WordNet

very hard native crystalline carbon valued as a gem (同)adamant
a transparent piece of diamond that has been cut and polished and is valued as a precious gem
a playing card in the minor suit that has one or more red rhombuses on it; "he led a small diamond"; "diamonds were trumps"
a deficiency of red blood cells (同)anaemia
a lack of vitality (同)anaemia
genus of terrestrial or lithophytic ferns having pinnatifid fronds; chiefly of tropical America (同)genus Anemia

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『ダイヤモンド』,ダイヤ,金剛石 / ガラス切り / 菱(ひし)形[のもの] / (カードの)ダイヤの札 / (野球の)内野;野球場 / ダイヤモンド製の;ダイヤモンド入りの / ダイヤモンド形の / ダイヤモンド記念の(結婚記念日などが75回目,または60回目)

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2018/02/04 22:07:31」(JST)

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Diamond–Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy.^[3] DBA causes low red blood cell counts (anemia), without substantially affecting the other blood components (the platelets and the white blood cells), which are usually normal. This is in contrast to Shwachman–Bodian–Diamond syndrome, in which the bone marrow defect results primarily in neutropenia, and Fanconi anemia, where all cell lines are affected resulting in pancytopenia.

A variety of other congenital abnormalities may also occur in DBA.

Signs/symptoms

Diamond–Blackfan anemia is characterized by normocytic or macrocytic anemia (low red blood cell counts) with decreased erythroid progenitor cells in the bone marrow. This usually develops during the neonatal period. About 47% of affected individuals also have a variety of congenital abnormalities, including craniofacial malformations, thumb or upper limb abnormalities, cardiac defects, urogenital malformations, and cleft palate. Low birth weight and generalized growth delay are sometimes observed. DBA patients have a modest risk of developing leukemia and other malignancies.

Genetics

Most pedigrees suggest an autosomal dominant mode of inheritance^[1] with incomplete penetrance.^[4] Approximately 10–25% of DBA occurs with a family history of disease.

About 25-50% of the causes of DBA have been tied to abnormal ribosomal protein genes.^[1]^[5] The disease is characterized by genetic heterogeneity, affecting different ribosomal gene loci:^[6] Exceptions to this paradigm have been demonstrated, such as with rare mutations of transcription factor GATA1^[7]^[8] and advanced alternative splicing of a gene involved in iron metabolism, SLC49A1 (FLVCR1).^[5]^[9]

**DBA types**
name	chromosome	genotype^[6]	phenotype	protein	disruption(cite)(cite)
DBA1^[6]	19q13.2	603474	105650	RPS19	30S to 18S^[10]^:291(cite)
DBA2	8p23-p22	unknown	606129
DBA3	10q22-q23	602412	610629	RPS24^[11]	30S to 18S^[10]^:291(cite)
DBA4	15q	180472	612527	RPS17^[12]	30S to 18S^[10]^:291
DBA5	3q29-qter	180468	612528	RPL35A^[13]	32S to 5.8S/28S^[10]^:291(cite)
DBA6	1p22.1	603634	612561	RPL5^[14]	32S to 5.8S/28S^[10]^:291
DBA7	1p36.1-p35	604175	612562	RPL11^[14]	32S to 5.8S/28S^[10]^:291
DBA8	2p25	603658	612563	RPS7^[14]	30S to 18S^[10]^:291
DBA9	6p	603632	613308	RPS10^[6]	30S to 18S^[15]
DBA10	12q	603701	613309	RPS26	30S to 18S^[16]
DBA11	17p13	603704	614900	RPL26	30S to 18S^[16]
DBA12	3p24	604174	615550	RPL15	45S to 32S^[17]
DBA13	14q	603633	615909	RPS29
"other"				TSR2,^[18]RPS28,^[18] GATA1 SLC49A1 (FLVCR1)^[5]

In 1997, a patient was identified who carried a rare balanced chromosomal translocation involving chromosome 19 and the X chromosome. This suggested that the affected gene might lie in one of the two regions that were disrupted by this cytogenetic anomaly. Linkage 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 ribosome protein S19 (RPS19) gene on chromosome 19 at cytogenetic 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.

