathy
3166:
3165:
3163:
3144:
3141:
3139:
3136:
3134:
3131:
3130:
3128:
3124:
3118:
3115:
3114:
3112:
3110:
3106:
3100:
3097:
3095:
3092:
3090:
3086:
3083:
3082:
3079:
3076:
3074:
3071:
3069:
3066:
3064:
3060:
3057:
3056:
3053:
3049:
3046:
3045:
3043:
3041:
3037:
3031:
3028:
3027:
3025:
3023:
3019:
3013:
3010:chaperonins:
3009:
3008:
3005:
3002:
3000:
2997:
2995:
2992:
2991:
2989:
2987:
2983:
2980:
2976:
2970:
2966:
2963:
2962:
2959:
2955:
2952:
2951:
2946:
2943:
2941:
2938:
2936:
2933:
2932:
2931:
2930:
2926:
2924:
2920:
2917:
2916:
2914:
2910:
2906:
2902:
2899:Disorders of
2894:
2889:
2887:
2882:
2880:
2875:
2874:
2871:
2855:
2852:
2850:
2847:
2845:
2842:
2840:
2837:
2836:
2834:
2830:
2818:
2815:
2813:
2810:
2809:
2808:
2807:
2803:
2799:
2796:
2794:
2791:
2789:
2786:
2785:
2784:
2783:
2779:
2778:
2776:
2774:
2770:
2764:
2763:Myelophthisic
2761:
2759:
2756:
2754:
2750:
2749:
2747:
2744:
2742:
2738:
2735:
2733:
2730:
2725:
2721:
2711:
2708:
2707:
2704:
2701:
2699:
2696:
2695:
2690:
2687:
2686:
2685:
2682:
2680:
2677:
2676:
2671:
2668:
2667:
2666:
2665:
2661:
2660:
2651:
2648:
2644:
2641:
2640:
2639:
2636:
2634:
2631:
2629:
2626:
2625:
2623:
2621:
2617:
2614:
2612:
2608:
2602:
2599:
2595:
2592:
2591:
2590:
2587:
2583:
2580:
2579:
2578:
2575:
2573:
2569:
2567:
2564:
2562:
2558:
2555:
2551:
2548:
2546:
2543:
2541:
2538:
2537:
2536:
2533:
2531:
2527:
2526:
2521:
2518:
2516:
2513:
2511:
2508:
2507:
2506:
2505:
2501:
2499:
2496:
2494:
2490:
2489:
2487:
2485:
2481:
2478:
2475:
2470:
2466:
2458:
2455:
2454:
2453:
2449:
2446:
2445:
2440:
2437:
2436:
2435:
2431:
2428:
2427:
2425:
2423:
2419:
2416:
2414:
2410:
2407:
2403:
2393:
2390:
2389:
2387:
2385:
2381:
2378:
2374:
2370:
2366:
2359:
2354:
2352:
2347:
2345:
2340:
2339:
2336:
2329:
2326:
2324:
2321:
2319:
2316:
2315:
2305:
2301:
2300:
2296:
2295:
2292:
2288:
2281:
2277:
2276:
2272:
2270:
2266:
2265:
2261:
2259:
2255:
2254:
2250:
2246:
2244:
2240:
2239:
2235:
2231:
2230:
2227:
2222:
2218:
2211:
2203:
2199:
2194:
2189:
2185:
2181:
2177:
2169:
2166:
2161:
2157:
2153:
2149:
2145:
2141:
2138:(2): 168–75.
2137:
2133:
2125:
2122:
2117:
2113:
2108:
2103:
2099:
2095:
2092:(9): 779–82.
2091:
2087:
2086:J. Med. Genet
2083:
2076:
2073:
2068:
2064:
2060:
2056:
2052:
2048:
2045:(4): 368–71.
2044:
2040:
2032:
2029:
2024:
2020:
2016:
2012:
2008:
2004:
1997:
1994:
1989:
1985:
1978:
1975:
1969:
1964:
1960:
1956:
1952:
1945:
1942:
1937:
1933:
1929:
1925:
1920:
1915:
1911:
1907:
1903:
1896:
1893:
1888:
1884:
1879:
1874:
1870:
1866:
1865:Haematologica
1862:
1855:
1852:
1847:
1843:
1839:
1835:
1828:
1825:
1820:
1816:
1812:
1808:
1805:(6): 377–82.
