WordNet

present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate
a deficiency of red blood cells (同)anaemia
a lack of vitality (同)anaemia

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1. 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
2. 鉄芽球性貧血の病態生理 pathophysiology of the sideroblastic anemias
3. 赤血球産生調節 regulation of erythropoiesis
4. ビリルビン過剰産生によるジルベール症候群および非抱合型ビリルビン過剰産生 gilbert syndrome and unconjugated hyperbilirubinemia due to bilirubin overproduction
5. 貧血を有する成人患者に対するアプローチ approach to the adult patient with anemia

Antiphospholipid syndrome in a patient suffering from congenital dyserythropoietic anemia type III.

Carreno-Tarragona G1, Trapiello-Valbuena F, Aranda-Salom J, Martínez-López J, Lumbreras C, Oliveira-Ramírez E, Díaz-Pedroche C.
Annals of hematology.Ann Hematol.2015 Aug;94(8):1411-2. doi: 10.1007/s00277-015-2379-y. Epub 2015 Apr 22.
PMID 25900788

Homozygosity mapping reveals founder SEC23B-Y462C mutations in Indian congenital dyserythropoietic anemia type II.

Singleton B1, Bansal D2, Varma N3, Das R3, Naseem S3, Saikia UN4, Malhotra P5, Varma S5, Marwaha RK2, King MJ6, Ahmed M7.
Clinical genetics.Clin Genet.2015 Aug;88(2):195-7. doi: 10.1111/cge.12527. Epub 2014 Nov 22.
PMID 25418799

Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis.

Di Pierro E1, Russo R2,3, Karakas Z4, Brancaleoni V1, Gambale A2,3, Kurt I5, Winter SS6, Granata F1, Czuchlewski DR7, Langella C2,3, Iolascon A2,3, Cappellini MD1,8.
European journal of haematology.Eur J Haematol.2015 Jun;94(6):491-7. doi: 10.1111/ejh.12452. Epub 2014 Oct 25.
Congenital erythropoietic porphyria (CEP) is a rare genetic disease that is characterized by a severe cutaneous photosensitivity causing unrecoverable deformities, chronic hemolytic anemia requiring blood transfusion program, and by fatal systemic complications. A correct and early diagnosis is requ
PMID 25251786

宮崎澄雄
日本小児血液学会雑誌 7(5), 413-419, 1993
多くの小児血液専攻医は溶血性貧血には関心がない.本稿では主として厚生省造血障害研究班で発表された興味ある研究を紹介する.遺伝性球状赤血球症や楕円赤血球症はスペクトリンやアンキリンのような膜骨格蛋白の欠損や変異によるものである.先天性dyserythropoieticanemia (CDA) のII型 (HEMPAS) はもっともよく知られている.このHEMPAS赤血球のband3糖蛋白は変型したハ …
NAID 130004346214