A subsequent study of families with no evidence of RPS19 mutations determined that 18 of 38 families showed evidence for involvement of an unknown gene on chromosome 8 at 8p23.3-8p22.^[19] The precise genetic defect in these families has not yet been delineated.

Malformations are seen more frequently with DBA6 RPL5 and DBA7 RPL11 mutations.^[4]

The genetic abnormalities underpinning the combination of DBA with Treacher Collins syndrome (TCS)/mandibulofacial dysostosis (MFD) phenotypes are heterogeneous, including RPS26 (the known DBA10 gene), TSR2 which encodes a direct binding partner of RPS26, and RPS28.^[18]

Molecular basis

The phenotype of DBA patients suggests a hematological stem cell defect specifically affecting the erythroid progenitor population. Loss of ribosomal function might be predicted to affect translation and protein biosynthesis 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.

Diagnosis

Typically, a diagnosis of DBA is made through a blood count and a bone marrow biopsy.

A diagnosis of DBA is made on the basis of anemia, low reticulocyte (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, macrocytosis, elevated fetal hemoglobin, and elevated adenosine deaminase levels in red blood cells.^[20]

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.^{[citation needed]}About 20–25% of DBA patients may be identified with a genetic test for mutations in the RPS19 gene.

Treatment

Corticosteroids 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.^[21] Some patients remained responsive to steroids, while efficacy waned in others. Blood transfusions can also be used to treat severe anemia in DBA. Periods of remission may occur, during which transfusions and steroid treatments are not required. Bone marrow transplantation (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, adverse events from BMTs may exceed those from iron overloading.^[22] A 2007 study^[23] showed the efficacy of leucine and isoleucine supplementation in one patient. Larger studies are being conducted.^{[citation needed]}

History

First noted by Hugh W. Josephs in 1936,^[1]^:485^[24] the condition is however named for the pediatricians Louis K. Diamond and Kenneth Blackfan, who described congenital hypoplastic anemia in 1938.^[25] Responsiveness to corticosteroids was reported in 1951.^[1]^:485 In 1961, Diamond and colleagues presented longitudinal data on 30 patients and noted an association with skeletal abnormalities.^[26] In 1997, a region on chromosome 19 was determined to carry a gene mutated in some DBA.^[27]^[28] In 1999, mutations in the ribosomal protein S19 gene (RPS19) were found to be associated with disease in 42 of 172 DBA patients.^[29] In 2001, a second DBA gene was localized to a region of chromosome 8, and further genetic heterogeneity was inferred.^[30] Additional genes were subsequently identified.^[6]

Notable cases

A girl named Audrey Nethery of Louisville, Kentucky has a large online following from her singing and dancing videos and has brought public attention to the very rare disease.^[31] "The tiny dancer’s zest for the feel-happy, cool move packed, music pumping workout (Zumba) has inspired millions of people to fall in love with her. Subsequently, all the unexpected attention on Audrey has given her family a great opportunity to raise much needed awareness and funds for Diamond Blackfan Anemia (DBA)."^[32]^{[citation needed]}

