Contributions
Abstract: PB1757
Type: Publication Only
Background
Fanconi aplastic anemia (FAA) is a rare, autosomal recessively inherited bone marrow failure disorder. Various congenital anomalies may accompany disease and various complications including malignancy and endocrinopathies may develop during the course.
Aims
Heavy metal levels in patients with different chronic disorders have been investigated, however, up to our knowledge there is no literature data on the heavy metal levels in patients with FAA.
Methods
Study was performed between July 2015 and April 2016 among patients with FAA and the results were compared with age and gender matched control group. Plasma copper (Cu), iron (Fe), zinc (Zn), and whole blood chromium (Cr), cobalt (Co), selenium (Se) levels were measured in patients with FAA.
Results
Total of 17 patients with FAA were included in the study. Median age was 9 years (1 – 30), female to male ratio was 8/9. One patient had undergone stem cell transplantation, four patients were transfusion dependent. When we compared patients with FAA and age/sex matched healthy group (16 volunteers) Cr and Cu levels were higher and Se level was lower in FAA group significantly (Table 1). However, all patients had chromium level within normal range, two patients with FAA and two volunteers had copper levels higher than the normal ranges (Table 2).
FAA | Control | p | |
Chromium (mcg/L) (2.8-45) | 8.5 (6.3 – 26.2) | 6.5 (4.2 – 13.5) | 0.09 |
Cobalt (mcg/L) (0.5-3.9) | 1.6 (0.09 – 3.2) | 1.6 (1.1 – 3.3) | 0.84 |
Copper (mcg/dL) (70-150) | 111.2 (65.3 – 181.3) | 80.7 (49.5 – 204.9) | 0.01 |
Iron (mcg/dL) (50-150) | 187.2 (119.7 – 391.2) | 254.2 (91.7 – 353) | 0.62 |
Selenium (mcg/L) (0-150) | 46.4 (30.6 – 68.5) | 65 (44 – 112) | 0.001 |
Zinc (mcg/dL) (70-120) | 86 (53 – 124) | 77.1 (47.3 – 131) | 0.34 |
FAA | Control | |
Chromium: Low Normal High | 0 17 0 | 0 16 0 |
Cobalt: Low Normal High | 1 16 0 | 0 16 0 |
Copper: Low Normal High | 1 14 2 | 3 11 2 |
Iron: Low Normal High | 0 6 11 | 0 5 11 |
Selenium : Normal High | 17 0 | 16 0 |
Zinc: Low Normal High | 3 13 1 | 6 7 3 |
Conclusion
In our study we found chromium and cobalt levels higher in patients with FAA than control group. In-vitro studies have revealed that FAA cells are more sensitive to chromium toxicity. With larger number of patients chromium level and clinical association should be investigated in further studies. Lower Se level in patients with FAA may be related with oxidative stress in these patients.
Session topic: 12. Bone marrow failure syndromes incl. PNH - Clinical
Keyword(s): Pediatric, Fanconi anemia
Abstract: PB1757
Type: Publication Only
Background
Fanconi aplastic anemia (FAA) is a rare, autosomal recessively inherited bone marrow failure disorder. Various congenital anomalies may accompany disease and various complications including malignancy and endocrinopathies may develop during the course.
Aims
Heavy metal levels in patients with different chronic disorders have been investigated, however, up to our knowledge there is no literature data on the heavy metal levels in patients with FAA.
Methods
Study was performed between July 2015 and April 2016 among patients with FAA and the results were compared with age and gender matched control group. Plasma copper (Cu), iron (Fe), zinc (Zn), and whole blood chromium (Cr), cobalt (Co), selenium (Se) levels were measured in patients with FAA.
Results
Total of 17 patients with FAA were included in the study. Median age was 9 years (1 – 30), female to male ratio was 8/9. One patient had undergone stem cell transplantation, four patients were transfusion dependent. When we compared patients with FAA and age/sex matched healthy group (16 volunteers) Cr and Cu levels were higher and Se level was lower in FAA group significantly (Table 1). However, all patients had chromium level within normal range, two patients with FAA and two volunteers had copper levels higher than the normal ranges (Table 2).
FAA | Control | p | |
Chromium (mcg/L) (2.8-45) | 8.5 (6.3 – 26.2) | 6.5 (4.2 – 13.5) | 0.09 |
Cobalt (mcg/L) (0.5-3.9) | 1.6 (0.09 – 3.2) | 1.6 (1.1 – 3.3) | 0.84 |
Copper (mcg/dL) (70-150) | 111.2 (65.3 – 181.3) | 80.7 (49.5 – 204.9) | 0.01 |
Iron (mcg/dL) (50-150) | 187.2 (119.7 – 391.2) | 254.2 (91.7 – 353) | 0.62 |
Selenium (mcg/L) (0-150) | 46.4 (30.6 – 68.5) | 65 (44 – 112) | 0.001 |
Zinc (mcg/dL) (70-120) | 86 (53 – 124) | 77.1 (47.3 – 131) | 0.34 |
FAA | Control | |
Chromium: Low Normal High | 0 17 0 | 0 16 0 |
Cobalt: Low Normal High | 1 16 0 | 0 16 0 |
Copper: Low Normal High | 1 14 2 | 3 11 2 |
Iron: Low Normal High | 0 6 11 | 0 5 11 |
Selenium : Normal High | 17 0 | 16 0 |
Zinc: Low Normal High | 3 13 1 | 6 7 3 |
Conclusion
In our study we found chromium and cobalt levels higher in patients with FAA than control group. In-vitro studies have revealed that FAA cells are more sensitive to chromium toxicity. With larger number of patients chromium level and clinical association should be investigated in further studies. Lower Se level in patients with FAA may be related with oxidative stress in these patients.
Session topic: 12. Bone marrow failure syndromes incl. PNH - Clinical
Keyword(s): Pediatric, Fanconi anemia