1804:
1800:
1793:
1790:
1785:
1783:9781451191769
1779:
1775:
1768:
1765:
1760:
1756:
1751:
1746:
1742:
1738:
1734:
1727:
1724:
1719:
1715:
1710:
1705:
1701:
1697:
1694:(9): 2240–9.
1693:
1689:
1685:
1678:
1676:
1674:
1670:
1667:
1663:
1658:
1655:
1652:
1648:
1643:
1641:
1637:
1634:
1630:
1625:
1622:
1617:
1613:
1608:
1603:
1599:
1595:
1592:(6): 769–80.
1591:
1587:
1583:
1576:
1574:
1572:
1568:
1563:
1559:
1554:
1549:
1545:
1541:
1537:
1533:
1529:
1522:
1519:
1514:
1510:
1506:
1502:
1498:
1494:
1490:
1486:
1479:
1476:
1471:
1467:
1462:
1457:
1453:
1449:
1446:(6): 1110–8.
1445:
1441:
1437:
1430:
1427:
1422:
1416:
1412:
1405:
1403:
1401:
1399:
1397:
1395:
1393:
1389:
1384:
1380:
1376:
1372:
1367:
1362:
1358:
1354:
1350:
1346:
1342:
1335:
1332:
1327:
1323:
1318:
1313:
1309:
1305:
1301:
1297:
1293:
1289:
1285:
1278:
1275:
1270:
1266:
1261:
1256:
1252:
1248:
1244:
1240:
1236:
1229:
1226:
1223:
1218:
1216:
1214:
1212:
1210:
1206:
1201:
1197:
1192:
1187:
1183:
1179:
1175:
1171:
1167:
1159:
1157:
1155:
1151:
1146:
1142:
1137:
1132:
1128:
1124:
1120:
1116:
1112:
1104:
1102:
1098:
1085:
1081:
1075:
1072:
1061:
1057:
1050:
1047:
1042:
1038:
1033:
1028:
1024:
1020:
1016:
1009:
1006:
1001:
997:
992:
987:
982:
977:
973:
969:
965:
958:
955:
939:
932:
929:
924:
918:
914:
907:
905:
903:
901:
897:
891:
887:
884:
882:
879:
878:
874:
872:
870:
866:
862:
858:
854:
850:
846:
838:
836:
833:
829:
825:
821:
817:
812:
805:
803:
801:
797:
791:
789:
785:
781:
777:
772:
770:
766:
758:
756:
753:
749:
745:
742:
741:hematological
734:
732:
730:
729:
724:
720:
719:
714:
713:
708:
704:
699:
697:
696:
691:
690:
684:
681:
676:
673:
669:
666:protein S19 (
665:
661:
657:
654:
650:
646:
645:chromosome 19
642:
633:
631:
629:
624:
620:
616:
613:
611:
609:
607:
604:
603:
600:
598:
595:
593:
590:
588:
585:
582:
579:
578:
574:
572:
569:
567:
564:
562:
559:
556:
553:
552:
548:
546:
543:
541:
538:
536:
533:
530:
527:
526:
522:
520:
517:
515:
512:
510:
507:
504:
501:
500:
496:
494:
491:
489:
486:
484:
481:
478:
475:
474:
470:
468:
465:
463:
460:
458:
455:
452:
449:
448:
444:
442:
439:
437:
434:
432:
429:
426:
423:
422:
418:
416:
413:
411:
408:
406:
403:
400:
397:
396:
392:
390:
387:
385:
382:
380:
377:
374:
371:
370:
366:
364:
361:
359:
356:
354:
351:
348:
345:
344:
340:
338:
335:
333:
330:
328:
325:
322:
319:
318:
315:
313:
311:
308:
305:
302:
299:
298:
294:
292:
289:
287:
284:
282:
279:
276:
273:
272:
269:(cite)(cite)
268:
265:
263:
260:
258:
255:
253:
250:
248:
245:
243:
240:
239:
236:
231:
228:
224:
220:
216:
212:
208:
207:heterogeneity
204:
200:
195:
193:
189:
185:
177:
175:
173:
169:
165:
161:
157:
153:
149:
145:
141:
137:
134:
130:
122:
120:
117:
115:
111:
107:
103:
99:
95:
91:
87:
83:
79:
75:
72:
69:
65:
61:
53:
50:
48:
44:
40:
36:
31:
19:
3073:3-M syndrome
2927:
2922:
2812:normochromic
2804:
2780:
2745:
2662:
2570:
2528:
2502:
2491:
2384:Polycythemia
2297:
2273:
2262:
2247:
2232:
2183:
2179:
2168:
2144:10.1038/5951
2135:
2131:
2124:
2089:
2085:
2075:
2042:
2038:
2031:
2006:
2002:
1996:
1987:
1983:
1977:
1958:
1954:
1944:
1909:
1905:
1895:
1871:(5): e66–7.
