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 AnemiaBlackfand-DiamondTAR-Shwachman-Diamond-Dyskeratosis CongenitaAmegakaryocytic 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 
Fanconi’s AnemiaBlackfand-DiamondTAR-Shwachman-Diamond-Dyskeratosis CongenitaAmegakaryocytic 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 
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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.

Topics:
child, pancytopenia, brachial plexus neuritis, anemia, aplastic anemia, diamond, fanconi anemia, amegakaryocytic thrombocytopenia, bone marrow transplantation, cancer

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Corresponding author

2005, The American Society of Hematology
2005
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