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Page 1
Hereditary Predisposition to Hematopoietic Neoplasms: When Bloodline Matters for Blood Cancers.
Mangaonkar AA, Patnaik MM. Mangaonkar AA, et al. Mayo Clin Proc. 2020 Jul;95(7):1482-1498. doi: 10.1016/j.mayocp.2019.12.013. Epub 2020 Jun 19. Mayo Clin Proc. 2020. PMID: 32571604 Review.
Specific inherited bone marrow failure syndromes-such as GATA2 haploinsufficiency syndromes, short telomere syndromes, Shwachman-Diamond syndrome, Diamond-Blackfan anemia, severe congenital neutropenia, and familial thrombocytopenias-also have an incre …
Specific inherited bone marrow failure syndromes-such as GATA2 haploinsufficiency syndromes, short telomere syndromes, Shwachman-Diamond …
Diamond-Blackfan Anemia: A Case Report and Review of the Literature.
Dorn KM, Burns KD, Trout MAR, Ward DI, Wagner KJ, Meyer LR, Baack ML, Rodel RL. Dorn KM, et al. Neonatology. 2021;118(4):500-504. doi: 10.1159/000516030. Epub 2021 May 18. Neonatology. 2021. PMID: 34004602 Review.
We report a case of a male neonate delivered urgently via cesarean at thirty-five 5/7 weeks gestation for non-reassuring fetal monitoring who was found to have severe anemia at birth that could not be explained by acute blood loss. He was born to a 24-year-old mothe …
We report a case of a male neonate delivered urgently via cesarean at thirty-five 5/7 weeks gestation for non-reassuring fetal monito …
Diamond-Blackfan anemia.
Willig TN, Gazda H, Sieff CA. Willig TN, et al. Curr Opin Hematol. 2000 Mar;7(2):85-94. doi: 10.1097/00062752-200003000-00003. Curr Opin Hematol. 2000. PMID: 10698294 Review.
Diamond Blackfan anemia is 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 mar …
Diamond Blackfan anemia is a rare congenital hypoplastic anemia that usually presents early in infancy. ...The d …
An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia.
Da Costa L, Narla A, Mohandas N. Da Costa L, et al. F1000Res. 2018 Aug 29;7:F1000 Faculty Rev-1350. doi: 10.12688/f1000research.15542.1. eCollection 2018. F1000Res. 2018. PMID: 30228860 Free PMC article. Review.
Diamond-Blackfan anemia (DBA) is a rare congenital hypoplastic anemia characterized by a block in erythropoiesis at the progenitor stage, although the exact stage at which this occurs remains to be fully defined. DBA presents primarily during infancy w …
Diamond-Blackfan anemia (DBA) is a rare congenital hypoplastic anemia characterized by a block in erythropoiesis …
Diamond Blackfan anemia: a model for the translational approach to understanding human disease.
Vlachos A, Blanc L, Lipton JM. Vlachos A, et al. Expert Rev Hematol. 2014 Jun;7(3):359-72. doi: 10.1586/17474086.2014.897923. Epub 2014 Mar 26. Expert Rev Hematol. 2014. PMID: 24665981 Review.
Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome. ...Thus DBA serves as a paradigm for translational medicine in which the efforts of clinicians to manage DBA have informed laboratory scientists who, in turn, have stimulated clinical …
Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome. ...Thus DBA serves as a paradigm for transl …
Unusual Association of Diamond-Blackfan Anemia and Severe Sinus Bradycardia in a Six-Month-Old White Infant: A Case Report and Literature Review.
Moisa SM, Spoiala EL, Trandafir LM, Butnariu LI, Miron IC, Ciobanu A, Mocanu A, Ivanov A, Ciongradi CI, Sarbu I, Ciubara A, Rusu CD, Luca AC, Burlacu A. Moisa SM, et al. Medicina (Kaunas). 2023 Feb 14;59(2):362. doi: 10.3390/medicina59020362. Medicina (Kaunas). 2023. PMID: 36837563 Free PMC article. Review.
Diamond-Blackfan anemia is a rare (6-7 million live births), inherited condition manifesting as severe anemia due to the impaired bone marrow production of red blood cells. We present the unusual case of a six month old infant with a de novo mut …
Diamond-Blackfan anemia is a rare (6-7 million live births), inherited condition manifesting as severe anemia …
RPS19 mutations in patients with Diamond-Blackfan anemia.
Campagnoli MF, Ramenghi U, Armiraglio M, Quarello P, Garelli E, Carando A, Avondo F, Pavesi E, Fribourg S, Gleizes PE, Loreni F, Dianzani I. Campagnoli MF, et al. Hum Mutat. 2008 Jul;29(7):911-20. doi: 10.1002/humu.20752. Hum Mutat. 2008. PMID: 18412286 Review.
Diamond-Blackfan anemia (DBA) is an inherited disease characterized by pure erythroid aplasia. ...
Diamond-Blackfan anemia (DBA) is an inherited disease characterized by pure erythroid aplasia. ...
Deferasirox-associated Fanconi syndrome in adult patients with transfusional iron overload.
Yui JC, Geara A, Sayani F. Yui JC, et al. Vox Sang. 2021 Aug;116(7):793-797. doi: 10.1111/vox.13064. Epub 2021 Feb 2. Vox Sang. 2021. PMID: 33529394 Review.
MATERIALS AND METHODS: We present a review of the literature and six cases from our institution of deferasirox-associated partial Fanconi syndrome in adult patients with transfusional iron overload secondary to beta-thalassemia or Diamond Blackfan Anaemia. RE …
MATERIALS AND METHODS: We present a review of the literature and six cases from our institution of deferasirox-associated partial Fanconi sy …
Diagnosis and management of red cell aplasia in children.
Glader BE. Glader BE. Hematol Oncol Clin North Am. 1987 Sep;1(3):431-47. Hematol Oncol Clin North Am. 1987. PMID: 3129394 Review.
The vast majority of pediatric RBC hypoplastic anemias are accounted for by red blood cell aplasia associated with chronic hemolysis, Diamond-Blackfan anemia, and transient erythroblastopenia of childhood. ...Does the apparent heterogeneity of these disorders …
The vast majority of pediatric RBC hypoplastic anemias are accounted for by red blood cell aplasia associated with chronic hemolysis, Dia …
Epidemiology of rare anaemias in Europe.
Gulbis B, Eleftheriou A, Angastiniotis M, Ball S, Surrallés J, Castella M, Heimpel H, Hill A, Corrons JL. Gulbis B, et al. Adv Exp Med Biol. 2010;686:375-96. doi: 10.1007/978-90-481-9485-8_22. Adv Exp Med Biol. 2010. PMID: 20824457 Review.
The best known cause of rare anaemias associated with congenital haemolytic anaemia (CHA) in Europe is Hereditary Spherocytosis (HS) a red blood cell (RBC) membrane defect with a prevalence of 1 to 5 cases per 10.000 individuals. Some other causes of CHA are extremely rare …
The best known cause of rare anaemias associated with congenital haemolytic anaemia (CHA) in Europe is Hereditary Spherocytosis (HS) …
18 results