IRON OVERLOAD AND MANAGEMENT IN PATIENTS WITH DIAMOND BLACKFAN ANEMIA
Author(s): ,
Sule Unal
Affiliations:
Center for Fanconi Anemia and Inherited Bone Marrow Failure Syndromes,Hacettepe University,Ankara,Turkey
,
Gulare Soltanova
Affiliations:
Department of Pediatrics,Hacettepe University,Ankara,Turkey
,
Nurten Akarsu
Affiliations:
Center for Fanconi Anemia and Inherited Bone Marrow Failure Syndromes ,Hacettepe University,Ankara,Turkey
,
Mualla Cetin
Affiliations:
Center for Fanconi Anemia and Inherited Bone Marrow Failure Syndromes ,Hacettepe University,Ankara,Turkey
Fatma Gumruk
Affiliations:
Center for Fanconi Anemia and Inherited Bone Marrow Failure Syndromes,Hacettepe University,Ankara,Turkey
(Abstract release date: 05/17/18) EHA Library. Unal S. 06/16/18; 215384; PS1062
Sule Unal
Sule Unal
Contributions
Abstract

Abstract: PS1062

Type: Poster Presentation

Presentation during EHA23: On Saturday, June 16, 2018 from 17:30 - 19:00

Location: Poster area

Background
Diamond Blackfan anemia (DBA) is a rare genetic ribosomopathy  charactherized with severe anemia related to low erythroid precursors in the bone marrow. The patients are prone to transfusional iron loading, in addition to iron loading related to paucity of erythroid precursors in the bone marrow which interrupts the iron turn-over.  

Aims

In this study, we aimed to define the severity of iron loading among DBA patients. There is limited data on iron loading in DBA patients.

Methods
The patients were evaluated cross-sectionally with serum ferritin and cardiac and hepatic T2* MRI. All of the patients were evaluated with serum ferritin measurments and 13 were evaluated with cardiac and hepatic T2* MRI.

Results

A total of 45 patients with DBA were included. The median age of patiens at evaluation was 9 years (1-35) and female:male ratio was 1.5. The age of diagnosis of DBA was median 3 months-old (0-72).  All of the patients were found to have transfusion history. At time of evaluation for iron laoding 17 (37.8%) were on transfusion programme, 15 (33.3%) were in remission, 11 (24.4%) were on steroid treatment and 2 (4.4%) were transplanted. Mean serum ferritin levels were found 1103.86±1558.17 ng/ml (19.8-6839). The patients were further grouped according to number of transfusions as  ≤ 5, ≤ 10, > 10, ≥ 20 times and the serum ferritin leveles were measured as 154.13±198.54 ng/ml (19.8-461), 149.64±149.07 ng/ml (23-421), 616.97±565.84 ng/ml (31.7-1658) and 2306.06±1947.76 ng/ml (455-6839), respectively.  The difference between these 4 groups were found statistically significant.

Out of 13 patients who were evaluated with MRI, 4 (30.8%) had nor iron laoding, 8 (61.5%) had hepatic iron overload (moderate degree in 4, moderate to severe in 2 and severe in 2 patients), one (7.7%) had minimal degree of cardiac iron laoding. The median hepatic and cardiac T2* values were 8.7 ms (1.36-30) and 28.4 ms (12-41), respectively. Of the 8 patients who had hepatic iron loading, 5 (62.5%) wer on chronic transfusion programme, wheras 3 (37.5%) were steroid dependent. Sixteen (35.6%) of the patients were under chelation with deferasirox treatment.

Conclusion
There is limited data on the iron status of patients with DBA.  Iron overloading not only has negative impact on organ functions, but also affects hematopoietic stem cell transplantation outcome. The iron loading differs in various disorders such as in thalassemia major both cardiac and hepatic iron laoding is an issue, whereas in patients with thalassemia intermedia or sickle cell disease, most of the iron accumulates in liver. In DBA patients both cardiac and hepatic iron loading is a concern, however hepatic iron laoding is more common. Besides the patients who are on steroid treatment are also prone to hepatic iron laoding. This might be related to paucity of the eryhtroid precursors in bone marrow that impairs iron turn-over; besides most of the patients who are on steroid treatment also have received at least one-year course of transfusion in infancy prior to steroid initiation. Patients with DBA should be screened for iron loading as early as possible and chelation treatment should be initiated to prevent the related morbidity and mortalities.  

