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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. 赤血球産生調節 regulation of erythropoiesis
3. 鉄芽球性貧血の病態生理 pathophysiology of the sideroblastic anemias
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. ビリルビン代謝 bilirubin metabolism

English Journal

Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I.

Shalev H1, Al-Athamen K2, Levi I2, Levitas A3, Tamary H4.
European journal of haematology.Eur J Haematol.2017 Jan;98(1):13-18. doi: 10.1111/ejh.12778. Epub 2016 Jun 15.
Congenital dyserythropoietic anemia type I (CDAI) is a rare autosomal recessive disease characterized by macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. To better define the natural history of the disease among adult patients, we studied 32 Bedouin patients (median age
PMID 27206021

Clinical and genetic association, radiological findings and response to biological therapy in seven children from Qatar with non-bacterial osteomyelitis.

Moussa T1, Bhat V2, Kini V3, Fathalla BM4.
International journal of rheumatic diseases.Int J Rheum Dis.2016 Nov 9. doi: 10.1111/1756-185X.12940. [Epub ahead of print]
AIM: We aim to report the clinical manifestations, genetic testing results, magnetic resonance imaging (MRI) findings and biologics used in the management of non-bacterial osteomyelitis in our center.METHODS: We conducted a retrospective review of medical records. A previously proposed classificatio
PMID 27860302

Li SL, Wang XQ, Mao Q.
Zhonghua er ke za zhi = Chinese journal of pediatrics.Zhonghua Er Ke Za Zhi.2016 Nov 2;54(11):860-861. doi: 10.3760/cma.j.issn.0578-1310.2016.11.015.
PMID 27806797

A Case of Congenital Dyserythropoietic Anemia Type 1 in a Japanese Adult with a CDAN1 Gene Mutation and an Inappropriately Low Serum Hepcidin-25 Level

Kawabata Hiroshi,Doisaki Sayoko,Okamoto Akio,Uchiyama Tatsuki,Sakamoto Soichiro,Hama Asahito,Hosoda Kiminori,Fujikura Junji,Kanno Hitoshi,Fujii Hisaichi,Tomosugi Naohisa,Nakao Kazuwa,Kojima Seiji,Takaori-Kondo Akifumi
Internal Medicine 51(8), 917-920, 2012
… We describe the first case of genetically diagnosed congenital dyserythropoietic anemia (CDA) type 1 in a Japanese man. …
NAID 130002061879