Congenital Amegakaryocytic Thrombocytopenia with Congenital Deformities and a Leukemoid Blood Picture in the Newborn

Blood ◽  
1957 ◽  
Vol 12 (6) ◽  
pp. 567-576 ◽  
Author(s):  
JOHN L. EMERY ◽  
R. R. GORDON ◽  
JOHN RENDLE-SHORT ◽  
S. VARADI ◽  
A. J. N. WARRACK
Keyword(s):  
Bone Marrow ◽  
The Other ◽  
Blood Picture ◽  
Congenital Deformities ◽  
Congenital Leukemia ◽  
Fanconi's Anemia ◽  
Fanconi’S Anemia ◽  
The One

Abstract Two infants with absent radii are described. Both had hemorrhagic manifestations which occurred within 24 hours of birth, and from which they eventually died. The most important hematologic feature was absence of megakaryocytes in the bone marrow. Five cases showing a similar picture have been recorded, four as amegakaryocytic thrombocytopenia, and one as congenital leukemia. It is suggested that these cases are related on the one hand to Fanconi’s anemia, and on the other to congenital leukemia.

Inherited Bone Marrow Failure Syndromes in Children: 32 Years Experience in a Single Institution.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 3751-3751
Author(s):  
Guillermo I. Drelichman ◽  
Nora F. Basack ◽  
Alejandra Maro ◽  
Graciela Schwalb ◽  
Daniel H. Freigeiro ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Failure ◽  
Dyskeratosis Congenita ◽  
Single Institution ◽  
Bone Marrow Aplasia ◽  
Fanconi's Anemia ◽  
Bone Marrow Failure Syndromes ◽  
Fanconi’S Anemia ◽  
Risk Of Malignancy

Abstract Inherited bone marrow failure syndromes (IBMFS) present chronic bone marrow failures, a familial incidence and high risk of malignancy. Objective: we describe our experience with patients with IBMFS. Since 02/73 to 02/05, 60 patients (pts) with IBMSF were diagnosed. Fanconi’s Anemia Blackfand-Diamond TAR-Shwachman-Diamond-Dyskeratosis Congenita Amegakaryocytic Thrombocytopenia.- Kostmann’s S. Familial AA-Pearson’s S N Pts 26 17 6 – 2 – 2 2 – 2 2 – 1 Median age at diagnosis 7.1 y 3 m 3m – 4 m – 6.4 y 2 m – 1.8 m 4 y – 3 y First hematologic sign Pancytopenia Anemia Thrombocytop. – Neutrop. – Pancytop. Thrombocytop. – Neutrop. Pancytop. – Anemia Bone Marrow Aplastic Erythroid Aplasia Megakar. Aplasia – Myeloid arrest– Aplastic Megakar. Aplasia– Myeloid arrest Aplastic – Vacuolated myeloid Physical Abnorm.(%) 88 47 100 – 50– 100 50 – 0 0 – 0 Aplastic Anemia (%) 100 0 0 – 0 – 100 50 – 0 100 – 100 Leukemia / MDS (%) 11.5 0 0 – 0 – 0 0 – 0 0 – 0 Mortality(%) 62 0 17 – 50 – 0 50 – 50 50 – 0 Conclusion: 68 % pts. presented with associated physical abnormalities, 53 % began the symptoms with bone marrow aplasia. With a median follow up: 16. 3 years (r: 1y – 32 y), 39 (65%) pts are alive (9 pts. post bone marrow transplantation) and 3 pts with Fanconi’s Anemia developed refractory Acute Myeloblastic Leukemia.

scholarly journals BONE MARROW CULTURES IN CHILDREN WITH FANCONI'S ANEMIA AND T.A.R. SYNDROME

1977 ◽  
Vol 11 (4) ◽  
pp. 475-475
Author(s):  
Victor Lui ◽  
Abdelsalam H Ragab ◽  
Harry Findley ◽  
Barbara Frauen
Keyword(s):  
Bone Marrow ◽  
Fanconi's Anemia ◽  
Fanconi’S Anemia ◽  
Bone Marrow Cultures ◽  
Marrow Cultures

scholarly journals Fanconi’s Anemia and Other Hereditary Bone Marrow Failure Syndromes

2018 ◽  
pp. 587-593
Author(s):  
Cristina Díaz de Heredia ◽  
Marc Bierings ◽  
Jean-Hugues Dalle ◽  
Francesca Fioredda ◽  
Brigitte Strahm
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Failure ◽  
Fanconi's Anemia ◽  
Bone Marrow Failure Syndromes ◽  
Fanconi’S Anemia

scholarly journals STUDIES ON THE MECHANISM OF ERYTHROPOIETIC STIMULATION IN PARABIOTIC RATS DURING HYPOXIA

Blood ◽  
1950 ◽  
Vol 5 (4) ◽  
pp. 372-380 ◽  
Author(s):  
KURT R. REISSMANN
Keyword(s):  
Bone Marrow ◽  
Partial Pressure ◽  
Normal Values ◽  
The Other ◽  
Partial Pressure Of Oxygen ◽  
Low Oxygen ◽  
Experimental Conditions ◽  
Significant Stimulation ◽  
The One ◽  
Chronic Hypoxemia

Abstract Chronic hypoxemia was induced in one partner of a pair of parabiotic rats by exposure to defined gas mixtures with low oxygen content. The other partner of the pair was kept in normal atmosphere throughout the experiment and showed normal values of the oxygen saturation of the blood. The erythropoiesis, estimated by the percentage of nucleated red cells in the bone marrow, showed a statistically significant stimulation in both animals. It is, therefore, concluded that under these experimental conditions, the stimulus is not the partial pressure of oxygen in the bone marrow directly but a humoral factor elicited by the hypoxemia in the one partner and transferred to the other one.

Fanconi's Anemia in Adulthood: Chemoradiation-Induced Bone Marrow Failure and a Novel FANCA Mutation Identified by Targeted Deep Sequencing

2011 ◽  
Vol 29 (20) ◽  
pp. e591-e594 ◽  
Author(s):  
Iain Beehuat Tan ◽  
Ioana Cutcutache ◽  
Zhi Jiang Zang ◽  
Jabed Iqbal ◽  
Seow Fong Yap ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Deep Sequencing ◽  
Bone Marrow Failure ◽  
Fanconi's Anemia ◽  
Fanconi’S Anemia ◽  
Targeted Deep Sequencing
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