Albertine Donker

X-linked Sideroblastic Anemia in the Netherlands 207 6 RESULTS Overall clinical and biochemical features and treatment strategies of Dutch XLSA patients Fifteen XSLA patients from 11 unrelated families were included in the study; all were of Dutch and Caucasian origin ( Table 1 ). Age at the time of clinical and biochemical diagnosis in our patients ranged from 2 to 72 years. In the male patients, hemoglobin at diagnosis ranged from 3.9 to 7.8 mmol/L with mean corpuscular volume (MCV) between 56 and 71 fL. Serum ferritin at diagnosis ranged from 99 to 5040 µg/L. All patients were treated with high dose pyridoxine (200 mg daily, except for patient 10 who received 150 mg daily), phlebotomies or chelation. Withdrawal of 500 mL blood per phlebotomy was performed, except in patient 2B who started on 200 ml per phlebotomy every 2 weeks for 2 months. Because of a stable and even increasing Hb, the phlebotomy volume was increased to 400 mL every 2 weeks until his ferritin became < 100 µg/L ( Figure 1 ). Also, in the other patients phlebotomies were well tolerated, even in a patient with more severe anemia (patient 3). In general, this treatment regimen resulted in a significant increase of Hb in six out of 15 patient and a decrease of ferritin levels in five out of 15 patients. The only female proband, patient 1A, died at the age of 79 years due to the complications of diabetes mellitus and heart failure. Patient 2A died at the age of 71 years from a hepatocellular carcinoma (HCC). The other patients are still alive and in good clinical condition. None of them has developed severe complications of systemic iron overload, probably due to timely treatment.