DIAMOND BLACKFAN ANEMIA
\dˈa͡ɪ͡əmənd blˈakfən ɐnˈiːmi͡ə], \dˈaɪəmənd blˈakfən ɐnˈiːmiə], \d_ˈaɪə_m_ə_n_d b_l_ˈa_k_f_ə_n ɐ_n_ˈiː_m_iə]\
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A rare congenital hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (Curr Opin Hematol 2000 Mar;7 (2):85-94)
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Word of the day
Procollagen Proline Dioxygenase
- mixed-function oxygenase that catalyzes hydroxylation prolyl-glycyl-containing-peptide, usually in protocollagen, hydroxyprolylglycyl-peptide. The enzyme utilizes molecular oxygen with a concomitant oxidative decarboxylation of 2-oxoglutarate to succinate. EC 1.14.11.2.