References

^ ^a ^b ^c ^d ^e Kaushansky, K; Lichtman, M; Beutler, E; Kipps, T; Prchal, J; Seligsohn, U. (2010). "35". Williams Hematology (8th ed.). McGraw-Hill. ISBN 978-0071621519.
^ Tchernia, Gilbert; Delauney, J (June 2000). "Diamond–Blackfan anemia" (PDF). Orpha.net. Retrieved 1 January 2010.
^ Cmejla R, Cmejlova J, Handrkova H, et al. (February 2009). "Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond–Blackfan anemia". Hum. Mutat. 30 (3): 321–7. doi:10.1002/humu.20874. PMID 19191325.
^ ^a ^b 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.; Vlachos, A; Atsidaftos, E; Lipton, J. M.; Ellis, S. R.; Ramenghi, U; Dianzani, I (2010). "The ribosomal basis of Diamond-Blackfan Anemia: Mutation and database update". Human Mutation. 31 (12): 1269–79. doi:10.1002/humu.21383. PMC 4485435 . PMID 20960466.
^ ^a ^b ^c Rey, Michelle A.; Duffy, Simon P.; Brown, Jennifer K.; Kennedy, James A.; Dick, John E.; Dror, Yigal; Tailor, Chetankumar S. (2008-11-01). "Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis". Haematologica. 93 (11): 1617–1626. doi:10.3324/haematol.13359. ISSN 0390-6078. PMID 18815190.
^ ^a ^b ^c ^d ^e Online Mendelian Inheritance in Man. Diamond-Blackfan anemia. Johns Hopkins University. [1]
^ 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). "Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia". Journal of Clinical Investigation. 122 (7): 2439–2443. doi:10.1172/jci63597. PMC 3386831 . PMID 22706301.
^ Parrella, Sara; Aspesi, Anna; Quarello, Paola; Garelli, Emanuela; Pavesi, Elisa; Carando, Adriana; Nardi, Margherita; Ellis, Steven R.; Ramenghi, Ugo (2014-07-01). "Loss of GATA-1 full length as a cause of Diamond–Blackfan anemia phenotype". Pediatric Blood & Cancer. 61 (7): 1319–1321. doi:10.1002/pbc.24944. ISSN 1545-5017.
^ Crielaard, Bart J.; Lammers, Twan; Rivella, Stefano (2017-02-03). "Targeting iron metabolism in drug discovery and delivery". Nature Reviews Drug Discovery. advance online publication. doi:10.1038/nrd.2016.248. ISSN 1474-1784.
^ ^a ^b ^c ^d ^e ^f ^g Hoffbrand, AV; Moss PAH (2011). Essential Haematology (6th ed.). Wiley-Blackwell. ISBN 978-1-4051-9890-5.
^ Gazda HT, Grabowska A, Merida-Long LB, et al. (December 2006). "Ribosomal protein S24 gene is mutated in Diamond–Blackfan anemia". Am. J. Hum. Genet. 79 (6): 1110–8. doi:10.1086/510020. PMC 1698708 . PMID 17186470.
^ Cmejla R, Cmejlova J, Handrkova H, Petrak J, Pospisilova D (December 2007). "Ribosomal protein S17 gene (RPS17) is mutated in Diamond–Blackfan anemia". Hum. Mutat. 28 (12): 1178–82. doi:10.1002/humu.20608. PMID 17647292.
^ Farrar JE, Nater M, Caywood E, et al. (September 2008). "Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond–Blackfan anemia". Blood. 112 (5): 1582–92. doi:10.1182/blood-2008-02-140012. PMC 2518874 . PMID 18535205.
^ ^a ^b ^c Gazda H. T.; Sheen M. R.; Vlachos A; et al. (2008). "Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients". The American Journal of Human Genetics. 83 (6): 769–80. doi:10.1016/j.ajhg.2008.11.004. PMC 2668101 . PMID 19061985.
^ Online Mendelian Inheritance in Man (OMIM) 603632
^ ^a ^b Online Mendelian Inheritance in Man (OMIM) 603701
^ Online Mendelian Inheritance in Man (OMIM) 604174
^ ^a ^b ^c 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). "Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28". American Journal of Medical Genetics. 164A (9): 2240–9. doi:10.1002/ajmg.a.36633. PMC 4149220 . PMID 24942156.
^ Gazda H, Lipton JM, Willig TN, et al. (April 2001). "Evidence for linkage of familial Diamond–Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease". Blood. 97 (7): 2145–50. doi:10.1182/blood.V97.7.2145. PMID 11264183.
^ Williamson, MA; Snyder, LM. (2015). "Chapter 9". Wallach's Interpretation of Diagnostic Tests (10th ed.). Lippincott Williams & Wilkins. ISBN 9781451191769.
^ Vlachos A, Klein GW, Lipton JM (2001). "The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond–Blackfan anemia". J. Pediatr. Hematol. Oncol. 23 (6): 377–82. doi:10.1097/00043426-200108000-00015. PMID 11563775.
^ Saunders, E. F.; Olivieri, N; Freedman, M. H. (1993). "Unexpected complications after bone marrow transplantation in transfusion-dependent children". Bone marrow transplantation. 12 Suppl 1: 88–90. PMID 8374573.
^ Pospisilova D, Cmejlova J, Hak J, Adam T, Cmejla R (2007). "Successful treatment of a Diamond–Blackfan anemia patient with amino acid leucine". Haematologica. 92 (5): e66. doi:10.3324/haematol.11498. PMID 17562599.
^ Hugh W. Josephs (1936). "Anaemia of infancy and early childhood". Medicine (Baltimore). 15: 307–451. doi:10.1097/00005792-193615030-00001.
^ Diamond LK, Blackfan KD (1938). "Hypoplastic anemia". Am. J. Dis. Child. 56: 464–467.
^ Diamond LK, Allen DW, Magill FB (1961). "Congenital (erythroid) hypoplastic anemia: a 25 year study". Am. J. Dis. Child. 102 (3): 403–415. doi:10.1001/archpedi.1961.02080010405019. PMID 13722603.
^ 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". Nat. Genet. 16 (4): 368–71. doi:10.1038/ng0897-368. PMID 9241274.
^ Gustavsson P, Skeppner G, Johansson B, Berg T, Gordon L, Kreuger A, Dahl N (1997). "Diamond–Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation". J. Med. Genet. 34 (9): 779–82. doi:10.1136/jmg.34.9.779. PMC 1051068 . PMID 9321770.
^ 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". Nat. Genet. 21 (2): 168–75. doi:10.1038/5951. PMID 9988267.
^ 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). "Evidence for linkage of familial Diamond–Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease". Blood. 97 (7): 2145–50. doi:10.1182/blood.V97.7.2145. PMID 11264183.
^ http://www.womenyoushouldknow.net/6-year-old-audrey-nethery-puts-her-rare-blood-disorder-in-spotlight-with-awesome-zumba-moves-sets-sights-ellen-show/
^ http://www.cosmopolitan.com/health-fitness/news/a45231/this-little-girl-is-better-at-zumba-than-youll-ever-be/