Session topic: 12. Bone marrow failure syndromes incl. PNH - Clinical

Keyword(s): Diamond-Blackfan anemia, Iron, iron chelation

Abstract: PS1062

Type: Poster Presentation

Presentation during EHA23: On Saturday, June 16, 2018 from 17:30 - 19:00

Location: Poster area

Background
Diamond Blackfan anemia (DBA) is a rare genetic ribosomopathy  charactherized with severe anemia related to low erythroid precursors in the bone marrow. The patients are prone to transfusional iron loading, in addition to iron loading related to paucity of erythroid precursors in the bone marrow which interrupts the iron turn-over.  

Aims

In this study, we aimed to define the severity of iron loading among DBA patients. There is limited data on iron loading in DBA patients.

Methods
The patients were evaluated cross-sectionally with serum ferritin and cardiac and hepatic T2* MRI. All of the patients were evaluated with serum ferritin measurments and 13 were evaluated with cardiac and hepatic T2* MRI.

Results

A total of 45 patients with DBA were included. The median age of patiens at evaluation was 9 years (1-35) and female:male ratio was 1.5. The age of diagnosis of DBA was median 3 months-old (0-72).  All of the patients were found to have transfusion history. At time of evaluation for iron laoding 17 (37.8%) were on transfusion programme, 15 (33.3%) were in remission, 11 (24.4%) were on steroid treatment and 2 (4.4%) were transplanted. Mean serum ferritin levels were found 1103.86±1558.17 ng/ml (19.8-6839). The patients were further grouped according to number of transfusions as  ≤ 5, ≤ 10, > 10, ≥ 20 times and the serum ferritin leveles were measured as 154.13±198.54 ng/ml (19.8-461), 149.64±149.07 ng/ml (23-421), 616.97±565.84 ng/ml (31.7-1658) and 2306.06±1947.76 ng/ml (455-6839), respectively.  The difference between these 4 groups were found statistically significant.

Out of 13 patients who were evaluated with MRI, 4 (30.8%) had nor iron laoding, 8 (61.5%) had hepatic iron overload (moderate degree in 4, moderate to severe in 2 and severe in 2 patients), one (7.7%) had minimal degree of cardiac iron laoding. The median hepatic and cardiac T2* values were 8.7 ms (1.36-30) and 28.4 ms (12-41), respectively. Of the 8 patients who had hepatic iron loading, 5 (62.5%) wer on chronic transfusion programme, wheras 3 (37.5%) were steroid dependent. Sixteen (35.6%) of the patients were under chelation with deferasirox treatment.

Conclusion
There is limited data on the iron status of patients with DBA.  Iron overloading not only has negative impact on organ functions, but also affects hematopoietic stem cell transplantation outcome. The iron loading differs in various disorders such as in thalassemia major both cardiac and hepatic iron laoding is an issue, whereas in patients with thalassemia intermedia or sickle cell disease, most of the iron accumulates in liver. In DBA patients both cardiac and hepatic iron loading is a concern, however hepatic iron laoding is more common. Besides the patients who are on steroid treatment are also prone to hepatic iron laoding. This might be related to paucity of the eryhtroid precursors in bone marrow that impairs iron turn-over; besides most of the patients who are on steroid treatment also have received at least one-year course of transfusion in infancy prior to steroid initiation. Patients with DBA should be screened for iron loading as early as possible and chelation treatment should be initiated to prevent the related morbidity and mortalities.  

Session topic: 12. Bone marrow failure syndromes incl. PNH - Clinical

Keyword(s): Diamond-Blackfan anemia, Iron, iron chelation

By clicking “Accept Terms & all Cookies” or by continuing to browse, you agree to the storing of third-party cookies on your device to enhance your user experience and agree to the user terms and conditions of this learning management system (LMS).

Cookie Settings
Accept Terms & all Cookies