| Autor: |
Gupta Sanjeev, Rao Seema, Kar Rakhee, Tyagi Seema, Pati Hara |
| Jazyk: |
angličtina |
| Rok vydání: |
2009 |
| Předmět: |
|
| Zdroj: |
Indian Journal of Pathology and Microbiology, Vol 52, Iss 3, Pp 424-426 (2009) |
| Druh dokumentu: |
article |
| ISSN: |
0377-4929 |
| Popis: |
Sideroblastic anemia, comprising of acquired and congenital forms, is a heterogeneous group of disorders characterized by the presence of ring sideroblasts in the bone marrow. Congenital sideroblastic anemia is a rare condition which is mostly X-linked, caused by mutations of delta-aminolevulinic acid synthase 2. We describe two cases of congenital sideroblastic anemia, one of them indicating an autosomal recessive inheritance, with their clinico-hematological profile. It is important to recognize this entity early in life as a significant percentage of cases respond to pyridoxine thus avoiding any long-term complications. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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