External links

Diamond Blackfan Anemia Foundation (USA)
Daniella Maria Arturi Foundation Research For The Cure (USA)
GeneReviews/NCBI/NIH/UW entry on Diamond–Blackfan Anemia
OMIM entries on Diamond–Blackfan Anemia
Diamond–Blackfan Anemia research study of Inherited Bone Marrow Failure Syndromes (IBMFS)
UK Diamond Blackfan Anaemia Charity
Diamond Blackfan Anæmia International Support Group
Diamond Blackfan Anemia Registry of North America (DBAR)
Diamond–Blackfan anemia Genetics Home Reference

UpToDate Contents

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1. 小児および思春期におけるダイヤモンドブラックファン貧血および骨髄異形成症候群に対する造血細胞移植 hematopoietic cell transplantation for diamond blackfan anemia and the myelodysplastic syndromes in children and adolescents
2. 小児における赤血球産生低下による貧血 anemia in children due to decreased red blood cell production
3. サラセミアおよびその他の鉄過剰状態に対するキレート療法 chelation therapy for thalassemia and other iron overload states
4. 小児における皮膚蒼白の評価 evaluation of pallor in children
5. 小児および思春期における遺伝性再生不良性貧血 inherited aplastic anemia in children and adolescents

English Journal

Diamond Blackfan anemia: A Cheshire cat of hematology.

Farrar JE.
Pediatric blood & cancer.Pediatr Blood Cancer.2014 Jul;61(7):1154-5. doi: 10.1002/pbc.25014. Epub 2014 Mar 14.
PMID 24634369

Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.

