Diamond-Blackfan anemia medical therapy: Difference between revisions
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==Medical Therapy== | ==Medical Therapy== | ||
*[[Corticosteroid]] therapy | |||
*[[Corticosteroids]] | **[[Corticosteroids]] remain the mainstay of treatment after the original report of their efficacy. In a large study of 225 patients, 82% initially responded to this therapy, although many side effects were noted.<ref>{{cite journal | author= Vlachos A, Klein GW, Lipton JM | title= The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia. | journal= J. Pediatr. Hematol. Oncol. | year=2001 | pages=377-82 | volume=23 | issue=6 | id=PMID 11563775}}</ref> Some patients remained responsive to steroids, while [[efficacy]] waned in others. Individuals with DBA, especially those on corticosteroid treatment, should take reasonable precautions to avoid infections | ||
*[[Blood transfusions]] can also be used to treat severe anemia in DBA. Periods of [[remission]] may occur, during which transfusions and steroid treatments are not required. | *[[Blood transfusions]] | ||
*[[Bone marrow transplantation]] (BMT) can cure hematological aspects of DBA. This option may be considered when patients become transfusion-dependent because frequent transfusions can lead to iron overloading and organ damage. However, data from a large DBA patient registry indicated that [[adverse events]] in transfusion-dependent patients were more frequently caused by BMTs than iron overloading. | **can also be used to treat severe anemia in DBA. Periods of [[remission]] may occur, during which transfusions and steroid treatments are not required. | ||
*[[Bone marrow transplantation]] (BMT) | |||
** can cure hematological aspects of DBA. This option may be considered when patients become transfusion-dependent because frequent transfusions can lead to iron overloading and organ damage. However, data from a large DBA patient registry indicated that [[adverse events]] in transfusion-dependent patients were more frequently caused by BMTs than iron overloading. | |||
*Cancer treatment | *Cancer treatment | ||
*[[Prevention of secondary complications]]: | *[[Prevention of secondary complications]]: | ||
*Iron chelation | *** Iron chelation | ||
**Deferasirox is recommended in individuals age two years or older. | ***Deferasirox is recommended in individuals age two years or older. | ||
**Desferrioxamine | ***Desferrioxamine | ||
*Evaluation of Relatives at Risk | **Evaluation of Relatives at Risk | ||
**Molecular genetic testing if the pathogenic variant in the family is known | ***Molecular genetic testing if the pathogenic variant in the family is known | ||
**Consideration of other testing (e.g., mean corpuscular volume, eADA, and/or fetal hemoglobin concentration) if the pathogenic variant in the family is not known – especially of relatives being considered as bone marrow donors | ***Consideration of other testing (e.g., mean corpuscular volume, eADA, and/or fetal hemoglobin concentration) if the pathogenic variant in the family is not known – especially of relatives being considered as bone marrow donors | ||
==References== | ==References== | ||
Revision as of 23:10, 5 August 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Medical Therapy
- Corticosteroid therapy
- Corticosteroids remain the mainstay of treatment after the original report of their efficacy. In a large study of 225 patients, 82% initially responded to this therapy, although many side effects were noted.[1] Some patients remained responsive to steroids, while efficacy waned in others. Individuals with DBA, especially those on corticosteroid treatment, should take reasonable precautions to avoid infections
- Blood transfusions
- can also be used to treat severe anemia in DBA. Periods of remission may occur, during which transfusions and steroid treatments are not required.
- Bone marrow transplantation (BMT)
- can cure hematological aspects of DBA. This option may be considered when patients become transfusion-dependent because frequent transfusions can lead to iron overloading and organ damage. However, data from a large DBA patient registry indicated that adverse events in transfusion-dependent patients were more frequently caused by BMTs than iron overloading.
- Cancer treatment
- Prevention of secondary complications:
- Iron chelation
- Deferasirox is recommended in individuals age two years or older.
- Desferrioxamine
- Evaluation of Relatives at Risk
- Molecular genetic testing if the pathogenic variant in the family is known
- Consideration of other testing (e.g., mean corpuscular volume, eADA, and/or fetal hemoglobin concentration) if the pathogenic variant in the family is not known – especially of relatives being considered as bone marrow donors
References
- ↑ Vlachos A, Klein GW, Lipton JM (2001). "The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia". J. Pediatr. Hematol. Oncol. 23 (6): 377–82. PMID 11563775.