1868:
1864:
1854:
1837:
1833:
1827:
1802:
1798:
1792:
1773:
1767:
1740:
1736:
1726:
1691:
1687:
1657:
1624:
1589:
1585:
1535:
1531:
1521:
1488:
1484:
1478:
1443:
1439:
1429:
1410:
1348:
1344:
1334:
1291:
1287:
1277:
1242:
1238:
1228:
1173:
1169:
1118:
1114:
1088:. Retrieved
1083:
1074:
1063:. Retrieved
1059:
1049:
1025:(3): 321–7.
1022:
1018:
1008:
974:(11): 1812.
971:
967:
957:
945:. Retrieved
931:
912:
868:
861:longitudinal
842:
809:
796:genetic test
792:
780:macrocytosis
776:reticulocyte
773:
762:
738:
726:
716:
710:
700:
693:
687:
685:
679:
677:
667:
649:X chromosome
638:
625:
266:
261:
256:
251:
246:
241:
234:
226:
222:
218:
214:
196:
181:
168:cleft palate
160:craniofacial
126:
118:
114:pancytopenia
63:
59:
58:
2912:Translation
2901:translation
2817:hypochromic
2773:Blood tests
2535:Thalassemia
2493:enzymopathy
2422:Nutritional
943:. Orpha.net
853:hypoplastic
782:, elevated
765:blood count
748:translation
698:mutations.
672:cytogenetic
653:cytogenetic
575:45S to 32S
549:30S to 18S
523:30S to 18S
497:30S to 18S
471:30S to 18S
427:1p36.1-p35
367:30S to 18S
186:suggest an
148:bone marrow
106:neutropenia
102:bone marrow
38:Other names
3162:Categories
2798:macrocytic
2793:microcytic
2788:normocytic
2751:Acquired:
2737:Hereditary
2504:glycolysis
2484:Hereditary
2299:Patient UK
2132:Nat. Genet
2039:Nat. Genet
1990:: 464–467.
1485:Hum. Mutat
1065:2018-04-17
1019:Hum. Mutat
892:References
643:involving
375:3q29-qter
323:10q22-q23
267:disruption
257:phenotype
247:chromosome
192:penetrance
164:urogenital
156:congenital
133:macrocytic
129:normocytic
68:congenital
52:Hematology
3040:Ubiquitin
2469:Hemolytic
1383:233277974
1308:1545-5017
947:1 January
824:remission
806:Treatment
759:Diagnosis
744:stem cell
692:and DBA7
626:SLC49A1 (
303:8p23-p22
235:DBA types
199:ribosomal
184:pedigrees
90:platelets
71:erythroid
47:Specialty
2919:Ribosome
2727:(mostly
2724:Aplastic
2664:membrane
2611:Acquired
2572:membrane
2472:(mostly
2365:Diseases
2202:11264183
2160:26664929
2023:13722603
1936:22153662
1928:14734894
1887:17562599
1819:11563775
1759:11264183
1718:24942156
1664:(OMIM):
1649:(OMIM):
1631:(OMIM):
1616:19061985
1562:18535205
1513:22482024
1505:17647292
1470:17186470
1375:33862179
1345:Genomics
1326:24453067
1269:22706301
1200:30503522
1145:20960466
1041:19191325
1000:38002903
991:10670567
968:Children
875:See also
816:efficacy
664:ribosome
647:and the
605:"other"
306:unknown
277:19q13.2
252:genotype
201:protein
178:Genetics
172:leukemia
152:neonatal
92:and the
84:counts (
2280:D029503
2152:9988267
2116:9321770
2107:1051068
2067:6972423
2059:9241274
1846:8374573
1709:4149220
1607:2668101
1553:2518874
1461:1698708
1366:8266734
1317:4684094
1260:3386831
1191:6288280
1136:4485435
1090:12 June
839:History
660:Linkage
656:anomaly
401:1p22.1
262:protein
146:in the
78:infancy
74:aplasia
66:) is a
2729:normo-
2474:normo-
2448:Macro-
2430:Micro-
2413:Anemia
2269:105650
2258:284.01
2200:
2158:
2150:
2114:
2104:
2065:
2057:
2021:
1934:
1926:
1885:
1844:
1817:
1780:
1757:
1716:
1706:
1666:604174
1651:603701
1633:603632
1614:
1604:
1560:
1550:
1511:
1503:
1468:
1458:
1417:
1381:
1373:
1363:
1324:
1314:
1306:
1267:
1257:
1198:
1188:
1143:
1133:
1039:
998:
988:
919:
867:gene (
802:gene.