Parrella S1, Aspesi A, Quarello P, Garelli E, Pavesi E, Carando A, Nardi M, Ellis SR, Ramenghi U, Dianzani I.
Pediatric blood & cancer.Pediatr Blood Cancer.2014 Jul;61(7):1319-21. doi: 10.1002/pbc.24944. Epub 2014 Jan 22.
Mutations in the hematopoietic transcription factor GATA-1 alter the proliferation/differentiation of hemopoietic progenitors. Mutations in exon 2 interfere with the synthesis of the full-length isoform of GATA-1 and lead to the production of a shortened isoform, GATA-1s. These mutations have been f
PMID 24453067

Nucleolar stress in Diamond Blackfan anemia pathophysiology.

Ellis SR.
Biochimica et biophysica acta.Biochim Biophys Acta.2014 Jun;1842(6):765-768. doi: 10.1016/j.bbadis.2013.12.013. Epub 2014 Jan 8.
Diamond Blackfan anemia is a red cell hypoplasia that typically presents within the first year of life. Most cases of Diamond Blackfan anemia are caused by ribosome assembly defects linked to haploinsufficiency for structural proteins of either ribosomal subunit. Nucleolar stress associated with abo
PMID 24412987

Japanese Journal

Failure of immunosuppressive therapy and high-dose intravenous immunoglobulins in four transfusion-dependent, steroid-unresponsive Blackfan-Diamond anemia patients

BEJAOUI M
Haematologica 78, 38-39, 1993
NAID 10011958501

小児期再生不良性貧血の抗リンパ球グロブリン療法

田口信行,杉田記代子,関根百合子,赤羽太郎,中畑龍俊,赤塚順一,長尾大,辻野儀一,月本一郎,宮崎澄雄,小島勢二,麦島秀雄,石川順一,豊田恭徳,伊藤尹敦,石本浩市,筒井孟,蒲生鐵男
日本小児血液学会雑誌 3(1), 70-77, 1989
小児の中等症ないし重症再生不良性貧血40例のAL (T) Gによる治療効果を研究した.特発性32例, Fanconi貧血1例, 二次性3例およびPRCA4例である.39例にALGを, 1例にATGを投与した.AL (T) Gは20～40mg/kg/日を5日間投与した.重症9例と中等症1例ではmethylprednisolone大量を同時併用した.3ヵ月以内に, 重症25例中6例, 中等症10例中1 …
NAID 130004346018

先天性低形成性貧血男児に対するｄｅｆｅｒｏｘａｍｉｎｅ持続皮下注射療法の効果

石戸谷尚子 [他],五味淵一三,藤沢康司,赤塚順一
臨床血液 29(9), 1408-1412, 1988
… Secondary hemosiderosis and death from chronic iron overload may result from repeated blood transfusions in refractory anemia. …
NAID 130004918751

「ブラックファン・ダイアモンド貧血」

Diamond–Blackfan anemia
Synonyms	Blackfan-Diamond anemia, inherited pure red cell aplasia, inherited erythroblastopenia
Classification and external resources
Specialty	hematology
ICD-10	D61.0
ICD-9-CM	284.01
OMIM	105650
eMedicine	article/205695-overview/
Patient UK	Diamond–Blackfan anemia
MeSH	D029503
	[edit on Wikidata]

　　[★]

英: Blackfan-Diamond anemia
同: 先天性形成不良性貧血 congenital hypoplastic anemia, pure red cell anemia
関: 先天性再生不良性貧血、先天性赤芽球癆

「diamond」

　　[★]

n.

ダイアモンド

[Williams_2010_8-1] Kaushansky, K; Lichtman, M; Beutler, E; Kipps, T; Prchal, J; Seligsohn, U. (2010). "35". Williams Hematology (8th ed.). McGraw-Hill. ISBN 978-0071621519.

[2] Tchernia, Gilbert; Delauney, J (June 2000). "Diamond–Blackfan anemia" (PDF). Orpha.net. Retrieved 1 January 2010.

