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Pearson's marrow-pancreas syndrome in 2 Turkish children.
- Source :
-
Acta haematologica [Acta Haematol] 1992; Vol. 87 (4), pp. 206-9. - Publication Year :
- 1992
-
Abstract
- Two unrelated infants, 1 female and 1 male, with Pearson's syndrome are presented. Both patients presented with severe macrocytic refractory anemia starting early in infancy. Investigation of the mitochondrial (mt), DNA showed that one of the patients had a 4,977 bp deletion, and the other had a 4.5 kb mtDNA deletion. It is concluded that Pearson's syndrome should be borne in mind in the differential diagnosis of refractory anemia especially when there are accompanying gastrointestinal disturbances and metabolic acidosis.
- Subjects :
- Anemia, Refractory ethnology
Anemia, Refractory genetics
Anemia, Sideroblastic ethnology
Anemia, Sideroblastic genetics
Base Sequence
Bone Marrow Diseases ethnology
Bone Marrow Diseases genetics
Chromosome Deletion
DNA, Mitochondrial analysis
DNA, Mitochondrial genetics
Diagnosis, Differential
Female
Humans
Infant
Male
Molecular Sequence Data
Pancreatic Diseases ethnology
Pancreatic Diseases genetics
Syndrome
Turkey
Anemia, Refractory diagnosis
Anemia, Sideroblastic diagnosis
Bone Marrow Diseases diagnosis
Pancreatic Diseases diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 0001-5792
- Volume :
- 87
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Acta haematologica
- Publication Type :
- Academic Journal
- Accession number :
- 1519437
- Full Text :
- https://doi.org/10.1159/000204769