767:and a
725:, and
705:(TCS)/
628:FLVCR1
592:615909
587:603633
580:DBA13
566:615550
561:604174
554:DBA12
540:614900
535:603704
531:17p13
528:DBA11
514:613309
509:603701
502:DBA10
488:613308
483:603632
462:612563
457:603658
436:612562
431:604175
410:612561
405:603634
389:RPL35A
384:612528
379:180468
358:612527
353:180472
332:610629
327:602412
310:606129
286:105650
281:603474
225:, and
136:anemia
108:, and
86:anemia
3126:Other
3117:OFC10
2965:snRNP
2832:Other
2561:trait
2550:delta
2540:alpha
2243:D61.0
2180:Blood
2156:S2CID
2063:S2CID
1932:S2CID
1737:Blood
1532:Blood
1509:S2CID
1379:S2CID
941:(PDF)
869:RPS19
800:RPS19
728:RPS28
723:RPS26
712:RPS26
695:RPL11
680:RPS19
668:RPS19
623:GATA1
619:RPS28
597:RPS29
571:RPL15
557:3p24
545:RPL26
519:RPS26
493:RPS10
476:DBA9
453:2p25
450:DBA8
441:RPL11
424:DBA7
398:DBA6
372:DBA5
363:RPS17
346:DBA4
337:RPS24
320:DBA3
300:DBA2
291:RPS19
274:DBA1
227:RPL11
223:RPS26
215:RPS19
211:GATA1
203:genes
182:Most
138:(low
3109:SUMO
2929:FMR1
2903:and
2620:AIHA
2545:beta
2275:MeSH
2264:OMIM
2253:9-CM
2198:PMID
2148:PMID
2112:PMID
2055:PMID
2019:PMID
1924:PMID
1883:PMID
1842:PMID
1815:PMID
1778:ISBN
1755:PMID
1714:PMID
1692:164A
1612:PMID
1558:PMID
1501:PMID
1466:PMID
1415:ISBN
1371:PMID
1322:PMID
1304:ISSN
1265:PMID
1196:PMID
1141:PMID
1092:2023
1037:PMID
996:PMID
949:2010
917:ISBN
847:and
750:and
718:TSR2
689:RPL5
615:TSR2
583:14q
505:12q
467:RPS7
415:RPL5
349:15q
242:name
219:RPL5
2367:of
2249:ICD
2234:ICD
2188:doi
2140:doi
2102:PMC
2094:doi
2047:doi
2011:doi
2007:102
1963:doi
1914:doi
1873:doi
1807:doi
1745:doi
1704:PMC
1696:doi
1602:PMC
1594:doi
1548:PMC
1540:doi
1536:112
1493:doi
1456:PMC
1448:doi
1361:PMC
1353:doi
1349:113
1312:PMC
1296:doi
1255:PMC
1247:doi
1243:122
1186:PMC
1178:doi
1174:103
1131:PMC
1123:doi
1027:doi
986:PMC
976:doi
658:.
479:6p
131:or
64:DBA
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3059:E3
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3048:E1
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