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
genus of terrestrial or lithophytic ferns having pinnatifid fronds; chiefly of tropical America (同)genus Anemia

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Warang P, Kedar P, Ghosh K, Colah R.SourceNational Institute of Immunohaematology (Indian Council of Medical Research), K.E.M. Hospital Campus, Parel, Mumbai, India.
Blood cells, molecules & diseases.Blood Cells Mol Dis.2013 Oct;51(3):133-7. doi: 10.1016/j.bcmd.2013.05.006. Epub 2013 Jun 14.
We studied the PK-LR gene in 10 unrelated Indian patients with congenital haemolytic anemia associated with erythrocyte pyruvate kinase deficiency. The patients had a variable presentation ranging from a very mild compensated hemolysis to severe anemia. Nine different mutations were detected among t
PMID 23770304

Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life.

Stoddart MT, Connor P, Germeshausen M, Ballmaier M, Steward CG.SourceImperial College School of Medicine, London, UK.
Pediatric blood & cancer.Pediatr Blood Cancer.2013 Sep;60(9):E94-6. doi: 10.1002/pbc.24566. Epub 2013 Apr 26.
Congenital amegakaryocytic thrombocytopenia (CAMT) is characterised by neonatal thrombocytopenia, with reduced or absent bone marrow megakaryocytes, leading eventually to pancytopenia. The mean age for progression to bone marrow failure is four years, with the earliest reported being six months. We
PMID 23625800

Erythroid transcription factor EKLF/KLF1 mutation causing congenital dyserythropoietic anemia type IV in a patient of Taiwanese origin: review of all reported cases and development of a clinical diagnostic paradigm.

Jaffray JA, Mitchell WB, Gnanapragasam MN, Seshan SV, Guo X, Westhoff CM, Bieker JJ, Manwani D.SourceRed Cell Physiology, New York Blood Center, 310 East 67th Street, New York, NY 10065, USA.
Blood cells, molecules & diseases.Blood Cells Mol Dis.2013 Aug;51(2):71-5. doi: 10.1016/j.bcmd.2013.02.006. Epub 2013 Mar 20.
KLF1 is an erythroid specific transcription factor that is involved in erythroid lineage commitment, globin switching and terminal red blood cell maturation. Various mutations of KLF1 have been identified in humans, which have led to both benign and pathological phenotypes. The E325K mutation, withi
PMID 23522491

Relationships Among Red Cell Distribution Width, Anemia, and Interleukin-6 in Adult Congenital Heart Disease

Miyamoto Kenji,Inai Kei,Takeuchi Daiji [他]
Circulation journal : official journal of the Japanese Circulation Society 79(5), 1100-1106, 2015-05
NAID 40020437158

土岐力,伊藤悦朗
臨床血液 56(7), 867-876, 2015
ダイアモンド・ブラックファン貧血(DBA)は，稀な先天性骨髄不全症で赤血球造血不全に特徴づけられる。大球性貧血はDBAの特徴であるが約40%に成長遅滞や奇形をみとめる。DBAはリボソーム・タンパク(RP)遺伝子の単一片アレル不活性型変異と関連している。DBAでは，RPS7, RPS10, RPS17, RPS19, RPS24, RPS26, RPL5, RPL11, RPL26, RPL35Aの …
NAID 130005093121

菅野仁,小倉浩美
臨床血液 56(7), 771-777, 2015
先天性溶血性貧血の一型である赤血球酵素異常症は，解糖系，五炭糖リン酸経路などの代謝系の酵素遺伝子に変異が生じて発症する単一遺伝子病である。われわれが2004～2013年に検査した先天性貧血患者数は487例であり，294例(60%)に病因を確定し得たが，先天性溶血性貧血症例247例のうちの82例(33%)がG6PD異常症であった。近年，国際結婚が増加していることを反映して，診断したG6PD異常症患者 …
NAID 130005093113