[Cmejla2009-3] Cmejla R, Cmejlova J, Handrkova H, et al. (February 2009). "Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond–Blackfan anemia". Hum. Mutat. 30 (3): 321–7. doi:10.1002/humu.20874. PMID 19191325.

[Boria2010-4] 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.; Vlachos, A; Atsidaftos, E; Lipton, J. M.; Ellis, S. R.; Ramenghi, U; Dianzani, I (2010). "The ribosomal basis of Diamond-Blackfan Anemia: Mutation and database update". Human Mutation. 31 (12): 1269–79. doi:10.1002/humu.21383. PMC 4485435 . PMID 20960466.

[:0-5] Rey, Michelle A.; Duffy, Simon P.; Brown, Jennifer K.; Kennedy, James A.; Dick, John E.; Dror, Yigal; Tailor, Chetankumar S. (2008-11-01). "Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis". Haematologica. 93 (11): 1617–1626. doi:10.3324/haematol.13359. ISSN 0390-6078. PMID 18815190.

[OMIM105650-6] Online Mendelian Inheritance in Man. Diamond-Blackfan anemia. Johns Hopkins University. [1]

[7] 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). "Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia". Journal of Clinical Investigation. 122 (7): 2439–2443. doi:10.1172/jci63597. PMC 3386831 . PMID 22706301.

[8] Parrella, Sara; Aspesi, Anna; Quarello, Paola; Garelli, Emanuela; Pavesi, Elisa; Carando, Adriana; Nardi, Margherita; Ellis, Steven R.; Ramenghi, Ugo (2014-07-01). "Loss of GATA-1 full length as a cause of Diamond–Blackfan anemia phenotype". Pediatric Blood & Cancer. 61 (7): 1319–1321. doi:10.1002/pbc.24944. ISSN 1545-5017.

[9] Crielaard, Bart J.; Lammers, Twan; Rivella, Stefano (2017-02-03). "Targeting iron metabolism in drug discovery and delivery". Nature Reviews Drug Discovery. advance online publication. doi:10.1038/nrd.2016.248. ISSN 1474-1784.

[Hoffbrand_2011_6-10] ^ ^a ^b ^c ^d ^e ^f ^g Hoffbrand, AV; Moss PAH (2011). Essential Haematology (6th ed.). Wiley-Blackwell. ISBN 978-1-4051-9890-5.

[Gazda2006-11] Gazda HT, Grabowska A, Merida-Long LB, et al. (December 2006). "Ribosomal protein S24 gene is mutated in Diamond–Blackfan anemia". Am. J. Hum. Genet. 79 (6): 1110–8. doi:10.1086/510020. PMC 1698708 . PMID 17186470.

[Cmejla2007-12] Cmejla R, Cmejlova J, Handrkova H, Petrak J, Pospisilova D (December 2007). "Ribosomal protein S17 gene (RPS17) is mutated in Diamond–Blackfan anemia". Hum. Mutat. 28 (12): 1178–82. doi:10.1002/humu.20608. PMID 17647292.

[Farrar2008-13] Farrar JE, Nater M, Caywood E, et al. (September 2008). "Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond–Blackfan anemia". Blood. 112 (5): 1582–92. doi:10.1182/blood-2008-02-140012. PMC 2518874 . PMID 18535205.

[Gazda2008-14] Gazda H. T.; Sheen M. R.; Vlachos A; et al. (2008). "Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients". The American Journal of Human Genetics. 83 (6): 769–80. doi:10.1016/j.ajhg.2008.11.004. PMC 2668101 . PMID 19061985.

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[31] ttp://www.womenyoushouldknow.net/6-year-old-audrey-nethery-puts-her-rare-blood-disorder-in-spotlight-with-awesome-zumba-moves-sets-sights-ellen-show/

[32] ttp://www.cosmopolitan.com/health-fitness/news/a45231/this-little-girl-is-better-at-zumba-than-youll-ever-be/

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Blackfan-Diamond anemia